P29 Behrs syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene (English)
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In:
NEUROMUSCULAR DISORDERS
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24
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S14
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2014
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ISSN:
- Article (Journal) / Print
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Title:P29 Behrs syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene
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Contributors:Pyle, A. ( author ) / Venkateswaran, R. ( author ) / Bartsakoulia, M. ( author ) / Boczonadi, V. ( author ) / Herczegfalvi, A. ( author ) / Karcagi, V. ( author ) / Lochmüller, H. ( author ) / Taylor, R. ( author ) / Chinnery, P. F. ( author ) / Horvath, R. ( author )
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Published in:NEUROMUSCULAR DISORDERS ; 24 ; S14
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- New search for: Elsevier Science B.V., Amsterdam.
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Publication date:2014-01-01
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Size:S14
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
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Table of contents – Volume 24
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 1
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Commentary from the EditorDubowitz, V. et al. | 2014
- 4
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Statin myotoxicity: A review of genetic susceptibility factorsNeedham, M. / Mastaglia, F. L. et al. | 2014
- 16
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Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trialFlanigan, K. M. / Voit, T. / Rosales, X. Q. / Servais, L. / Kraus, J. E. / Wardell, C. / Morgan, A. / Dorricott, S. / Nakielny, J. / Quarcoo, N. et al. | 2014
- 25
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Outcome of children with acetylcholine receptor (AChR) antibody positive juvenile myasthenia gravis following thymectomyHeng, H. S. / Lim, M. / Absoud, M. / Austin, C. / Clarke, D. / Wraige, E. / Reid, C. / Robb, S. A. / Jungbluth, H. et al. | 2014
- 31
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Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSKGallenmüller, C. / Felber, W. M. / Dusl, M. / Stucka, R. / Guergueltcheva, V. / Blaschek, A. / von der Hagen, M. / Huebner, A. / Müller, J. S. / Lochmüller, H. et al. | 2014
- 36
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Prepubertal anti-Musk positive myasthenia gravis with long remissionGungor-Tuncer, O. / Orhan, E. K. / Yilmaz, V. / Parman, Y. / Oflazer, P. / Saruhan-Direskeneli, G. / Deymeer, F. et al. | 2014
- 40
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Myasthenia gravis and thymoma coexisting with myotonic dystrophy type 1Ekmekci, O. / Karasoy, H. / Bademkiran, F. / Akkus, D. E. / Yuceyar, N. et al. | 2014
- 43
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Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skippingJoshi, P. R. / Gläser, D. / Dreßel, C. / Kress, W. / Weis, J. / Deschauer, M. et al. | 2014
- 48
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The absence of curly hair is associated with a milder phenotype in Giant Axonal NeuropathyRoth, L. A. / Johnson-Kerner, B. L. / Marra, J. D. / LaMarca, N. H. / Sproule, D. M. et al. | 2014
- 56
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Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutationYurrebaso, I. / Casado, O. L. / Barcena, J. / Perez de Nanclares, G. / Aguirre, U. et al. | 2014
- 63
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Respiratory dysfunction in unsedated dogs with golden retriever muscular dystrophyDeVanna, J. C. / Kornegay, J. N. / Bogan, D. J. / Bogan, J. R. / Dow, J. L. / Hawkins, E. C. et al. | 2014
- 74
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The Meryon Society Lecture at the 38th Oxford Muscle Symposium, June 28th 2013: The story of the distal myopathiesUdd, B. et al. | 2014
- 77
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Histological abnormalities induced by the electromyography needleVoermans, N. C. / Sie, L. T. / van Alfen, N. / van Engelen, B. G. / Küsters, B. et al. | 2014
- 79
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Clinical trial preparedness in facioscapulohumeral dystrophy: Outcome measures and patient access:8–9 April 2013, Leiden, The NetherlandsTawil, R. / Shaw, D. W. / van der Maarel, S. M. / Tapscott, S. J. et al. | 2014
- 86
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Book reviewWills, A. et al. | 2014
- 88
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Compound heterozygous mutations of the TNXB gene cause primary myopathyVoermans, N. C. / Gerrits, K. / van Engelen, B. G. / de Haan, A. et al. | 2014
- 90
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WMS 18 Asilomar, California Pacific Paradise for Education, Enjoyment and ExcitementMiller, J. et al. | 2014
- 97
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Approach to the diagnosis of congenital myopathiesNorth, K. N. / Wang, C. H. / Clarke, N. / Jungbluth, H. / Vainzof, M. / Dowling, J. J. / Amburgey, K. / Quijano-Roy, S. / Beggs, A. H. / Sewry, C. et al. | 2014
- 117
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Novel TPM3 mutation in a family with cap myopathy and review of the literatureSchreckenbach, T. / Schröder, J. M. / Voit, T. / Abicht, A. / Neuen-Jacob, E. / Roos, A. / Bulst, S. / Kuhl, C. / Schulz, J. B. / Weis, J. et al. | 2014
- 125
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Diaphragmatic dysfunction in Collagen VI myopathiesQuijano-Roy, S. / Khirani, S. / Colella, M. / Ramirez, A. / Aloui, S. / Wehbi, S. / de Becdelievre, A. / Carlier, R. Y. / Allamand, V. / Richard, P. et al. | 2014
- 134
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Somatropin treatment of spinal muscular atrophy: A placebo-controlled, double-blind crossover pilot studyKirschner, J. / Schorling, D. / Hauschke, D. / Rensing-Zimmermann, C. / Wein, U. / Grieben, U. / Schottmann, G. / Schara, U. / Konrad, K. / Müller-Felber, W. et al. | 2014
- 143
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Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α–ε subunit interfaceWebster, R. / Liu, W. W. / Chaouch, A. / Lochmüller, H. / Beeson, D. et al. | 2014
- 148
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Muscle-specific kinase antibody associated myasthenia gravis after bone marrow transplantationHeidarzadeh, Z. / Mousavi, S. A. / Ostovan, V. R. / Nafissi, S. et al. | 2014
- 151
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Inflammatory myopathy with abundant macrophages (IMAM): The immunology revisitedRinnenthal, J. L. / Goebel, H. H. / Preuße, C. / Lebenheim, L. / Schumann, M. / Moos, V. / Schneider, T. / Heppner, F. L. / Stenzel, W. et al. | 2014
- 156
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Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathyKomlósi, K. / Hadzsiev, K. / Garbes, L. / Martínez Carrera, L. A. / Pál, E. / Sigurðsson, J. h. / Magnusson, O. / Melegh, B. l. / Wirth, B. et al. | 2014
- 162
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A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathyJeppesen, T. D. / Duno, M. / Risom, L. / Wibrand, F. / Rafiq, J. / Krag, T. / Jakobsen, J. / Andersen, H. / Vissing, J. et al. | 2014
- 167
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Phosphorylase re-expression, increase in the force of contraction and decreased fatigue following notexin-induced muscle damage and regeneration in the ovine model of McArdle diseaseHowell, J. M. / Walker, K. R. / Creed, K. E. / Dunton, E. / Davies, L. / Quinlivan, R. / Karpati, G. et al. | 2014
- 178
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Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophyFan, Z. / Wang, J. / Ahn, M. / Shiloh-Malawsky, Y. / Chahin, N. / Elmore, S. / Bagnell, C. R. / Wilber, K. / An, H. / Lin, W. et al. | 2014
- 195
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Monoclonal antibodies for clinical trials of Duchenne muscular dystrophy therapyLam, L. T. / Man, N. T. / Morris, G. E. et al. | 2014
- 201
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Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophyPane, M. / Mazzone, E. S. / Fanelli, L. / De Sanctis, R. / Bianco, F. / Sivo, S. / D’Amico, A. / Messina, S. / Battini, R. / Scutifero, M. et al. | 2014
- 207
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Factors of importance for dynamic balance impairment and frequency of falls in individuals with myotonic dystrophy type 1 – A cross-sectional study – Including reference values of Timed Up & Go, 10m walk and step testHammarén, E. / Kjellby-Wendt, G. / Kowalski, J. / Lindberg, C. et al. | 2014
- 216
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Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophyKempen, J. C. / Harlaar, J. / van der Kooi, A. J. / de Groot, I. J. / van den Bergen, J. C. / Niks, E. H. / Verschuuren, J. J. / Brehm, M. A. et al. | 2014
- 222
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The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositisAlfano, L. N. / Lowes, L. P. / Dvorchik, I. / Yin, H. / Maus, E. G. / Flanigan, K. M. / Mendell, J. R. et al. | 2014
- 227
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Most expression and splicing changes in myotonic dystrophy type 1 and type 2 skeletal muscle are shared with other muscular dystrophiesBachinski, L. L. / Baggerly, K. A. / Neubauer, V. L. / Nixon, T. J. / Raheem, O. / Sirito, M. / Unruh, A. K. / Zhang, J. / Nagarajan, L. / Timchenko, L. T. et al. | 2014
- 241
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A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failurePfeffer, G. / Sambuughin, N. / Olivé, M. / Tyndel, F. / Toro, C. / Goldfarb, L. G. / Chinnery, P. F. et al. | 2014
- 245
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Excessive risk of cancer and in particular lymphoid malignancy in myasthenia gravis patients: A population-based cohort studyYeh, J. H. / Lin, C. C. / Chen, Y. K. / Sung, F. C. / Chiu, H. C. / Kao, C. H. et al. | 2014
- 250
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Adenovirus-mediated expression of myogenic differentiation factor 1 (MyoD) in equine and human dermal fibroblasts enables their conversion to caffeine-sensitive myotubesFernandez-Fuente, M. / Martin-Duque, P. / Vassaux, G. / Brown, S. C. / Muntoni, F. / Terracciano, C. M. / Piercy, R. J. et al. | 2014
- 259
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Late-onset spinal motor neuronopathy – A common form of dominant SMAPenttilä, S. / Jokela, M. / Huovinen, S. / Saukkonen, A. M. / Toivanen, J. / Lindberg, C. / Baumann, P. / Udd, B. et al. | 2014
- 269
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Early infantile sensory-motor neuropathy with late onset respiratory distressBlaschek, A. / Gläser, D. / Kuhn, M. / Schroeder, A. S. / Wimmer, C. / Heimkes, B. / Schön, C. / Müller-Felber, W. et al. | 2014
- 272
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Adult polyglucosan body disease in a patient originally diagnosed with Fabry’s diseaseSagnelli, A. / Savoiardo, M. / Marchesi, C. / Morandi, L. / Mora, M. / Morbin, M. / Farina, L. / Mazzeo, A. / Toscano, A. / Pagliarani, S. et al. | 2014
- 277
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6th Dysferlin Conference, 3–6 April 2013, Arlington, Virginia, USAAlbrecht, D. E. / Rufibach, L. E. / Williams, B. A. / Lee, E. R. / Windish, H. P. / Hwang, E. Y. / Shira, S. R. / Mittal, P. et al. | 2014
- 289
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Diagnostic approach to the congenital muscular dystrophiesBönnemann, C. G. / Wang, C. H. / Quijano-Roy, S. / Deconinck, N. / Bertini, E. / Ferreiro, A. / Muntoni, F. / Sewry, C. / Béroud, C. / Mathews, K. D. et al. | 2014
- 312
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A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutationsWallace, S. E. / Conta, J. H. / Winder, T. L. / Willer, T. / Eskuri, J. M. / Haas, R. / Patterson, K. / Campbell, K. P. / Moore, S. A. / Gospe, S. M. et al. | 2014
- 321
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Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutationsHafner, P. / Bonati, U. / Fischmann, A. / Schneider, J. / Frank, S. / Morris-Rosendahl, D. J. / Dumea, A. / Heinimann, K. / Fischer, D. et al. | 2014
- 325
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Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathyCitirak, G. l. / Witting, N. / Duno, M. / Werlauff, U. / Petri, H. / Vissing, J. et al. | 2014
- 331
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Novel large deletion in the ACTA1 gene in a child with autosomal recessive nemaline myopathyFriedman, B. / Simpson, K. / Tesi-Rocha, C. / Zhou, D. / Palmer, C. A. / Suchy, S. F. et al. | 2014
- 335
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Myopathy with anti-signal recognition particle antibodies: Clinical and histopathological features in Chinese patientsWang, L. / Liu, L. / Hao, H. / Gao, F. / Liu, X. / Wang, Z. / Zhang, W. / Lv, H. / Yuan, Y. et al. | 2014
- 342
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Influenzavirus B-associated acute benign myalgia cruris: An outbreak report and review of the literatureFerrarini, A. / Lava, S. A. / Simonetti, G. D. / Ramelli, G. P. / Bianchetti, M. G. et al. | 2014
- 347
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Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patientsMazzone, E. / De Sanctis, R. / Fanelli, L. / Bianco, F. / Main, M. / van den Hauwe, M. / Ash, M. / de Vries, R. / Fagoaga Mata, J. / Schaefer, K. et al. | 2014
- 353
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Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndromeMonies, D. M. / Al-Hindi, H. N. / Al-Muhaizea, M. A. / Jaroudi, D. J. / Al-Younes, B. / Naim, E. A. / Wakil, S. M. / Meyer, B. F. / Bohlega, S. et al. | 2014
- 360
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Novel mitofusin 2 splice-site mutation causes Charcot–Marie–Tooth disease type 2 with prominent sensory dysfunctionMartikainen, M. H. / Kytövuori, L. / Majamaa, K. et al. | 2014
- 365
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Asymptomatic myotonia congenita unmasked by severe hypothyroidismPasseri, E. / Sansone, V. A. / Verdelli, C. / Mendola, M. / Corbetta, S. et al. | 2014
- 371
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Corrigendum to ‘Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome’ [Neuromuscul Disord 23 (2013) 998–1009]Bauché, S. p. / Boerio, D. / Davoine, C. S. / Bernard, V. r. / Stum, M. / Bureau, C. c. / Fardeau, M. / Romero, N. B. / Fontaine, B. / Koenig, J. et al. | 2014
- 373
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Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin III 119 subdomainHedberg, C. / Toledo, A. G. / Gustafsson, C. M. / Larson, G. r. / Oldfors, A. / Macao, B. et al. | 2014
- 380
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GNE myopathy: A prospective natural history study of disease progressionMori-Yoshimura, M. / Oya, Y. / Yajima, H. / Yonemoto, N. / Kobayashi, Y. / Hayashi, Y. K. / Noguchi, S. / Nishino, I. / Murata, M. et al. | 2014
- 387
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GNE myopathy: New name and new mutation nomenclatureHuizing, M. / Carrillo-Carrasco, N. / Malicdan, M. C. / Noguchi, S. / Gahl, W. A. / Mitrani-Rosenbaum, S. / Argov, Z. / Nishino, I. et al. | 2014
- 390
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Global T2 versus water T2 in NMR imaging of fatty infiltrated muscles: Different methodology, different information and different implicationsCarlier, P. G. et al. | 2014
- 393
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Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: Effects of age and disease progressionWillcocks, R. J. / Arpan, I. A. / Forbes, S. C. / Lott, D. J. / Senesac, C. R. / Senesac, E. / Deol, J. / Triplett, W. T. / Baligand, C. / Daniels, M. J. et al. | 2014
- 402
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Utility of real-time three-dimensional echocardiography for Duchenne muscular dystrophy with echocardiographic limitationsTsuburaya, R. S. / Uchizumi, H. / Ueda, M. / Demura, Y. / Mukaida, S. / Sudou, S. / Irahara, K. / Sakai, N. / Shiraishi, K. et al. | 2014
- 409
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Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophyWokke, B. H. / van den Bergen, J. C. / Versluis, M. J. / Niks, E. H. / Milles, J. / Webb, A. G. / van Zwet, E. W. / Aartsma-Rus, A. / Verschuuren, J. J. / Kan, H. E. et al. | 2014
- 417
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A 19-year-old ambulant Duchenne patient with stunted growth on long-term corticosteroidsMerlini, L. et al. | 2014
- 419
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Atypical phenotype in two patients with LAMA2 mutationsMarques, J. / Duarte, S. T. / Costa, S. n. / Jacinto, S. / Oliveira, J. / Oliveira, M. r. / Santos, R. r. / Bronze-da-Rocha, E. / Silvestre, A. R. / Calado, E. l. et al. | 2014
- 425
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Localized scleroderma and regional inflammatory myopathyŽivković, S. a. / Freiberg, W. / Lacomis, D. / Domsic, R. T. / Medsger, T. A. et al. | 2014
- 431
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Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophyCouthouis, J. / Raphael, A. R. / Siskind, C. / Findlay, A. R. / Buenrostro, J. D. / Greenleaf, W. J. / Vogel, H. / Day, J. W. / Flanigan, K. M. / Gitler, A. D. et al. | 2014
- 436
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Deletion of atrophy enhancing genes fails to ameliorate the phenotype in a mouse model of spinal muscular atrophyIyer, C. C. / McGovern, V. L. / Wise, D. O. / Glass, D. J. / Burghes, A. H. et al. | 2014
- 445
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Consensus on cerebral involvement in myotonic dystrophy:Workshop report: May 24–27, 2013, Ferrere (AT), ItalyBugiardini, E. / Meola, G. et al. | 2014
- 453
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199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The NetherlandsBertrand, A. T. / Bönnemann, C. G. / Bonne, G. l. et al. | 2014
- 463
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Dystrophin as a therapeutic biomarker: Are we ignoring data from the past?Wilton, S. D. / Fletcher, S. / Flanigan, K. M. et al. | 2014
- 467
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Influence of a two-year steroid treatment on body composition as measured by dual X-ray absorptiometry in boys with Duchenne muscular dystrophyVuillerot, C. / Braillon, P. / Fontaine-Carbonnel, S. / Rippert, P. / André, E. / Iwaz, J. / Poirot, I. / Bérard, C. et al. | 2014
- 474
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Tongue pressure during swallowing is decreased in patients with Duchenne muscular dystrophyHamanaka-Kondoh, S. / Kondoh, J. / Tamine, K. i. / Hori, K. / Fujiwara, S. / Maeda, Y. / Matsumura, T. / Yasui, K. / Fujimura, H. / Sakoda, S. et al. | 2014
- 482
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A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophyMah, J. K. / Korngut, L. / Dykeman, J. / Day, L. / Pringsheim, T. / Jette, N. et al. | 2014
- 492
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Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophyBerthelsen, M. P. / Husu, E. / Christensen, S. B. / Prahm, K. P. / Vissing, J. / Jensen, B. R. et al. | 2014
- 499
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The effects of prednisone and steroid-sparing agents on decay accelerating factor (CD55) expression: Implications in myasthenia gravisAuret, J. / Abrahams, A. / Prince, S. / Heckmann, J. M. et al. | 2014
- 509
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Plasma microRNAs as biomarkers for myotonic dystrophy type 1Perfetti, A. / Greco, S. / Bugiardini, E. / Cardani, R. / Gaia, P. / Gaetano, C. / Meola, G. / Martelli, F. et al. | 2014
- 516
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The role of the prefrontal cortex in the development of muscle fatigue in Charcot–Marie–Tooth 1A patientsMenotti, F. / Berchicci, M. / Di Russo, F. / Damiani, A. / Vitelli, S. / Macaluso, A. et al. | 2014
- 524
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Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A diseaseMathis, S. p. / Corcia, P. / Tazir, M. / Camu, W. / Magdelaine, C. / Latour, P. / Biberon, J. / Guennoc, A. M. / Richard, L. / Magy, L. et al. | 2014
- 529
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Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA geneBonati, U. / Bechtel, N. / Heinimann, K. / Rutz, E. / Schneider, J. / Frank, S. / Weber, P. / Fischer, D. et al. | 2014
- 533
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Distal weakness with respiratory insufficiency caused by the m.8344A>G “MERRF” mutationBlakely, E. L. / Alston, C. L. / Lecky, B. / Chakrabarti, B. / Falkous, G. / Turnbull, D. M. / Taylor, R. W. / Gorman, G. S. et al. | 2014
- 537
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200th ENMC International Workshop “European Reference Networks: Recommendations and Criteria in the Neuromuscular field”, 18–20 October 2013, Naarden, the NetherlandsEvangelista, T. / van Engelen, B. / Bushby, K. et al. | 2014
- 546
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201st ENMC International Workshop: Autophagy in muscular dystrophies – Translational approach, 1–3 November 2013, Bussum, The NetherlandsMerlini, L. / Nishino, I. et al. | 2014
- 563
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Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophyRouillon, J. / Zocevic, A. / Leger, T. / Garcia, C. / Camadro, J. M. / Udd, B. / Wong, B. / Servais, L. / Voit, T. / Svinartchouk, F. et al. | 2014
- 574
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Assessment of intramuscular lipid and metabolites of the lower leg using magnetic resonance spectroscopy in boys with Duchenne muscular dystrophyLott, D. J. / Forbes, S. C. / Mathur, S. / Germain, S. A. / Senesac, C. R. / Lee Sweeney, H. / Walter, G. A. / Vandenborne, K. et al. | 2014
- 583
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Long-term administration of the TNF blocking drug Remicade (cV1q) to mdx mice reduces skeletal and cardiac muscle fibrosis, but negatively impacts cardiac functionErmolova, N. V. / Martinez, L. / Vetrone, S. A. / Jordan, M. C. / Roos, K. P. / Sweeney, H. L. / Spencer, M. J. et al. | 2014
- 596
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A novel quantitative morphometry approach to assess regeneration in dystrophic skeletal muscleButtgereit, A. / Weber, C. / Friedrich, O. et al. | 2014
- 604
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Four-year longitudinal study of clinical and functional endpoints in sporadic inclusion body myositis: Implications for therapeutic trialsHogrel, J. Y. / Allenbach, Y. / Canal, A. l. / Leroux, G. l. / Ollivier, G. / Mariampillai, K. / Servais, L. / Herson, S. / Decostre, V. r. / Benveniste, O. et al. | 2014
- 611
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Abnormal distribution of heterogeneous nuclear ribonucleoproteins in sporadic inclusion body myositisPinkus, J. L. / Amato, A. A. / Taylor, J. P. / Greenberg, S. A. et al. | 2014
- 617
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Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patientsJędrzejowska, M. / Gos, M. / Zimowski, J. G. / Kostera-Pruszczyk, A. / Ryniewicz, B. / Hausmanowa-Petrusewicz, I. et al. | 2014
- 624
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Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathiesKayman-Kurekci, G. / Talim, B. / Korkusuz, P. / Sayar, N. / Sarioglu, T. / Oncel, I. / Sharafi, P. / Gundesli, H. / Balci-Hayta, B. / Purali, N. et al. | 2014
- 634
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A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature reviewKaneko, K. / Kuroda, H. / Izumi, R. / Tateyama, M. / Kato, M. / Sugimura, K. / Sakata, Y. / Ikeda, Y. / Hirano, K. i. / Aoki, M. et al. | 2014
- 642
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Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathyMiyatake, S. / Koshimizu, E. / Hayashi, Y. K. / Miya, K. / Shiina, M. / Nakashima, M. / Tsurusaki, Y. / Miyake, N. / Saitsu, H. / Ogata, K. et al. | 2014
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Atrio-ventricular block requiring pacemaker in patients with late onset Pompe diseaseSacconi, S. / Wahbi, K. / Theodore, G. / Garcia, J. r. / Salviati, L. / Bouhour, F. o. / Vial, C. / Duboc, D. / Laforêt, P. / Desnuelle, C. et al. | 2014
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Rhabdomyolysis: Review of the literatureZutt, R. / van der Kooi, A. J. / Linthorst, G. E. / Wanders, R. J. / de Visser, M. et al. | 2014
- 660
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A novel locus for a hereditary recurrent neuropathy on chromosome 21q21Calpena, E. / Martínez-Rubio, D. / Arpa, J. / García-Peñas, J. J. / Montaner, D. / Dopazo, J. / Palau, F. / Espinós, C. et al. | 2014
- 666
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Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth diseaseMenezes, M. P. / Waddell, L. / Lenk, G. M. / Kaur, S. / MacArthur, D. G. / Meisler, M. H. / Clarke, N. F. et al. | 2014
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Characteristics of muscle cramps in patients with polyneuropathyMaxwell, S. K. / Kokokyi, S. / Breiner, A. / Ebadi, H. / Bril, V. / Katzberg, H. D. et al. | 2014
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Limb girdle muscular dystrophy due to LAMA2 mutations: Diagnostic difficulties due to associated peripheral neuropathyChan, S. H. / Foley, A. R. / Phadke, R. / Mathew, A. A. / Pitt, M. / Sewry, C. / Muntoni, F. et al. | 2014
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Predictive factors for masticatory performance in Duchenne muscular dystrophyvan Bruggen, H. W. / van de Engel-Hoek, L. / Steenks, M. H. / Bronkhorst, E. M. / Creugers, N. H. / de Groot, I. J. / Kalaykova, S. I. et al. | 2014
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Conserved regions of the DMD 3′ UTR regulate translation and mRNA abundance in cultured myotubesLarsen, C. A. / Howard, M. T. et al. | 2014
- 707
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RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimineIllingworth, M. A. / Main, M. / Pitt, M. / Feng, L. / Sewry, C. A. / Gunny, R. / Vorstman, E. / Beeson, D. / Manzur, A. / Muntoni, F. et al. | 2014
- 713
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Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutationsRoos, S. / Lindgren, U. / Ehrstedt, C. / Moslemi, A. R. / Oldfors, A. et al. | 2014
- 721
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Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipationFinsterer, J. / Brandau, O. / Stöllberger, C. / Wallefeld, W. / Laing, N. G. / Laccone, F. et al. | 2014
- 726
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The decreased expression of thioredoxin-1 in brain of mice with experimental autoimmune myasthenia gravisChen, W. / Zeng, X. / Luo, F. / Lv, T. / Zhou, X. / Bai, J. et al. | 2014
- 736
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197th ENMC international workshop: Neuromuscular disorders of mitochondrial fusion and fission – OPA1 and MFN2 molecular mechanisms and therapeutic strategies:26–28 April 2013, Naarden, The NetherlandsYu-Wai-Man, P. / Carelli, V. / Chinnery, P. F. et al. | 2014
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Biomarkers and surrogate endpoints in Duchenne: Meeting reportAartsma-Rus, A. / Ferlini, A. / Vroom, E. et al. | 2014
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Title| 2014
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Welcome to the World Muscle Society Congress in Berlin, Germany!| 2014
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19th WMS Congress - 2014 - Program (Summary)| 2014
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19th WMS Congress - 2014 - Program| 2014
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A.I.3:Role of autophagy in protein aggregate and vacuolar myopathiesWeihl, c. u. et al. | 2014
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A.I.4:Protein aggregate myopathies: The many faces of an expanding disease groupSchröder, c. u. et al. | 2014
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A.I.1:Basics of autophagy in muscle – Cellular mechanismsSandri, c. u. et al. | 2014
- 791
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A.I.2:The transcriptional control of autophagy in health and diseaseBallabio, c. u. et al. | 2014
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G.O.2:Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscleKreissl, M. / Sandaradura, S. A. / Dowling, J. J. / Kostyukova, A. S. / Moroz, N. / Quinlan, K. G. / Lehtokari, V. / Ravenscroft, G. / Todd, E. J. / Ceyhan-Birsoy, O. et al. | 2014
- 792
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G.O.1:Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channelsEndo, c. u. / Noguchi, S. / Hara, Y. / Hayashi, Y. K. / Motomura, K. / Murakami, N. / Tanaka, S. / Yamashita, S. / Kizu, R. / Bamba, M. et al. | 2014
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G.O.3:Severe congenital actin related myofibrillar myopathySelcen, c. u. et al. | 2014
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G.O.5:Mitochondrial dysfunction reveals defective poly(A) tail regulation of specific mRNAs as a primary defect in oculopharyngeal muscular dystrophyTrollet, c. u. / Chartier, A. / Klein, P. / Barbezier, N. / Gidaro, T. / Casas, F. / Carberry, S. / Dowling, P. / Maynadier, L. / Dickson, G. et al. | 2014
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G.O.4:The SMCHD1 mutation spectrum in FSHD2: Novel insight in clinical variability in FSHDvan den Boogaard, c. u. / Lemmers, R. J. / Camano, P. / van der Vliet, P. J. / Balog, J. / Voermans, N. / Tapscott, S. J. / de Munain, A. L. / Tawil, R. / Bakker, B. et al. | 2014
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G.O.6:Lethal disorder of mitochondrial fission caused by mutations in DNM1LYoon, c. u. / Malam, Z. / Paton, T. / Marshall, C. / Hyatt, E. / Ivakine, Z. / Kemaladewi, D. / Forge, C. / Lee, K. S. / Hawkins, C. et al. | 2014
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G.P.1:Refinement of diagnosis of Becker muscular dystrophy: Results of re-analysis of DNA samplesStraathof, c. u. / van Heusden, D. / Ippel, P. F. / Post, J. G. / Voermans, N. C. / de Visser, M. / Brusse, E. / van den Bergen, J. C. / van der Kooi, A. J. / Verschuuren, J. J. et al. | 2014
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G.P.2:Clinical profile of pediatric patients with Becker Muscular Dystrophy (BMD)Shellenbarger, c. u. / Rybalsky, I. / Bange, J. / Wong, B. L. et al. | 2014
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G.P.3:Development of a disease severity scale for Becker muscular dystrophyvan den Bergen, c. u. / Wokke, B. H. / van Damme, P. / van der Kooi, A. J. / De Bleecker, J. / De Jonghe, P. / Verschuuren, J. J. et al. | 2014
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G.P.5:Clinical profile of a 6-year old boy with Becker Muscular Dystrophy and asymptomatic rhabdomyolysis: A case reportUpadhyayula, S. / Shellenbarger, c. u. / Wong, B. L. et al. | 2014
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G.P.4:BMD patients show relative sparing of hip flexion on muscle testing and MRIWokke, c. u. / van den Bergen, J. C. / Reijnierse, M. / Rijswijk, C. S. / Kan, H. E. / Verschuuren, J. J. et al. | 2014
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G.P.9:Adult onset distal and proximal myopathy with complete ophthalmoplegia and bulbar involvement due to de novo mutation in MYH2Cabrera, c. u. / Junckerstorff, R. / Lamont, P. J. / Laing, N. G. et al. | 2014
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G.P.8:Dramatic improvement after injection augmentation in oculopharyngodistal myopathyOzcan, O. / Durmus, H. / Tarhan, O. / Polat, Z. / Deymeer, F. / Parman, Y. / Oflazer-Serdaroglu, c. u. et al. | 2014
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G.P.6:Oculopharyngeal Muscular Dystrophy with PABPN1 mutation in two Chinese Singaporean familiesChai, c. u. et al. | 2014
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G.P.7:Longitudinal studies of dysphagia in oculopharyngeal muscular dystrophiesArahata, c. u. / Sakai, M. / Umemoto, G. et al. | 2014
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G.P.11:SMCHD1 mutations cause FSHD type 2 and act as modifiers of disease severityLarsen, c. u. / Kress, W. / Rost, S. / Hajj, N. E. / Müller, C. R. et al. | 2014
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G.P.12:Molecular defects in FAT1 are associated to facioscapulohumeral dystrophy (FSHD)Puppo, c. u. / Dionnet, E. / Gaildrat, P. / Castro, C. / Bernard, R. / Salort-Campana, E. / Shahram, A. / Nishino, I. / Krahn, M. / Helmbacher, F. et al. | 2014
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G.P.10:The DUX4 promoter mouse: The next generationWallace, c. u. / Liu, J. / Garwick-Coppens, S. E. / Guckes, S. M. / Smith, C. / McBride, J. / Harper, S. Q. et al. | 2014
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G.P.15:Aerobic exercise and cognitive behavior therapy reduce fatigue and slow progression of muscle MR fatty infiltration in FSHDvan Engelen, c. u. / Voet, N. / Janssen, B. / Bleijenberg, G. / Hendriks, J. / de Groot, I. / Padberg, G. / Heerschap, A. / Geurts, A. et al. | 2014
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G.P.13:Baseline characteristics of the CINRG infantile facioscapulohumeral muscular dystrophy (FSHD) cohortMah, c. u. / Chen, Y. W. / Duong, T. / Cnaan, A. / Sund, Z. / Morgenroth, L. P. / McDonald, C. / Tulinius, M. / Sparks, S. / Webster, R. et al. | 2014
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G.P.14:From muscular architecture to function: The involvement of FAT1 protocadherin in FSHDPuppo, c. u. / Sebbagh, M. / Helmbacher, F. / Levy, N. / Krahn, M. / Bartoli, M. et al. | 2014
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G.P.16:MR-guided muscle biopsy: A novel technique for the collection of muscle biopsiesLassche, c. u. / Janssen, B. H. / Voermans, N. C. / Futterer, J. J. / van Engelen, B. G. et al. | 2014
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G.P.17:TTN a challenge for next generation sequencingHackman, c. u. / Evilä, A. / Udd, B. et al. | 2014
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G.P.18:Neurogenetic disease diagnostics by targeted capture and next generation sequencingYau, K. / Allcock, R. / Mina, K. / Ravenscroft, G. / Cabrera, M. / Gooding, R. / Wise, C. / Sivadorai, P. / Trajanoski, D. / Atkinson, V. et al. | 2014
- 800
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G.P.19:Global gene expression profile in different forms of murine muscular dystrophiesAlmeida, c. u. / Martins, P. C. / Onofre-Oliveira, P. C. / Vainzof, M. et al. | 2014
- 800
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G.P.21:Whole exome sequencing as a diagnostic tool in neuromuscular disordersPenttilä, c. u. / Udd, B. et al. | 2014
- 800
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G.P.20:A targeted next-generation sequencing panel for diagnostic use in primary myopathiesEvila, c. u. / Udd, B. / Hackman, P. et al. | 2014
- 801
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G.P.23:Diagnostic application of targeted NGS in early onset myopathiesCho, c. u. / Vasta, V. / Lim, B. C. / Lee, J. S. / Eun, S. H. / Kim, K. J. / Hwang, Y. S. / Hahn, S. / Chae, J. H. et al. | 2014
- 801
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G.P.22:Utilising next-generation sequencing to determine the genetic basis of recurrent rhabdomyolysisScalco, c. u. / Pitceathly, R. D. / Gardiner, A. / Woodward, C. / Polke, J. M. / Sweeney, M. G. / Olpin, S. E. / Kirk, R. / Murphy, E. / Hilton-Jones, D. et al. | 2014
- 801
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G.P.24:Cardiomyopathy in childhood: Results from a single tertiary care centerBatu, E. / Pehlivanturk, M. / Haliloglu, c. u. / Utine, E. / Tekerek, N. U. / Eroglu, F. K. / Ertugrul, I. / Hizal, G. / Boduroglu, K. / Topaloglu, H. et al. | 2014
- 802
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G.P.25:Low prevalence of skeletal muscle involvement in patients suffering from idiopathic cardiomyopathyMera, c. u. / Salazar, J. / Roca, J. / Quereda, L. G. / Gallano, P. / Martínez, F. / Costelo, J. G. / Olive, M. et al. | 2014
- 802
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G.P.27:Latest updates to the MDA monoclonal antibody resource for neuromuscular disordersLe, L. T. / Nguyen, T. M. / Sewry, C. A. / Morris, c. u. et al. | 2014
- 802
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G.P.28:Through myotubes normalization, CYTOO 2D+ increase sensitivity of muscle damage HCS assayMargaron, c. u. / Fernandes, M. / Morales, D. / Degot, S. et al. | 2014
- 802
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G.P.26:Vitamin D deficiency myopathy in Egypt: A treatable myopathyFahmy, c. u. / Fayez, D. et al. | 2014
- 803
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G.P.31:Voluntary running wheel activity and body weight analyses in diverse mouse strains: A platform for identifying modifying genes for neuromuscular diseasesMessineo, A. M. / Ma, J. / Boutilier, J. / McNamara, E. L. / Ong, R. / Wallace, A. / Manship, G. / Ram, R. / Mehta, M. / Laing, N. G. et al. | 2014
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G.P.29:Implementing robustness of preclinical efficacy studies: Need for a concerted effortWillmann, c. u. et al. | 2014
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G.P.30:Total energy expenditure estimation can be improved by adjustments for body composition, mechanical ventilation and consciousness disturbance in patients with neuromuscular disordersMatsumura, c. u. / Saito, T. / Fujimura, H. / Sakoda, S. et al. | 2014
- 804
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G.P.33 :Molecular analysis of a Brazilian cohort of myotubular and centronuclear myopathy patientsAbath Neto, O. / Martins, C. A. / Reed, U. C. / Biancalana, V. / Bönnemann, C. / Laporte, J. / Zanoteli, c. u. et al. | 2014
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G.P.32:Enhancement of myosin heavy chain class I (MyHC I) mRNA expression in C2C12 myocyte by chlorogenic acidYamaji, c. u. / Mori, Y. / Hiroshima, R. / Watanabe, M. / Miyazaki, A. et al. | 2014
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G.P.34:The expanding spectrum of congenital titinopathiesChauveau, C. / Bönnemann, C. G. / Julien, C. / Kho, A. L. / Marks, H. / Talim, B. / Maury, P. / Uro-Coste, E. / Alexandrovich, A. / Vihola, A. et al. | 2014
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G.P.35:Analysis of a large patient cohort with recessive truncating TTN mutations reveals novel clinical features and a diverse range of muscle pathologiesOates, c. u. / Yau, K. S. / Charlton, A. / Brammah, S. / Farrar, M. A. / Sampaio, H. / Lamont, P. L. / Mowat, D. / Fitzsimons, R. B. / Corbett, A. et al. | 2014
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G.P.37:Clinical overlap between centronuclear myopathy and axonal neuropathy (CMT2) due to mutation in DNM2 geneHaberlova, c. u. / Safka-Brozkova, D. / Gonzales, M. / Zuchner, S. / Seeman, P. et al. | 2014
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G.P.36:Disease specific expression patterns of skeletal muscle foetal myosin heavy chain isoform (nMHC) in congenital myopathiesRivas, c. u. / Phadke, R. / Ellis, M. / Chambers, D. / Feng, L. / Sewry, C. et al. | 2014
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G.P.40:Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatoryShichiji, c. u. / Ishigaki, K. / Murakami, T. / Sato, T. / Kajino, S. / Osawa, M. / Nagata, S. / Saito, K. et al. | 2014
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G.P.39:An international prospective, longitudinal study of the natural history and functional status of patients with myotubular myopathyAnnoussamy, c. u. / Landy, H. / Ramsdell, D. / Nelken, M. / Muntoni, F. / Bönnemann, C. / Bharucha, D. / Dowling, J. J. / Amburgey, K. / Lilien, C. et al. | 2014
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G.P.38:Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutationsBohm, J. / Biancalana, V. / Malfatti, E. / Taratuto, A. L. / Olive, M. / Eymard, B. / Weis, J. / Romero, N. B. / Laporte, c. u. et al. | 2014
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G.P.43:Gene replacement therapy of myotubular myopathy: Restricting expression of MTM1 in skeletal muscleBuscara, c. u. / Joubert, R. / Moal, C. / Poulard, K. / Martin, S. / Vignaud, A. / Mavilio, F. / Buj-Bello, A. et al. | 2014
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G.P.42:Mild clinical phenotype in two siblings carrying myotubular myopathyMagot, c. u. / Biancalana, V. / Mercier, S. / David, A. / Fayet, G. / Mussini, J. M. / Laporte, J. / Pereon, Y. et al. | 2014
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G.P.41:Canine X-linked myotubular myopathy: A dose-finding study of systemic AAV8-MTM1 effects on muscle strength, gait, respiration, neuromuscular function and survivalMack, D. L. / Goddard, M. / Snyder, J. M. / Doering, J. / Lawlor, M. W. / Moullier, P. / O’Callaghan, M. / Beggs, A. H. / Mavilio, F. / Poulard, K. et al. | 2014
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G.P.45:Therapy of the dynamin 2-linked centronuclear myopathy by mRNA repair using Spliceosome-Mediated RNA Trans-splicing (SMarT) strategyTrochet, c. u. / Prudhon, B. / Jollet, A. / Bitoun, M. et al. | 2014
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G.P.47:Severe congenital myopathy with central nuclei and novel RYR1 gene mutationsChrestian, c. u. / Dowling, J. / Amburgey, K. / Moraes, T. / Cohn, R. / Hawkins, C. / Halliday, W. / McAdam, L. / Biggar, D. / Vajsar, J. et al. | 2014
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G.P.46:Identifying new therapies for RYR1-related myopathies using a novel drug discovery pipelineVolpatti, J. / Burns, A. / Davidson, A. E. / Roy, P. / Dowling, c. u. et al. | 2014
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G.P.44:Clinical features of eight French patients with STIM 1 gene mutationsEymard, c. u. / Ghorab, K. / Laforet, P. / Chevessier, F. / Vallat, J. / Hantai, D. / Romero, N. / Böhm, J. / Laporte, J. et al. | 2014
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G.P.50:Mapping a cardiac actin expression QTL using recombinant inbred mouse modelsBoutilier, J. / Ram, R. / Mehta, M. / Thien, Q. / McNamara, E. L. / Ong, R. / Messineo, A. M. / Balmer, L. / Wallace, A. / Manship, G. et al. | 2014
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G.P.49:RYR1 mutations in adults with acute rhabdomyolysis episodesBompaire, F. / Roux-Buisson, N. / Monnier, N. / Feillet, F. / Romero, N. B. / Laforêt, P. / Behin, c. u. et al. | 2014
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G.P.48:Genotype–phenotype correlations in recessive RYR1-related myopathiesAmburgey, c. u. / Bailey, A. / Hwang, J. H. / Tarnopolsky, M. A. / Bönnemann, C. G. / Medne, L. / Mathews, K. D. / Collins, J. / Daube, J. R. / Wellman, G. P. et al. | 2014
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G.P.53:KL-6/MUC1 is a novel diagnostic marker for GNE-myopathyKurashige, c. u. / Takahashi, T. / Nagano, Y. / Sugie, K. / Watanabe, C. / Maruyama, H. / Ueno, S. / Matsumoto, M. et al. | 2014
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G.P.52:Cardiac impairment in GNE myopathyMalicdan, c. u. / Mian, L. / Leoyklang, P. / Celeste, F. / Despres, D. / Zerfas, P. / Carrillo-Carrasco, N. / Gahl, W. A. et al. | 2014
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G.P.51:Clinical and genetic characterization of distal myopathiesCabrera, c. u. / Junckerstorff, R. / Needham, M. / Lamont, P. J. / Laing, N. G. et al. | 2014
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G.P.57:Novel MYH7-mutations in Norwegian patients with distal myopathySanaker, c. u. / Leren, T. / Miletic, H. / Bindoff, L. A. et al. | 2014
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G.P.54:In vivo GNE interactionsHarazi, c. u. / Becker Cohen, M. / Hinderlich, S. / Mitrani-Rosenbaum, S. et al. | 2014
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G.P.56:A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathyToda, c. u. / Xiong, H. / Oda, T. / Kobayashi, K. / Wang, S. / Satake, W. / Jiao, H. / Yang, Y. / Suzuki, Y. / Sugano, S. et al. | 2014
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G.P.55:GNE myopathy: Assessment of an adeno associated virus AAV2/8 based GNE gene delivery systemMitrani-Rosenbaum, c. u. / Yakovlev, L. / Cohen, M. B. / Rivni, O. / Harazi, A. / Noguchi, S. / Nishino, I. / Fellig, Y. / Argov, Z. et al. | 2014
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G.P.58:The first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutationNishikami, c. u. / Yamashita, S. / Tawara, N. / Mori, A. / Hori, H. / Hirahara, T. / Maeda, Y. / Ando, Y. et al. | 2014
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G.P.60:Cytoplasmic 5′-nucleotidase 1A are aggregated in type 2 fiber in sporadic inclusion body myositisTawara, c. u. / Yamashita, S. / Nishikami, T. / Kawakami, K. / Tawara, A. / Hori, H. / Hirahara, T. / Maeda, Y. / Ando, Y. et al. | 2014
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G.P.59:Muscle pathology as a diagnostic clue to Allgrove syndromeReimann, c. u. / Kohlschmidt, N. / Kappes-Horn, K. / Stepien-Mehring, M. / Tolksdorf, K. / Kuchelmeister, K. et al. | 2014
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G.P.61:Analyses of the pathogenesis in muscle-specific wild-type TDP-43 transgenic miceYamashita, c. u. / Kawakami, K. / Nishikami, T. / Tawara, N. / Maeda, Y. / Ando, Y. et al. | 2014
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G.P.62:Molecular cell stress mechanisms in an in vitro model of IBMSchmidt, c. u. / Wienken, M. / Keller, C. / Schmidt, J. et al. | 2014
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G.P.63:Identification of widespread alterations of RNA metabolism in sporadic inclusion-body myositis using SILAC-based quantitative proteomicsBerger, c. u. / Opialla, T. / Kempa, S. / Spuler, S. et al. | 2014
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G.P.64:Proteomic analysis of rimmed vacuoles in sporadic inclusion body myositis (sIBM)Krause, c. u. / Güttsches, A. K. / Maerkens, A. / Brady, S. / Tegenthoff, M. / Holton, J. / Marcus, K. / Vorgerd, M. / Kley, R. A. et al. | 2014
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G.P.65:Obstructive sleep apnoea and subclinical impairment of respiratory function are common in sporadic inclusion body myositisCruz, c. u. / Needham, M. / Hollingsworth, P. / Mastaglia, F. L. / Hillman, D. R. et al. | 2014
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G.P.66:Real-time MRI for the evaluation of dysphagia in inclusion body myositis (IBM)Carstens, c. u. / Zhang, S. / Olthoff, A. / Bremen, E. / Lotz, J. / Frahm, J. / Schmidt, J. et al. | 2014
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G.P.67:Myositis with invasion of endomysial cell infiltrate but without rimmed vacuoles: Separate phenotype or variant of sporadic inclusion body myositis?de Visser, c. u. / van de Vlekkert, J. / Hoogendijk, J. E. et al. | 2014
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G.P.68:The utility of anti-cN1A autoantibody for the diagnosis of sporadic inclusion body myositisNihimura, c. u. / Suzuki, S. / Noguchi, S. / Uruha, A. / Mitsuhashi, S. / Hayashi, Y. K. / Nonaka, I. / Nishino, I. et al. | 2014
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G.P.69:Th2-M2 immunity in granulomas of neuromuscular sarcoidosis and macrophagic myofasciitisPreuße, C. / Goebel, H. / Pehl, D. / Rinnenthal, J. L. / Allenbach, Y. / Heppner, F. L. / Kley, R. A. / Vorgerd, M. / Authier, F. J. / Gherardi, R. et al. | 2014
- 815
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G.P.70:Classification of inflammatory myopathies- new avenues and future perspectivesAllenbach, Y. / Benveniste, O. / Preusse, C. / Pehl, D. / Goebel, H. / Stenzel, c. u. et al. | 2014
- 816
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G.P.73:Necrotizing autoimmune myopathy: Clinical and histopathological features of 6 patientsKarasoy, c. u. / Yuceyar, A. N. / Ekmekci, O. / Celebisoy, M. et al. | 2014
- 816
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G.P.72:Necrotizing auto-immune Myopathies: New myopathological aspectsAllenbach, c. u. / Rigolet, A. / Stojkovic, T. / Behin, A. / Eymard, B. / Laforet, P. / Mariampillai, K. / Zerbe, N. / Hufnagl, P. / Preusse, C. et al. | 2014
- 816
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G.P.71:Inflammatory myopathy associated with anti-MDA5 antibodies: A new entity?Allenbach, c. u. / Leroux, G. / Rigolet, A. / Hervier, B. / Maisonobe, T. / Authier, F. J. / Aouizerate, J. / Limal, N. / Meyer, A. / Hufnagl, P. et al. | 2014
- 817
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G.P.74:Anti-Signal Recognition Particle associated myopathy in a multiethnic Malaysian populationAmbang, T. / Tan, J. S. / Cheah, T. E. / Shahrizaila, N. / Wong, K. T. / Goh, c. u. et al. | 2014
- 817
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G.P.77:The Lymphoid Follicle Variant of juvenile dermatomyositisRadke, c. u. / Pehl, D. / Aronica, E. / Schonenberg-Meinema, D. / Schneider, U. / Heppner, F. L. / de Visser, M. / Goebel, H. H. / Stenzel, W. et al. | 2014
- 817
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G.P.76:Juvenile dermatomyositis involving large muscle infarction in three casesKoichihara, c. u. / Komaki, H. / Ishiyama, A. / Hayashi, Y. K. / Tsuburaya, R. S. / Saito, T. / Saito, Y. / Nakagawa, E. / Sugai, K. / Sasaki, M. et al. | 2014
- 817
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G.P.75:A rare inflammatory myopathy with cytochrome oxidase negative muscle fiber patient which presents in chidhood: Case reportDiniz, c. u. / Yavascan, O. / Yildirim, Z. / Sarkis, B. / Alparslan, C. / Ozturk, C. et al. | 2014
- 818
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G.P.79:An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathiesRodriguez Cruz, c. u. / Yue-Bei, L. / Miller, J. / Junckerstorff, R. C. / Fabian, V. / Mastaglia, F. L. et al. | 2014
- 818
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G.P.80:Unusual association of juvenile polyarthritis and granulomatous myositis in three siblings from a moroccan consanguineous familyGidaro, c. u. / Bianchi, E. / Hougrand, O. / Florkrin, B. / Misson, J. P. / Barache, F. / Servais, L. et al. | 2014
- 818
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G.P.78:Acute Myositis due to Sarcocystis nesbitii infectionGoh, c. u. / Wong, K. T. / Ramli, N. / Tan, C. T. et al. | 2014
- 819
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G.P.84:Muscle physiology properties of mouse models for Duchenne muscular dystrophyvan Putten, c. u. / Terry, R. / Hulsker, M. / Wells, K. E. / Aartsma-Rus, A. / Wells, D. J. et al. | 2014
- 819
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G.P.83:Assessment of outcome measures for dystrophin deficient miceZschuentzsch, c. u. / Zhang, Y. / Klinker, F. / Jouvenal, P. / Tiburcy, M. / Liebetanz, D. / Brinkmeier, H. / Schmidt, J. et al. | 2014
- 819
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G.P.81Komaki, H. / Endo, Y. / Ishiyama, A. / Nonaka, I. / Hayashi, Y. K. / Nishino, I. et al. | 2014
- 819
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G.P.82:Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscleWalter, c. u. / Klymiuk, N. / Blutke, A. / Graf, A. / Krause, S. / Wuensch, A. / Krebs, S. / Kessler, B. / Zakhartchenko, V. / Kurome, M. et al. | 2014
- 820
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G.P.85:Truncated dystrophin with exon 45–55 deletion induced muscle atrophy and fiber type change through the hyper-nitrosylation of the ryanodine receptor type-1 and constant release of Ca2+to the cytosolTanihata, c. u. / Nagata, T. / Saito, T. / Ito, N. / Aoki, Y. / Nakamura, A. / Takeda, S. et al. | 2014
- 820
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G.P.87:Prospects for single antisense oligonucleotide-induced multiple exon skipping for rare non-hotspot mutations in Duchenne muscular dystrophyJanson, J. A. / Kolfschoten, I. G. / van den Eijnde, R. E. / Weij, R. / Verheul, R. C. / Baghat, A. / Plug, M. M. / de visser, P. C. / van Deutekom, c. u. et al. | 2014
- 820
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G.P.86Kolfschoten, I. G. / Verheul, R. C. / van Deutekom, J. C. / Datson, N. A. et al. | 2014
- 821
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G.P.88:Novel inhibitor of hematopoietic prostaglandin D synthase improves the muscle disorder in an experimental model of Duchenne muscular dystrophyTanaka, c. u. / Aritake, K. / Tayama, M. / Sasaki, E. / Utsugi, T. / Sasaoka, T. / Urade, Y. et al. | 2014
- 821
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G.P.89:New orally available compounds which modulate utrophin expression for the therapy of Duchenne muscular dystrophy (DMD)Fairclough, R. J. / Guiraud, c. u. / Squire, S. E. / Babbs, A. / Edward, B. / Shah, N. / Bracchi, A. / Wilson, F. X. / Horne, G. / Robinson, N. et al. | 2014
- 821
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G.P.90:Effects of S48168/Arm210, a new rycal® compound, on pathology related signs of exercised dystrophic mdx mouseCapogrosso, R. F. / Cozzoli, A. / Giustino, A. / Mantuano, P. / Massari, A. M. / Conte, E. / Cannone, M. / Bellis, M. D. / Liantonio, A. / Camerino, G. M. et al. | 2014
- 822
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G.P.91 :Diapocynin, a putative NADPH oxidase inhibitor, ameliorates the phenotype of a mouse model of Duchenne muscular dystrophyIsmail, c. u. / Scapozza, L. / Ruegg, U. T. / Dorchies, O. et al. | 2014
- 822
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G.P.92 :Persistence and stability at 6months of AAV genome and dystrophin expression in GRMD dogs after forelimb delivery of a recombinant AAV carrying an exon skipping sequenceServais, c. u. / Le Guiner, C. / Montus, M. / Cherel, Y. / Francois, V. / Thibaud, J. L. / Wary, C. / Matot, B. / Larche, T. / Guigand, L. et al. | 2014
- 822
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G.P.93 :Entry and intracellular trafficking of adeno-associated viral 8 (AAV8) vector in DMD muscular cellsManiangou, B. / Cadot, B. / Dorna, M. / Holtzman, I. / Pontoriero, M. / Jollet, A. / Mamchaoui, K. / Lorain, S. / Voit, T. / Pietri-Rouxel, F. et al. | 2014
- 823
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G.P.94 :Induction of the N-truncated dystrophin by out-of-frame exon 2 skipping restores muscle function in the Dup2 mouse, providing further support for a therapeutic pathway for 5′ DMD mutationsWein, c. u. / Vulin, A. / Simmons, T. / Heller, K. N. / Rutherford, A. / Rodino-Kaplac, L. R. / Johnson, D. / Weiss, R. B. / Muntoni, F. / Flanigan, K. M. et al. | 2014
- 823
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G.P.95 :Optimization of micro-dystrophin cassettes for AAV-mediated gene therapyChamberlain, c. u. / Ramos, J. / Banks, G. / Hauschka, S. D. et al. | 2014
- 823
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G.P.96 :Dose escalation studies of rAAV9 U7snRNA targeting exon 2 show highly efficient skipping in the Dup2 mouseSimmons, c. u. / Wein, N. / Vulin-Chaffiol, A. / Heller, K. / Rutherford, A. / Shontz, K. / Flanigan, K. et al. | 2014
- 824
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G.P.99 :The Wilmington Robotic Exoskeleton (WREX) improves upper extremity function in patients with Duchenne muscular dystrophyEstilow, T. / Glanzman, A. / Flickinger, J. / Powers, K. M. / Moll, A. / Medne, L. / Tennekoon, G. / Yum, c. u. et al. | 2014
- 824
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G.P.97 :Prophylactic oral bisphosphonate therapy in Duchenne muscular dystrophy: The Newcastle upon Tyne experienceSarkozy, c. u. / Srinivasan, R. / Rawlings, D. / Guglieri, M. / Owen, C. / Straub, V. / Cheetham, T. / Bushby, K. et al. | 2014
- 824
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G.P.98 :Changes in height and age adjusted DXA bone indices with oral bisphosphonate treatment in Duchenne muscular dystrophyTian, c. u. / Rutter, M. / Hornung, L. / Khoury, J. / Miller, L. / Bange, J. / Rybalsky, I. / Wong, B. et al. | 2014
- 825
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G.P.101 :CAT-1004, a novel anti-Inflammatory agent under development for treatment of Duchenne muscular dystrophyMilne, J. / Donovan, c. u. / Sweeney, L. / Sleeper, M. / Hammers, D. / Jirousek, M. / Curtis, M. et al. | 2014
- 825
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G.P.102 :Utrophin modulators to treat Duchenne muscular dystrophy (DMD): Results from the Phase 1b safety and PK study in DMD boys dosed with SMT C1100Muntoni, F. / Spinty, S. / Roper, H. / Hughes, I. / Ricotti, V. / Bracchi, A. / Horne, G. / Tinsley, c. u. et al. | 2014
- 825
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G.P.100 :Pilot study of flavocoxid in ambulant DMD patientsMessina, S. / Vita, G. L. / Licata, N. / Sframeli, M. / Bitto, A. / Distefano, M. G. / Barcellona, C. / Rosa, M. L. / Romeo, S. / Ciranni, A. et al. | 2014
- 826
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G.P.103 :Biomarker development to support the clinical development of utrophin modulators for Duchenne muscular dystrophy therapyTinsley, c. u. / Janghra, N. / Wilson, F. / Sewry, C. / Horne, G. / Morgan, J. et al. | 2014
- 826
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G.P.106Elfring, G. L. / Reha, A. / Spiegel, R. / Peltz, S. W. / McDonald, C. et al. | 2014
- 826
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G.P.104:Oral small molecule compounds that promote the skipping of exon 51 in the DMD geneNaryshkin, c. u. / Dakka, A. / Gabbeta, V. / Pichardo, J. / Woll, M. G. / Zhang, N. / Karp, G. M. / Welch, E. M. et al. | 2014
- 826
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G.P.105:Preclinical evaluation of tamoxifen and other selective estrogen receptor modulators in mdx5Cv dystrophic miceDorchies, O. M. / Ismail, c. u. / Tardy, S. / Reutenauer-Patte, J. / Dahmane, E. / Décosterd, L. A. / Picard, D. / Ruegg, U. T. / Scapozza, L. et al. | 2014
- 827
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G.P.108:Transient proteinuria with oligonucleotide therapy due to interference with tubular protein reabsorptionden Besten, C. / Jones, S. / Wilmer, M. / Masereeuw, R. / Campion, c. u. et al. | 2014
- 827
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G.P.107:Complementary human skin models as a tool to study oligonucleotide-induced injection site reactionsden Besten, C. / Steevels, T. / Ekhart, P. / Jones, S. / Gibbs, S. / Campion, c. u. et al. | 2014
- 827
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G.P.109:Evaluation of exon skipping activity of 2′- deoxy-2′-fluoro antisense oligonucleotides for Duchenne muscular dystrophyJirka, c. u. / van der Meulen, J. W. / Tanganyika-de Winter, C. L. / van Putten, M. / Hiller, M. / Vermue, R. / de Visser, P. C. / Aartsma-Rus, A. et al. | 2014
- 828
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G.P.110 :Safety and pharmacokinetic profile of eteplirsen, SRP-4045, and SRP-4053, three phosphorodiamidate morpholino oligomers (PMOs) for the treatment of patients with Duchenne muscular dystrophy (DMD)Sazani, P. / Magee, T. / Charleston, J. S. / Shanks, C. / Zhang, J. / Carver, M. / Rodino-Klapac, L. / Sahenk, Z. / Roush, K. / Bird, L. et al. | 2014
- 828
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G.P.112:Pulmonary function is stable through week 120 in patients with Duchenne muscular dystrophy (DMD) treated with exon-skipping drug eteplirsen in phase 2b studyMendell, J. R. / Lowes, L. P. / Alfano, L. / Saoud, J. / Duda, P. / Kaye, c. u. et al. | 2014
- 828
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G.P.111:Development of an ultrasensitive ELISA method for the determination of phosphorodiamidate morpholino oligonucleotide (PMO) levels in biological samplesBurki, c. u. / Blain, A. / Laval, S. / Straub, V. et al. | 2014
- 829
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G.P.113:Drisapersen (DRIS) treatment for Duchenne muscular dystrophy (DMD): Results of up to 188weeks’ follow-up of an open-label extension studyGoemans, c. u. / Tulinius, M. / Wilson, R. / Wardell, C. / Bedwell, P. / Campion, G. et al. | 2014
- 829
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G.P.115:Pooled analyses of efficacy parameters in patients with Duchenne muscular dystrophy (DMD): Results from the drisapersen (DRIS) clinical trial programmeGoemans, c. u. / Voit, T. / McDonald, C. M. / Mercuri, E. / Wilson, R. / Wardell, C. / Campion, G. et al. | 2014
- 829
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G.P.114:Evaluation of efficacy and safety baseline parameters in patients with Duchenne muscular dystrophy (DMD) from three placebo-controlled studies of drisapersen (DRIS)Mercuri, c. u. / Voit, T. / Goemans, N. / McDonald, C. M. / Wilson, R. / Wardell, C. / Campion, G. et al. | 2014
- 830
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G.P.116:SCOPE-DMD, an EU FP7 funded consortium for skipping trail across Europe in Duchenne muscular dystrophyVeldhuizen, c. u. / Campion, G. / Morgan, A. / Aygun, H. / Wojczewski, S. / Voit, T. / Carlier, P. / Verschuuren, J. / Aartsma - Rus, A. / Straub, V. et al. | 2014
- 830
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A.P.1:Proteomic analysis in 72 myofibrillar myopathy (MFM) patients identifies new disease-relevant proteins accumulating in aggregates and reveals subtype-specific proteomic profilesMaerkens, c. u. / Olivé, M. / Tasca, G. / Claeys, K. / Barresi, R. / Sarkozy, A. / Pfeffer, G. / Evangelista, T. / Feldkirchner, S. / Reimann, J. et al. | 2014
- 830
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A.P.2:Proteomic profile of cytoplasmic bodies (CB) compared to non-CB aggregates in HMERF associated with mutations in A-band titinMaerkens, c. u. / Tasca, G. / Pfeffer, G. / Sarkozy, A. / Uszkoreit, J. / Barresi, R. / Vorgerd, M. / Udd, B. / Schröder, R. / Marcus, K. et al. | 2014
- 831
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A.P.3:Unusual extraskeletal involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathiesSemmler, A. L. / Sacconi, S. / Bach, J. E. / Liebe, C. / Bürmann, J. / Kley, R. A. / Ferbert, A. / Anderheiden, R. / Van den Bergh, P. / Martin, J. J. et al. | 2014
- 831
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A.P.4:Cytoplasmic bodies in the muscle of HMERF patients with TTN A150/FN3 119 and kinase domain mutations – An immunofluorescent analysisVihola, c. u. / Palmio, J. / Tasca, G. / Eymard, B. / Evila, A. / Lange, S. / Xiang, F. / Edstrom, L. / Hackman, P. / Gautel, M. et al. | 2014
- 832
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A.P.6 :Autosomal recessive myofibrillar myopathy caused by ACTA1 mutationsGuglieri, M. / Sambuughin, N. / Sarkozy, A. / Barresi, R. / Lochmüller, H. / Bushby, K. / Goldfarb, L. G. / Straub, c. u. et al. | 2014
- 832
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A.P.5:Novel recessive myotilin mutation cause severe myofibrillar myopathySchessl, c. u. / Bach, E. / Rost, S. / Feldkirchner, S. / Kubny, C. / Müller, S. / Hanisch, F. G. / Kress, W. / Schoser, B. et al. | 2014
- 832
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A.P.8:Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure (HMERF)Uruha, c. u. / Hayashi, Y. K. / Mitsuhashi, S. / Noguchi, S. / Nonaka, I. / Nishino, I. et al. | 2014
- 832
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A.P.7:Misfolding of fibronectin III 119 subdomain in titin results in hereditary myopathy with early respiratory failureHedberg, c. u. / Toledo, A. G. / Gustafsson, C. M. / Larson, G. / Oldfors, A. / Macao, B. et al. | 2014
- 833
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A.P.9:Elucidation of the mechanism of disease in BAG3-related myofibrillar myopathyRuparelia, A. A. / Vaz, R. / Bryson-Richardson, c. u. et al. | 2014
- 833
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A.P.11:The pathological spectrum of EPG5-related multisystem disordersByrne, S. / Bodi, I. / Sewry, C. / Goebel, H. H. / Lidov, H. / Dionisi-Vici, C. / Rogers, R. C. / Manchester, D. / Al-Owain, M. / Said, E. et al. | 2014
- 833
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A.P.10:Investigating a novel knock-in mouse model with a mutation (E247K) in the skeletal muscle-specific filamin C geneMcNamara, c. u. / Ravenscroft, G. / Duff, R. M. / Daniel, P. B. / Robertson, S. P. / Laing, N. G. / Nowak, K. J. et al. | 2014
- 834
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A.P.12:A novel, EPG5-related vacuolar myopathyWhyte, c. u. / Byrne, S. / Kho, A. L. / Cullup, T. / Robb, S. / Sewry, C. / Bodi, I. / Hart, N. / Howard, R. / Gautel, M. et al. | 2014
- 834
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A.P.13:Myotonic discharges in autophagic vacuolar myopathies: A potential electrophysiologic markerGutmann, c. u. / Gutmann, L. A. / Moore, S. A. et al. | 2014
- 834
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A.P.14:A new in/del in the critical splicing region of the VMA21 gene causing X-linked myopathy with excessive autophagy (XMEA)Vainzof, c. u. / Lazar, M. / Yamamoto, G. L. / Almeida, C. F. / Onofre-Oliveira, P. / Nogueira, L. / Yamamoto, L. U. / Zatz, M. / Silva, H. C. et al. | 2014
- 835
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A.P.15:Severe early onset cardiomyopathy in females with Danon disease is not caused by skewed X-chromosome inactivationMáthé, G. / Hedberg, C. / Thomson, K. / Karason, K. / Östman-Smith, I. / Oldfors, c. u. et al. | 2014
- 835
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G.P.117:NMR based biomarkers to study age-related degenerative changes in the human quadricepsAzzabou, N. / Hogrel, J. Y. / Carlier, c. u. et al. | 2014
- 835
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A.P.16:LysoPlex: a “preferential exome” strategy to clarify molecular mechanisms of autophagic vacuolar myopathiesDi Fruscio, G. / Savarese, M. / De Cegli, R. / Mutarelli, M. / Singhmarwah, V. / Di Bernardo, D. / Banfi, S. / Ballabio, A. / Nigro, c. u. et al. | 2014
- 836
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G.P.120:The Sodium/Hydrogen Exchanger (NHE-1): A promising novel target for DMDBurki, c. u. / Greally, E. / Laval, S. / Schäfer, S. / Straub, V. et al. | 2014
- 836
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G.P.118:Net muscle volumetry by MRI and bioelectrical impedance analysis for healthy volunteers; an observation studyNakayama, c. u. / Uchiyama, T. / Kuru, S. et al. | 2014
- 836
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G.P.121:Fast, precise, interactive segmentation of skeletal muscle NMR imagesCarlier, c. u. / Shukelovich, A. / Baudin, P. Y. / Boisserie, J. M. / Le Louer, J. / Azzabou, N. et al. | 2014
- 836
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G.P.119:Skeletal muscle fatty degenerative changes can be evaluated both qualitatively and quantitatively from whole-body Dixon NMR images with an important gain in acquisition timeMarty, c. u. / Baudin, P. Y. / Robert, B. / Shukelovich, A. / Azzabou, N. / Carlier, P. G. et al. | 2014
- 837
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G.P.124:Increase in T2 relaxation times in skeletal muscle of Duchenne but not Becker muscular dystrophy patientsWokke, c. u. / van den Bergen, J. C. / Hooijmans, M. H. / Verschuuren, J. J. / Niks, E. H. / Kan, H. E. et al. | 2014
- 837
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G.P.122:T2-spectrum: A novel NMR approach for the characterization of muscle disordersAraujo, c. u. / Carlier, P. G. et al. | 2014
- 837
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G.P.123:NMR imaging of short T2-components in skeletal muscle tissueVignaud, A. / Guillot, G. / Araujo, c. u. / Carlier, P. G. et al. | 2014
- 838
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G.P.126:MRI detects Dp140 dystrophin isoform dependent brain changes in boys with DMDDoorenweerd, c. u. / Straathof, C. S. / Dumas, E. M. / Spitali, P. / Ginjaar, H. B. / Wokke, B. H. / Schrans, D. G. / van den Bergen, J. C. / van Zwet, E. W. / Webb, A. et al. | 2014
- 838
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G.P.127:Reduced cerebral blood flow in boys with Duchenne muscular dystrophyDoorenweerd, c. u. / Dumas, E. M. / Ghariq, E. / Schmid, S. / Straathof, C. S. / Spitali, P. / Ginjaar, H. B. / Wokke, B. H. / Schrans, D. G. / van den Bergen, J. C. et al. | 2014
- 838
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G.P.125:Manganese enhanced muscle MRI as a sensitive outcome measure of dystrophin restoration in the mdx mouseGreally, E. / Blain, A. M. / Ahmed, S. T. / Laval, c. u. / Blamire, A. M. / Straub, V. et al. | 2014
- 839
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G.P.129:Cine-MRI as a new tool to evaluate diaphragmatic dysfunction in Pompe diseaseWens, S. C. / Ciet, P. / Perez-Rovira, A. / Logie, K. / Salamon, E. / Wielopolski, P. / Bruijne, M. / Kruijshaar, M. E. / Tiddens, H. W. / van der Beek, c. u. et al. | 2014
- 839
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G.P.128:Upper limb muscle MRI fat–water quantification and clinical functional correlation in non-ambulant Duchenne muscular dystrophyRicotti, c. u. / Evans, R. B. / Sinclair, C. D. / Morrow, J. M. / Butler, J. W. / Janiczek, R. L. / Hanna, M. G. / Matthews, P. M. / Yousry, T. A. / Muntoni, F. et al. | 2014
- 839
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G.P.130:Tracking the brain in myotonic dystrophy: A 5-year longitudinal neuroimaging and neuropsychological follow-up studyMerkel, c. u. / Minnerop, M. / Roeske, S. / Gaertner, H. / Schoene-Bake, J. C. / Adler, S. / Witt, J. A. / Anspach, C. / Schneider-Gold, C. / Betz, R. C. et al. | 2014
- 840
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G.P.131:Cell membrane integrity in myotonic dystrophy type 1: Implications for therapyGonzález-Barriga, A. / Kranzen, J. / Croes, H. J. / van den Broek, W. J. / van Engelen, B. G. / van Deutekom, J. C. / Wieringa, B. / Mulders, S. A. / Wansink, c. u. et al. | 2014
- 840
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G.P.133:Ankle muscle weakness but not balance trouble account for walking disability in patients with myotonic dystrophy type 1Ollivier, c. u. / Decostre, V. / Ledoux, I. / Servais, L. / Gidaro, T. / Behin, A. / Stojkovic, T. / Eymard, B. / Bassez, G. / Hogrel, J. Y. et al. | 2014
- 840
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G.P.132:Pre-clinical development of peptide-conjugated antisense oligonucleotides for myotonic dystrophy type 1 (DM1)Mulders, S. A. / Aguilera, B. / Gonzalez-Barriga, A. / van de Giessen, J. / van den Broek, W. J. / Wansink, D. G. / van Deutekom, J. C. / Datson, c. u. et al. | 2014
- 841
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G.P.135:Dental and orthodontic aspects of myotonic dystrophy type 1Nadaj, c. u. / Lusakowska, A. / Maciejak, D. / Kaminska, A. M. / Zadurska, M. et al. | 2014
- 841
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G.P.134:Liver functional impairment and glycolipid metabolic abnormality in myotonic dystrophy type 1Takada, c. u. / Kon, S. / Oyama, Y. / Kimura, T. / Nagahata, F. et al. | 2014
- 841
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G.P.136:Muscle channelopathies: Clinical and genetic features in a large cohort of Italian patientsMaggi, c. u. / Brugnoni, R. / Colleoni, L. / Kapetis, D. / Ardissone, A. / Pini, A. / Ricci, G. / Vercelli, L. / Ravaglia, S. / Moroni, I. et al. | 2014
- 842
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G.P.137:Functional study of five new CLC-1 mutations causing myotonia congenita in Italian familiesImbrici, P. / Desaphy, J. F. / Brugnoni, R. / Colleoni, L. / Canioni, E. / Kapetis, D. / Altamura, C. / Bernasconi, c. u. / Morandi, L. / Maggi, L. et al. | 2014
- 842
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G.P.139:Congenital myasthenic syndrome due to novel choline acetyltransferase (ChAT) gene mutations in Kadazandusun family from BorneoTan, J. S. / Ambang, T. / Ahmad-Annuar, A. / Wong, K. T. / Goh, c. u. et al. | 2014
- 842
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G.P.138Yildiz-Celik, S. / Durmus, H. / Hajibehzad, M. / Yilmaz, V. / Oflazer-Serdaroglu, P. / Parman, Y. / Saruhan-Direskeneli, G. / Deyemeer, F. et al. | 2014
- 843
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G.P.141:Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defectÖncel, c. u. / Töpf, A. / Evangelista, T. / Konuşkan, B. / Talim, B. / Abicht, A. / Lochmüller, H. / Topaloglu, H. et al. | 2014
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G.P.140:A novel missense mutation in the AGRN gene causing congenital myasthenic syndrome mimicking neck myopathyKarakaya, c. u. / Ceyhan-Birsoy, O. / Beggs, A. H. / Topaloglu, H. et al. | 2014
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G.P.142:A new EMD gene missense mutation in exon 1 leads to absence of emerin and is responsible for X-linked dilated cardiomyopathy with conduction defects and arrhythmias and almost elusive skeletal muscle featuresBen Yaou, c. u. / Gerard, M. / Chami, K. / Sehier, A. / Belin, A. / Labombarda, F. / Richard, P. / Bonne, G. / Leturcq, F. / Chapon, F. et al. | 2014
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G.P.145:LMNA-related muscular dystrophies: Clinical and histopathological spectrum in ArgentinaMonges, c. u. / Lubieniecki, F. / de Castro, F. / Lafuente, V. / Gonzalez, M. / Reyes, G. / Chertkoff, L. / Quijano-Roy, S. / Romero, N. B. / Richard, P. et al. | 2014
- 844
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G.P.143:Muscle MRI and CT help to differentiate between mutations in emerin and lamin A/C gene in patients with Emery–Dreifuss clinical phenotypesDíaz-Manera, c. u. / Alejaldre, A. / Gonzalez, L. / Rojas-García, R. / Olivé, M. / Llauger, J. / Gallardo, E. / Gonzalez-Quereda, L. / Carbonell, P. / Marquez, C. et al. | 2014
- 844
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G.P.144:Identification of both LMNA and SMCHD1 mutations in a case with overlapping phenotypesStojkovic, c. u. / Richard, P. / Charron, P. / Rondeau, S. / JeanPierre, M. et al. | 2014
- 845
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G.P.148:FHL1 mutations are causing familial aortic and other arterial aneurysms with scapuloperoneal myopathySchessl, c. u. / Kress, W. / Feldkirchner, S. / Schoser, B. et al. | 2014
- 845
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G.P.147:Two novel epsilon isoforms of nesprin-2, a protein linked to Emery–Dreifuss muscular dystrophyHolt, I. / Nguyen, T. D. / Le, L. T. / Zhang, Q. / Sewry, C. A. / Shanahan, C. M. / Morris, c. u. et al. | 2014
- 845
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G.P.146:Cardiac manifestations and gastro-intestinal sequelae in children with LMNA-CMDDabaj, c. u. / Heller, F. / Quijano-Roy, S. / Mah, J. K. / Rutkowski, A. / Estournet, B. / Clegg, R. / Wahbi, K. et al. | 2014
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G.P.150:Clinical heterogeneity in adult forms of FHL1 related myopathies. The “Institut de Myologie” experienceBen Yaou, c. u. / Stojkovic, T. A. / Laforet, P. A. / Becdelievre, A. L. / Becane, H. E. / Wahbi, K. A. / Navarro, C. A. / Fardeau, M. I. / Romero, N. O. / Richard, P. A. et al. | 2014
- 846
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G.P.151:Loss of FHL1 function impairs motility and causes myopathy in vivoKeßler, c. u. / Kieltsch, A. / Kayvanpour, E. / Schoser, B. / Schessl, J. / Rottbauer, W. / Just, S. et al. | 2014
- 846
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G.P.149:Unique brick-red auto-fluorescence of reducing bodies and protein aggregates is a useful diagnostic biopsy marker for FHL1-associated myopathiesPhadke, c. u. et al. | 2014
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G.P.152Leach, M. E. / Donkervoort, S. / Simpson, K. / Tesi-Rocha, A. C. / Avery, R. / Dastgir, J. / Reyes, C. / Hu, Y. / Winder, T. L. / Bonnemann, C. G. et al. | 2014
- 847
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G.P.153:Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsTajsharghi, c. u. / Hammans, S. / Lindberg, C. / Lossos, A. / Clarke, N. F. / Mazanti, I. / Waddell, L. B. / Fellig, Y. / Foulds, N. / Katifi, H. et al. | 2014
- 847
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G.P.154:Mutations in ECEL1 lead to distal arthrogryposis type 5DWhyte, c. u. / Cirak, S. / Oprea, I. / Beales, P. / Osborn, D. / Busch, K. / Hurles, M. / Longman, C. / Quinlivan, R. / Sewry, C. et al. | 2014
- 848
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G.P.155:A first Asian MEGF10 myopathy due to novel homozygous mutationTakayama, c. u. / Mitsuhashi, S. / Noguchi, S. / Hayashi, Y. K. / Nonaka, I. / Nishino, I. et al. | 2014
- 848
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G.P.157:Clinical and pathological features associated with mutations in MICU1Childs, c. u. / Pysden, K. / Roper, H. / Chow, G. / Niks, E. H. / Kriek, M. / Chinnery, P. F. / Lewis-Smith, D. / Duchen, M. / Szabadkai, G. et al. | 2014
- 848
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G.P.156:Mutations in FAM111B cause Hereditary Fibrosing Poikiloderma with tendon contracture, myopathy and pulmonary fibrosisMercier, c. u. / Küry, S. / Magot, A. / Bodak, N. / Bou-Hanna, C. / Cormier-Daire, V. / David, A. / Faivre, L. / Figarella-Branger, D. / Gherardi, R. et al. | 2014
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G.P.158:A case of centronuclear myopathy, dysmorphisms, short stature, prominent cerebellar folia with mixed central and peripheral signs: Can a multisystem condition with autophagy provide a unified explanation?Majumdar, c. u. / Fadiliah, A. / Vijayakumar, K. / Greenslade, M. / Kurian, K. et al. | 2014
- 849
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G.P.159:Cylindrical spirals originate from sarcoplasmic reticulum of muscles in two Chinese siblingsYan, c. u. / Xu, J. W. / Zhao, Y. Y. / Li, W. et al. | 2014
- 849
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G.P.160:Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathyMitsuhashi, c. u. / Mitsuhashi, H. / Alexander, M. S. / Sugimoto, H. / Kang, P. B. et al. | 2014
- 850
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L.I.1:Autosomal dominant limb-girdle muscular dystrophiesUdd, c. u. et al. | 2014
- 850
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L.I.3:Novel disease mechanisms in myopathiesMuntoni, c. u. et al. | 2014
- 850
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L.I.4:Developing therapies in the LGMDsFlanigan, c. u. et al. | 2014
- 850
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L.I.2:The ABC of autosomal recessive limb girdle muscular dystrophyStraub, c. u. et al. | 2014
- 851
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G.O.7:Multiple genetic variations in limb-girdle muscular dystrophiesSavarese, M. / Di Fruscio, G. / Torella, A. / Mutarelli, M. / Comi, G. P. / Mongini, T. / Ricci, E. / Angelini, C. / Fanin, M. / Pegoraro, E. et al. | 2014
- 851
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G.O.8:A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)Vieira, N. M. / Naslavsky, M. S. / Licinio, L. / Kok, F. / Schlesinger, D. / Vainzof, M. / Sanchez, N. / Kitajima, J. P. / Gal, L. / Cavaçana, N. et al. | 2014
- 851
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G.O.9:AAV gene transfer utilizing homologous overlap vectors mediates functional recovery of dysferlin deficiencySondergaard, c. u. / Griffin, D. A. / Pozsgai, E. R. / Johnson, R. W. / Mendell, J. R. / Rodino-Klapac, L. R. et al. | 2014
- 852
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G.O.10:Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in boys with Duchenne muscular dystrophyMankodi, c. u. / Janiczek, R. / Froeling, M. / Azzabou, N. / Gaur, L. / Stock, D. / Evers, R. / Bishop, C. / Yao, L. / Grunseich, C. et al. | 2014
- 852
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G.O.11:Longitudinal quantitative muscle MRI in 5 Duchenne boys treated with exon 51 skipping – A pilot studyHooijmans, c. u. / Wokke, B. H. / Goemans, N. / Campion, G. / Verschuuren, J. J. / Niks, E. H. / Kan, H. E. et al. | 2014
- 852
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G.O.12:Semi-automated analysis of diaphragmatic motion during deep breathing using dynamic MRI in both healthy controls and non-ambulant Duchenne muscular dystrophyBishop, C. A. / Ricotti, c. u. / Sinclair, C. D. / Butler, J. / Evans, R. B. / Morrow, J. M. / Hanna, M. G. / Matthews, P. M. / Yousry, T. A. / Thornton, J. S. et al. | 2014
- 853
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G.O.13:One year follow-up of Duchenne muscle dystrophy with nuclear magnetic resonance imaging and spectroscopy indicesWary, C. / Azzabou, N. / Zehrouni, K. / Le Louer, J. / Montus, M. / Voit, T. / Servais, L. / Carlier, c. u. et al. | 2014
- 853
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G.O.14:The burden of Duchenne muscular dystrophy: An international, cross-sectional studyLandfeldt, E. / Lindgren, P. / Bell, C. F. / Schmitt, C. / Guglieri, M. / Straub, V. / Lochmuller, H. / Bushby, K. et al. | 2014
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G.P.161:Improving the diagnosis of Duchenne muscular dystrophyGuglieri, M. / van Ruiten, H. J. / Straub, V. / Bushby, c. u. et al. | 2014
- 854
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G.P.163:Clinical features of Duchenne muscular dystrophy aged over 40 yearsSaito, c. u. / Kawai, M. / Matsumura, T. / Fujimura, H. / Sakoda, S. et al. | 2014
- 854
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G.P.162:The impact of reduced ankle range of movement on the functional abilities of patients with Duchenne muscular dystrophyButler, c. u. / Main, M. / Muntoni, F. et al. | 2014
- 854
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G.P.164:Physical ability and health in a non-steroid population of 77 adult patients with Duchenne muscular dystrophyWerge, B. / Rahbek, c. u. / Madsen, A. / Marquardt, J. / Werlauff, U. / Steffensen, B. F. et al. | 2014
- 855
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G.P.165:Becoming an adult with Duchenne muscular dystrophy in CanadaMcAdam, c. u. / Mah, J. / Biggar, W. D. et al. | 2014
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G.P.166:Comparative economic impact of therapeutic innovation on health care burden of Duchenne Muscular Dystrophy (DMD) using Becker Muscular Dystrophy (BMD) as a comparator for potential clinical outcome corridorSchreiber, c. u. / Klug, C. / Thiele, S. / Schorling, E. / Zowe, J. / Reilich, P. / Nagels, K. / Walter, M. C. et al. | 2014
- 855
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G.P.167:Clinical trial readiness for non-ambulatory boys and men with Duchenne muscular dystrophy: 12 and 24 month follow-up from the MDA–DMD NetworkConnolly, c. u. / Malkus, E. C. / Schierbecker, J. R. / Siener, C. A. / Anand, P. / Mendell, J. R. / Flanigan, K. M. / Golumbek, P. T. / Zaidman, C. M. / McDonald, C. M. et al. | 2014
- 856
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G.P.170:Bone mineral density and body composition in 39 Duchenne muscular dystrophy patients: A two-years follow upPasanisi, c. u. / Vai, S. / Baranello, G. / Maggi, L. / Moroni, I. / Arnoldi, M. T. / Bussolino, C. / Brenna, G. / Bianchi, M. L. / Morandi, L. et al. | 2014
- 856
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G.P.169:Non-fatal fat embolism syndrome in Duchene muscular dystrophyMcAdam, c. u. / MacLeod, K. / Serrao, N. / Biggar, W. D. et al. | 2014
- 856
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G.P.168:Time-dependent development of fibrosis and inflammation in Duchenne Muscular DystrophyPreuße, c. u. / Schara, U. / Goebel, H. H. / Zerbe, N. / Hufnagl, P. / Heppner, F. L. / von Moers, A. / Stenzel, W. et al. | 2014
- 857
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G.P.172:Renal function in children and adolescents with Duchenne muscular dystrophy: a prospective studyDe Waele, c. u. / Braat, E. / Vermeersch, P. / Gheysens, O. / Levtchenko, E. / Pottel, H. / Hoste, L. / Goemans, N. et al. | 2014
- 857
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G.P.173:Are current formulas for estimated glomerular filtration rate reliable in children and adolescents with Duchenne muscular dystrophy?De Waele, c. u. / Braat, E. / Vermeersch, P. / Gheysens, O. / Levtchenko, E. / Pottel, H. / Hoste, L. / Goemans, N. et al. | 2014
- 857
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G.P.171:Age-specific prevalence of osteoporosis and frequency of poor bone health indices in Duchenne Muscular DystrophyTian, c. u. / Wong, B. / Hornung, L. / Khoury, J. / Miller, L. / Bange, J. / Rybalsky, I. / Rutter, M. et al. | 2014
- 858
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G.P.177:Constipation in Duchenne muscular dystrophy: Common, underdiagnosed and undertreatedKraus, D. / Wong, c. u. / Hu, S. Y. / Horn, P. / Rybalsky, I. / Shellenbarger, K. C. / Kaul, A. et al. | 2014
- 858
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G.P.174:Behavioral and neurocognitive profile in Duchenne Muscular DystrophyColombo, P. / Civati, F. / Mani, E. / Gandossini, S. / Brighina, E. / Comi, G. P. / Bresolin, N. / Turconi, A. C. / Molteni, M. / Nobile, M. et al. | 2014
- 858
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G.P.175:Cognitive and neurobehavioral profile and its relation with genotype mutation in boys with Duchenne muscular dystrophyBanihani, R. / Smile, S. / Yoon, G. / Mosleh, M. / Snider, A. / McAdam, L. C. et al. | 2014
- 858
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G.P.176:Steroid therapy and respiratory function in Duchenne muscular dystrophyD’Angelo, c. u. / LoMauro, A. / Romei, M. / Gandossini, S. / Brighina, E. / Marchi, E. / Bresolin, N. / Aliverti, A. et al. | 2014
- 859
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G.P.180:Evaluation of cardiologic status in carriers of Duchenne Muscular DystrophySchoenecker, A. / Schelhorn, J. / Schlosser, T. W. / Neudorf, U. / Schara, c. u. et al. | 2014
- 859
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G.P.178:BMI but not height correlates with timed motor function tests of DMD patients on long term daily glucocorticoid therapyWong, c. u. / Lee, H. N. / Horn, P. / Hu, S. Y. / Bange, J. / Godshall, B. / Rybalsky, I. et al. | 2014
- 859
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G.P.179:Association between resting energy expenditure and body weight change in patients with Duchenne muscular dystrophyBaba, c. u. / Takanoha, S. / Ishiyama, A. / Komaki, H. / Takeshita, E. / Imaizumi, H. / Abe, Y. / Kobayashi, M. / Kumazawa, Y. / Sasaki, M. et al. | 2014
- 860
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T.P.1:Pilot study evaluating motivation on the performance of timed walking in boys with Duchenne muscular dystrophyAlfano, c. u. / Lowes, L. P. / Berry, K. M. / Yin, H. / Dvorchik, I. / Flanigan, K. M. / Cripe, L. / Mendell, J. R. et al. | 2014
- 860
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T.P.2:The age of ambulation in boys with Duchenne muscular dystrophy and its use as an end-point in clinical trialsGissy, J. J. / Johnson, T. / Fox, D. J. / Kumar, A. / Ciafaloni, E. / Kim, S. / Yang, M. / van Essen, A. J. / Finkel, R. S. et al. | 2014
- 860
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G.P.181:Early onset and severe X-linked dilated cardiomyopathy with epilepsy, behavioral abnormalities and elevated CK due to DMD gene intron 1 splice site mutationBen Yaou, c. u. / Nectoux, J. U. / Iserin, F. R. / Ould Amar, S. A. / Romero, N. O. / Varnous, S. H. / Leturcq, F. R. / Laforet, P. A. et al. | 2014
- 861
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T.P.3:Gait velocity in boys with Duchenne muscular dystrophy -impact of overweight, muscle strength and range of motion on gait velocityWahlgren, c. u. / Kroksmark, A. K. et al. | 2014
- 861
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T.P.4Mazzone, E. S. / Pane, M. / Sivo, S. / Palermo, C. / Sormani, M. P. / Messina, S. / D'Amico, A. / Vita, G. L. / Fanelli, L. / Berardinelli, A. et al. | 2014
- 861
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T.P.5:Timed function tests and other physical function outcomes in Ataluren-treated patients with nonsense mutation Duchenne Muscular Dystrophy (nmDMD)McDonald, c. u. / Reha, A. / Elfring, G. L. / Peltz, S. W. / Spiegel, R. et al. | 2014
- 862
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T.P.7:Prediction equation to estimate 6-Minute-Walk-Distance from motor function tests in patients with Duchenne Muscular DystrophyWong, c. u. / Hu, S. Y. / Horn, P. / Morehart, P. / McGuire, M. / McCormick, A. et al. | 2014
- 862
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T.P.6:Six minute walk test: reference values and prediction equation in healthy boys aged 5 to 12yearsGoemans, c. u. / Klingels, K. / Hauwe, M. v. / Feys, H. / Buyse, G. et al. | 2014
- 862
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T.P.8:PODCI subscales are sensitive to differences in disease stage and disease progression in DMDHenricson, E. K. / Cnaan, A. / Abresch, R. T. / McDonald, c. u. / The CINRG Investigators, A. et al. | 2014
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T.P.9:Development of a cloud computing for Holter movement analysis in neuromuscular diseasesLe Moing, c. u. / Totoescu-Seferian, A. / Moraux, A. / Dorvaux, E. / Porteix, N. / Annoussamy, M. / Pelegry, C. / Taibi, A. / Vissière, D. / Hogrel, J. Y. et al. | 2014
- 863
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T.P.11:Longitudinal assessment of Upper Limb function in DMD patients: 12month changesPane, c. u. / Mazzone, E. S. / Fanelli, L. / Sanctis, R. D. / Palermo, C. / Sivo, S. / D’Amico, A. / Messina, S. / Politano, L. / Battini, E. et al. | 2014
- 863
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T.P.12:The performance of upper limb scores correlate with pulmonary function test measures and Egen Klassifikation scores in Duchenne muscular dystrophyLee, c. u. / Sawnani, H. / Horn, P. / Relucio, L. / Wong, B. L. et al. | 2014
- 863
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T.P.10:6min walk test and Performance of Upper Limb in ambulant DMD boysPane, M. / Palermo, C. / Sivo, S. / Mazzone, E. / Fanelli, L. / Sanctis, R. D. / D’Amico, A. / Messina, S. / Politano, L. / Battini, R. et al. | 2014
- 864
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G.P.182Nascimento, A. / Dominguez, J. / Mati, R. / Ortez, C. / Madruga, M. / Emperador, S. / Montoya, J. / Aguirre, J. / Jou, C. / Colomer, J. et al. | 2014
- 864
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T.P.13:Upper limb performance changes during a one-year follow-up in non-ambulant patients with Duchenne muscular dystrophySeferian, c. u. / Moraux, A. / Annoussamy, M. / Canal, A. / Decostre, V. / Diebate, O. / Le Moing, A. G. / Gidaro, T. / Deconinck, N. / Parys, F. V. et al. | 2014
- 864
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T.P.14:Arm elevation assessment (area) for Duchenne muscular dystrophy: Preliminary study of a practical instrument for professionalsKaraduman, c. u. / Alemdaroglu, I. / Yilmaz, O. / Topaloglu, H. et al. | 2014
- 865
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G.P.185:The novel non-sense mutation m.4214G>A in MT-ND1 results in mitochondrial myopathy with severe complex I deficiencyRonchi, c. u. / Sciacco, M. / Bordoni, A. / Colombo, I. / Piga, D. / Fortunato, F. / Moggio, M. / Comi, G. P. et al. | 2014
- 865
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G.P.183:TK2 mutation: An expanding clinical phenotypeRam, c. u. / Hughes, M. I. et al. | 2014
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G.P.184:Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutationsRoos, c. u. / Lindgren, U. / Ehrstedt, C. / Moslemi, A. R. / Oldfors, A. et al. | 2014
- 866
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G.P.189:Exercise intolerance associated with atypical facial muscle hypertrophy related to mitochondrial tRNA (Pro) gene mutationPéréon, Y. / Magot, c. u. / Fayet, G. / Mercier, S. / Mussini, J. M. / Auré, K. / Lombès, A. / Jardel, C. et al. | 2014
- 866
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G.P.186:Gene expression profile of cybrid cells harbouring a mitochondrial DNA mutation in the MT-ATP6 gene reveals new pathogenic pathwayFayet, c. u. / Aure, K. / Lesimple, P. / L’Hermitte-Stead, C. / Chevalier, C. / Magot, A. / Houlgatte, R. / Pereon, Y. / Lombes, A. / Savagner, F. et al. | 2014
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G.P.188:Autosomal recessive Kearns-Sayre syndrome in a girl with altered mitochondrial DNA transcription caused by RRM2B gene defectWilichowski, c. u. / Abicht, A. / Mayr, H. / Horvath, R. / Sperl, W. / Gärtner, J. et al. | 2014
- 866
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G.P.187:MTO1 mutation in type 2 fiber lipid storage myopathyBakhshandeh Bali, c. u. / Noguchi, S. / Nishino, I. et al. | 2014
- 867
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G.P.191:What factors are associated with the prevalence of sub-sarcolemmal mitochondrial aggregates (SSMA) in paediatric skeletal muscle? Examining the use and limitations of SSMA as a diagnostic muscle biopsy markerCortese, A. / Ellis, M. / Fratter, C. / Fox, Z. / Chambers, D. / Hodsdon, P. / Hargreaves, I. / Kinali, M. / Rahman, S. / Sewry, C. et al. | 2014
- 867
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G.P.190:Multiple deletions in mitochondrial DNA in myofibrillar myopathy and centronuclear myopathySchaefer, J. / Reuner, U. / Reichmann, H. / Meinhardt, M. / Jackson, c. u. et al. | 2014
- 868
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T.P.15:Enzymotherapy in late onset Pompe disease patients: a 4-year longitudinal study using quantitative MRIDoche, E. / Salort-Campana, c. u. / Le Troter, A. / Attarian, S. / Pouget, J. / Bendahan, D. et al. | 2014
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G.P.194:Intramuscular variation in mitochondrial functionality and sarcoplasmic proteome profile of bovine semimembranosus muscleNair, M. N. / Suman, c. u. / Ramanathan, R. / Chatli, M. K. / Li, S. / Joseph, P. / Beach, C. M. / Rentfrow, G. et al. | 2014
- 868
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G.P.192Radke, J. / von Au, K. / Dreesmann, M. / von Pein, H. / Stenzel, W. / Goebel, H. H. et al. | 2014
- 868
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G.P.193:Ataxia, core myopathy, beta-ketothiolase deficiency, dentate nuclear abnormalities and learning difficulties in a pair of consanguineous siblings. A new association or double trouble?Majumdar, c. u. / Pierre, G. / Bowron, A. / Love, S. / Kurian, K. et al. | 2014
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T.P.16:Clinical and molecular characteristics of 33 patients with Late Onset Pompe Disease (LOPD): Unusual phenotypes, novel mutations and therapeutic responsesMontagnese, F. / Musumeci, O. / Barca, E. / Romeo, S. / Ciranni, A. / Aguennouz, M. / Rodolico, C. / Toscano, c. u. et al. | 2014
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T.P.17:Asymptomatic Pompe disease: A study of 6 patientsLaforêt, c. u. / Carlier, R. Y. / Laloui, K. / Carlier, P. / Salort-Campana, E. / Pouget, J. / Echaniz-Laguna, A. et al. | 2014
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T.P.18:Late-onset Pompe disease: Histopathological, biochemical and clinical assessment before and after ERTSciacco, c. u. / Ronchi, D. / Ripolone, M. / Violano, R. / Lucchini, V. / Xhani, R. / Comi, G. P. / Fortunato, F. / Bordoni, A. / Tonin, P. et al. | 2014
- 870
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T.P.19:Effects of antibody formation during enzyme replacement therapy in 73 adult patients with Pompe diseasede Vries, c. u. / Kuperus, E. / Hoogeveen-Westerveld, M. / Wens, S. C. / Kroos, M. A. / Kruijshaar, M. E. / van Doorn, P. A. / van der Ploeg, A. T. / Pijnappel, W. W. et al. | 2014
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T.P.21:Assessing immunogenicity of rhGAA in adult Pompe disease subjectsMasat, c. u. / Laforet, P. / Amelin, D. / Veron, P. / Laloui, K. / Benveniste, O. / Mingozzi, F. et al. | 2014
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T.P.20:Effect of enzyme replacement therapy in late onset Pompe disease: Open pilot study of 60weeks follow upPark, c. u. / Park, Y. E. / Choi, Y. C. / Shin, J. H. / Lee, J. M. / Kim, D. S. et al. | 2014
- 871
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T.P.24:Alglucosidase alfa reduces lysosomal glycogen in skeletal muscle biopsies of patients with late-onset Pompe disease (LOPD)Thurberg, c. u. / van der Ploeg, A. / Kissel, J. T. / Schoser, B. / Pestronk, A. / Barohn, R. J. / Goker-Alpan, O. / Mozaffar, T. / Pena, L. D. / Simmons, Z. et al. | 2014
- 871
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T.P.23:Search for Pompe patients in patients with undetermined myopathies in South-West SwedenLindberg, c. u. / Andersson, B. / Oldfors, A. et al. | 2014
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T.P.22:Two cases of late-onset Pompe disease treated with enzyme replacement therapy: Clinical outcome for 3years follow-upLee, c. u. / Cho, Y. N. / Park, H. J. / Choi, Y. C. et al. | 2014
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T.P.25:The benefit of attending a McArdle disease multidisciplinary clinic: Preliminary results on two outcome measuresChatfield, c. u. / Pattni, J. / Ellerton, C. / Carruthers, R. / Godfrey, R. / Quinlivan, R. et al. | 2014
- 872
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T.P.26:McArdle disease misdiagnosed as meningitis: A case reportScalco, c. u. / Chatfield, S. / Pattni, J. / Ellerton, C. / Beggs, A. / Godfrey, R. / Holton, J. L. / Quinlivan, R. et al. | 2014
- 872
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T.P.27:Diagnostic power of the non-ischemic forearm exercise test in glycogenosis type Vvan den Bogaart, c. u. / Laforêt, P. / Ledoux, I. / Petit, F. / Koujah, N. / Béhin, A. / Stojkovic, T. / Eymard, B. / Voermans, N. / Hogrel, J. Y. et al. | 2014
- 873
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T.P.29:Role of AMP deaminase and adenylate kinase in production of ammonia in skeletal muscle of patients with McArdle’s diseaseJoshi, c. u. / Apitz, T. / Zierz, S. et al. | 2014
- 873
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T.P.31:Neurite length can be an outcome parameter for drug screening in multiple acyl-CoA dehydrogenase deficiencyLin, Y. F. / Liu, D. E. / Nishino, I. / Jong, Y. J. / Liang, c. u. et al. | 2014
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T.P.28:The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type V: A case reportPark, c. u. / Lee, J. H. / Suh, B. C. / Shin, H. Y. / Choi, Y. C. et al. | 2014
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T.P.30:Recurrent episodes of myoglobinuria, mental retardation and epilepsy but no haemolysis in two brothers with phosphoglycerate kinase deficiencyCoppens, c. u. / Deconinck, N. / van Wijk, R. / Koralkova, P. / Bogaert, P. V. / Aeby, A. et al. | 2014
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T.P.33:Clinical and genetic characterization of patients with repeated rhabdomyolysisCabrera, c. u. / Ghaoui, R. / Mourdant, D. / Lamont, P. J. / Clarke, N. / Laing, N. G. et al. | 2014
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T.P.34:A family with epilepsy, movement disorders, mental retardation and exercise-induced myoglobinuria: A complex phenotype caused by two different rare disordersToscano, c. u. / Ferlazzo, E. / Romeo, S. / Montagnese, F. / Aguglia, U. / Rodolico, C. / Musumeci, O. et al. | 2014
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T.P.32:Sensory neuropathy as a major clinical feature of LCHAD deficiencySouvannanorath, S. / Maisonobe, T. / Valayannopoulos, V. / Nadjar, Y. / Mochel, F. / Boutron-Corriat, A. / Brivet, M. / Laforêt, c. u. et al. | 2014
- 875
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G.P.196:Metabolic effects of the Compact myostatinKocsis, T. / Baan, J. A. / Mendler, L. / Dux, L. / Keller-Pinter, c. u. et al. | 2014
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G.P.195:BMP signaling controls satellite cell dependent postnatal muscle growthBeley, C. / Schirwis, E. / Mouisel, E. / Alonso-Martin, S. / Rochat, A. / Garcia, L. / Ferry, A. / Relaix, F. / Schuelke, M. / Le Grand, F. et al. | 2014
- 875
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G.P.197:Strongman syndrome: Clinical, pathological and genetic characterization of dominant herculean myalgic disordersConte, T. C. / Tetreault, M. / Dicaire, M. J. / Provost, S. M. / Al-Bustani, N. / Beland, B. / Dube, M. P. / Bolduc, V. / Srour, M. / O’Ferrall, E. et al. | 2014
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G.P.200:The expression profile of developmental markers in diagnostic muscle biopsies indicates the presence of a “neurogenic muscle regeneration”Danielsson, c. u. / Gröntoft, L. / Häggqvist, B. / Gati, I. / Vrethem, M. / Ernerudh, J. et al. | 2014
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G.P.199:In vitro engineered muscle: Identification and characterization of murine dermal precursor cells with myogenic potentialGarcía-Parra, c. u. / Naldaiz-Gastesi, N. / Goicoechea, M. / Alonso-Martín, S. / Aiastui, A. / López-Mayorga, M. / García-Belda, P. / Lacalle, J. / Berre, V. L. / Matheu, A. et al. | 2014
- 876
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G.P.198:Selenoprotein N and oxidative stress are novel regulators of myogenesis and muscle cell stemnessArbogast, S. / Rowell, J. / Pannérec, A. / Serreri, C. / Ramahefasolo, C. / Ferreiro, c. u. et al. | 2014
- 877
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G.P.201:Aberrant mechanical–metabolic coupling in muscular dystrophy: Gene expression and functional studies in mdx mouse muscle in relation to age and exerciseCamerino, G. M. / Capogrosso, R. F. / Cannone, M. / Mantuano, P. / Giustino, A. / Massari, A. M. / Cozzoli, A. / Grange, R. W. / De Luca, c. u. et al. | 2014
- 877
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G.P.202:Characterization of skeletal muscle and heart during aging in rats, and response to formoterol, a selective β2 adrenoceptor agonist, in aged ratsLambert, C. / Boesch, J. / Obrecht, M. / Grosjean, J. / Allegrini, P. R. / Hatakeyama, c. u. et al. | 2014
- 877
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G.P.203:IL-6- and calcineurin-mediated but not IGF-1-mediated mechanisms contribute to the upregulation of MHC I and HSP70 mRNA levels in C2C12 cellsMori, c. u. / Yamaji, J. / Hiroshima, R. / Nakano, T. / Miyazaki, A. / Watanabe, M. et al. | 2014
- 878
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G.P.204:The effect of water-soluble fullerene in muscle regeneration processIshii, c. u. / Yoshida, M. / Ohkoshi, N. / Ueno, H. / Kokubo, K. / Tamaoka, A. et al. | 2014
- 878
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G.P.205:A modified cysteine knot ligand trap of the TGFβ superfamily, ACE-083, increases muscle mass locally in a mouse model of Duchenne muscular dystrophyMulivor, c. u. / Sako, D. / Cannell, M. / Wallner, S. / Hevron, K. / Steeves, R. / Castonguay, R. / Pearsall, R. S. / Kumar, R. et al. | 2014
- 878
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G.P.206:Consequences of dietary challenge and aging on macroautophagy in Myf5+ cells and muscleSarparanta, c. u. / Martinez-Lopez, N. / Sahu, S. / Singh, R. et al. | 2014
- 879
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G.P.208:Whole body MRI in SEPN1-related myopathy shows an homogeneous and recognisable patternDabaj, c. u. / Hankiewicz, K. / Carlier, R. / Lazaro, L. / Linzoain, J. / Barnerias, C. / Avila-Smirnow, D. / Andres, D. G. / Ferreiro, A. / Estournet, B. et al. | 2014
- 879
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G.P.209Arbogast, S. / Dill, C. / Ramahefasolo, C. / Piemonte, F. / Serreri, C. / Lescure, A. / Ferry, A. / Bonay, M. / Bertini, E. / Ferreiro, A. et al. | 2014
- 879
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G.P.207:Clinical and genetic spectrum in a large cohort of patients with a genetic diagnosis of congenital muscular dystrophies: Analysis of the UK diagnostic service 2001–2013Sframeli, c. u. / Sarkozy, A. / Astrea, G. / Scoto, M. / Feng, L. / Mein, R. / Yau, M. / Phadke, R. / Sewry, C. / Messina, S. et al. | 2014
- 880
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G.P.210Onofre-Oliveira, P. C. / Martins, P. C. / Almeida, C. F. / Lanzotti, A. / Vainzof, M. et al. | 2014
- 880
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G.P.213Guadagnin, E. / Dastgir, J. / Yang, L. / Johnson, K. / Wang, Q. / Hu, Y. / Dillmann, A. / Cookson, M. / Bonnemann, C. et al. | 2014
- 880
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G.P.211Yanay, N. / Kasis, I. / Elbaz, M. / Laban, S. / Issa, B. / Rabie, M. / Mitrani-Rosenbaum, S. / Nevo, Y. et al. | 2014
- 880
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G.P.212Meinen, S. / Maier, G. / Chauhan, M. / Lin, S. / McKee, K. K. / Crosson, S. C. / Yurchenco, P. D. / Ruegg, M. A. et al. | 2014
- 881
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G.P.215Deconinck, N. / De Paepe, B. / Symoens, S. / Vanlander, A. / Gartioux, C. / Allamand, V. / Smet, J. / Devreese, B. / Van Coster, R. et al. | 2014
- 881
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G.P.214Hu, Y. / Donkervoot, S. / Stojkovic, T. / Voermans, N. / Foley, A. R. / Leach, M. / Dastgir, J. / Bolduc, V. / Cullup, T. / Becdelievre, A. et al. | 2014
- 881
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G.P.216Bolduc, V. / Zou, Y. / Lindow, M. / Obad, S. / Bonnemann, C. G. et al. | 2014
- 882
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G.P.217Noguchi, S. / Ogawa, M. / Nishino, I. et al. | 2014
- 882
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G.P.218Osorio-Conles, O. / Rodriguez, M. A. / Paco, S. / Nascimento, A. / Gomez-Foix, A. M. / Jimenez-Mallebrera, C. et al. | 2014
- 882
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G.P.219Ghaoui, R. / Corbett, A. / Needham, M. / Farrar, M. / Sampaio, H. / Mowat, D. / Rajagopalan, S. / Liang, C. / Kaur, S. / Waddell, L. et al. | 2014
- 883
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G.P.222Stehlikova, K. / Skalova, D. / Hruba, Z. / Fajkusova, L. et al. | 2014
- 883
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G.P.221Florendo-Cumbermack, A. G. / Tripic, M. / Venance, S. L. et al. | 2014
- 883
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G.P.220Di Fruscio, G. / Savarese, M. / Garofalo, A. / Mutarelli, M. / Nigro, V. et al. | 2014
- 884
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G.P.223Scutifero, M. / Taglia, A. / D'Ambrosio, P. / Petillo, R. / Passamano, L. / Palladino, A. / Nigro, V. / Nigro, G. / Politano, L. et al. | 2014
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G.P.224Diniz, G. / Hazan, F. / Yildirim, H. T. / Unalp, A. / Polat, M. / Serdaroglu, G. / Ture, S. / Akhan, G. / Tukun, A. et al. | 2014
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G.P.225Diniz, G. / Yildirim, H. T. / Gokben, S. / Serdaroglu, G. / Hazan, F. / Yararbas, K. / Tukun, A. et al. | 2014
- 884
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G.P.226Diniz, G. / Tekgul, H. / Hazan, F. / Yararbas, K. / Tukun, A. et al. | 2014
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G.P.227Pozsgai, E. R. / Griffin, D. A. / Heller, K. N. / Mendell, J. R. / Rodino-Klapac, L. R. et al. | 2014
- 885
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G.P.230:Clinical and genetic features in Korean patients with CAPN3 mutationsPark, c. u. / Park, K. D. / Lee, J. H. / Shim, D. S. / Choi, Y. C. et al. | 2014
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G.P.228D'Ambrosio, P. / Picillo, E. / Petillo, R. / Taglia, A. / Torella, A. / Nigro, V. / Politano, L. et al. | 2014
- 885
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G.P.229Charton, K. / Sarparanta, J. / Vihola, A. / Suel, L. / Daniele, N. / Hackman, P. / Udd, B. / Richard, I. et al. | 2014
- 886
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G.P.233:Neuroblastoma in a patient with spinal muscular atrophy (SMA) Type I: Is it just a coincidence?Sag, E. / Sen, H. S. / Haliloglu, c. u. / Yalcin, B. / Kutluk, T. et al. | 2014
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G.P.232:Double trouble: A child with spinal muscular atrophy type III and Pompe diseaseHobbiebrunken, c. u. / Schulz-Schaeffer, W. / Podskarbi, T. / Mueller-Reible, C. R. / Klinge, L. / Goebel, H. H. / Wilichowski, E. et al. | 2014
- 886
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G.P.231:A novel splice-site mutation in SMN1 resulting in a very severe SMA1 phenotypeRonchi, c. u. / Previtali, S. / Magri, F. / Corti, S. / Comi, G. P. et al. | 2014
- 887
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G.P.234:A family with late-onset spinal muscular atrophy with remarkable phenotypic variability, influenced by SMN2 copy numberPark, c. u. / Kim, G. H. / Kim, D. S. / Shin, J. H. et al. | 2014
- 887
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G.P.236:Two siblings with SMARD1, one of them being in “double trouble”Rasmussen, c. u. / Karime, B. / Matthews, I. L. / Ørstavik, K. et al. | 2014
- 887
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G.P.235Trippe, H. / Boukidis, A. / Hauffa, B. / Konrad, K. / Schara, U. et al. | 2014
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G.P.237:Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patientsPeeters, K. / Litvinenko, I. / Chamova, T. / Asselbergh, B. / Almeida-Souza, L. / Geuens, T. / Ydens, E. / Zimon, M. / Irobi, J. / Vriendt, E. D. et al. | 2014
- 888
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G.P.238:Phenotypic spectrum of three patients affected by TRPV4 mutationsOrtez, c. u. / Fernandez, J. / Laso, E. L. / Nascimento, A. / Olivé, M. / Jou, C. / Mallebrera, C. J. / Baas, F. / Colomer, J. et al. | 2014
- 888
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G.P.239Medne, L. / Bonnemann, C. / Scherer, S. / Finkel, R. S. / Ortiz-Gonzalez, X. / Glanzman, A. / Estilow, T. / Moll, A. / Leshner, R. / Wang, Y. et al. | 2014
- 889
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G.P.242:A trial of hybrid assistive limb (HAL) for a spinal muscular atrophy (SMA) patientIwata, c. u. / Saito, T. / Nagayama, H. / Yamamoto, H. / Nishizono, H. / Shibuichi, K. / Inoue, K. / Fujimura, H. / Nakajima, T. et al. | 2014
- 889
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G.P.243:Orthosis usage and ambulation levels in different clinical types of SMASubasi, c. u. / Yildiz, T. I. / Bulut, N. / Alemdaroglu, I. / Karaduman, A. A. / Yilmaz, O. T. / Topaloglu, H. et al. | 2014
- 889
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G.P.240:Next Generation Sequencing reveals IGHMBP2 variants as a cause for distal hereditary motor neuronopathy in two childrenMajumdar, c. u. / Vijayakumar, K. / Merrison, A. / Buxton, C. / Burton-Jones, S. / Crosby, C. / Antoniadi, T. et al. | 2014
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G.P.241:Muscle histopathology in late-onset spinal muscular atrophies differs from c9orf72-related-ALSJokela, c. u. / Huovinen, S. / Palmio, J. / Penttilä, S. / Udd, B. et al. | 2014
- 890
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G.P.245:Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disordersScalco, c. u. / Quinlivan, R. / Martin, R. / Baruch, N. / Martin, M. / Navarra, C. / Martinuzzi, A. / Bruno, C. / Laforet, P. / Sperber, K. et al. | 2014
- 890
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G.P.244:The development and implementation of a Managed Clinical Neuromuscular Network in the Southwest of the United Kingdom. The first five yearsMajumdar, c. u. / Vijayakumar, K. / Merrison, A. / Househam, E. et al. | 2014
- 890
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G.P.246:Prevalence of neuromuscular disorders in the paediatric population in Yorkshire: Variation by ethnicityWoodcock, I. / Pysden, K. / Manning, S. / Taylor, L. K. / Childs, c. u. et al. | 2014
- 891
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G.P.247:International Clinical Outcome Study in Dysferlinopathy (COS): Results of screening questionnaires in UK patientsHarris, c. u. / Bettinson, K. / James, M. / Mayhew, A. / Eagle, M. / Bushby, K. et al. | 2014
- 891
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G.P.248:Clinical trial readiness of paediatric neuromuscular patients in IrelandFoley, c. u. / Coman, C. / Tobin, A. / Kehoe, N. / Shinners, B. / Timothy, A. / McGrath, M. / Goode, M. / Lynch, B. et al. | 2014
- 891
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G.P.249:Frequency of multisystem abnormalities among Czech patients with myotonic dystrophyParmova, c. u. / Vohanka, S. / Strenkova, J. et al. | 2014
- 892
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G.P.252Maggi, R. / Vola, B. / Cerletti, M. / Bonetti, P. et al. | 2014
- 892
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G.P.250:Czech national registries of hereditary neuromuscular disordersVohanka, c. u. / Parmova, O. / Mazanec, R. / Vondracek, P. / Mrazova, L. / Haberlova, J. / Brazdilova, M. / Strenkova, J. / Brabec, P. et al. | 2014
- 892
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G.P.251:The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measuresMagri, c. u. / Govoni, A. / Brusa, R. / Angelini, C. / D’Angelo, M. G. / Mongini, T. / Toscano, A. / Siciliano, G. / Tomelleri, G. / Mora, M. et al. | 2014
- 893
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G.P.255:Epidemiology and screening of Pompe disease in SwedenBalcin, c. u. / Lindberg, C. / Sundström, A. / Hult, M. / Engvall, M. / Solders, G. et al. | 2014
- 893
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G.P.253:The Belgian Neuromuscular Disease Registry, results of the 2012 dataRoy, c. u. / Van den Bergh, P. / Van Damme, P. / Van Casteren, V. et al. | 2014
- 893
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G.P.254:Epidemiology of limb-girdle muscular dystrophies in SwedenBalcin, c. u. / Lindberg, C. / Sundström, A. / Solders, G. et al. | 2014
- 893
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G.P.256:The German patient registry for inclusion body myositisSchreiber, c. u. / Krause, S. / Thiele, S. / Kiel, M. / Vorgerd, M. / Schmidt, J. / Walter, M. C. et al. | 2014
- 894
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G.P.257:Prevalence of Neuromuscular Disorders – A systematic reviewTheadom, A. / Rodrigues, c. u. / Ballala, S. / Bhattacharjee, R. / Higgins, C. / Jones, K. / Krishnamurthi, R. / Feigin, V. et al. | 2014
- 894
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G.P.259:Nationwide patient registry of GNE myopathy in JapanMori-Yoshimura, c. u. / Hayashi, Y. K. / Yonemoto, N. / Murata, M. / Takeda, S. / Nishino, I. / Kimura, E. et al. | 2014
- 894
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G.P.258:National registry of Japanese dystrophinopathy patients: RemudyTakeuchi, c. u. / Nakamura, H. / Mitsuhashi, S. / Mori-Yoshimura, M. / Hayashi, Y. K. / Shimizu, R. / Komaki, H. / Nishino, I. / Kawai, M. / Takeda, S. et al. | 2014
- 895
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G.P.260Lee, J. M. / Hwang, S. J. / Park, Y. E. / Shin, J. H. / Kim, D. S. et al. | 2014
- 895
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G.P.261:Whole exome sequencing in patients with congenital myopathiesZaharieva, c. u. / Colombo, I. / Sframeli, M. / Sigurðsson, J. H. / Feng, L. / Phadke, R. / Sewry, C. A. / Morgan, J. E. / Muntoni, F. et al. | 2014
- 895
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G.P.262:Selectivity patterns on lower limb skeletal muscle imaging in patients with nemaline myopathyOkubo, c. u. / Ishiyama, A. / Komaki, H. / Takeshita, E. / Saito, T. / Saito, Y. / Nakagawa, E. / Sugai, K. / Hayashi, Y. K. / Nishino, I. et al. | 2014
- 896
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G.P.264:Congenital myopathies with protein aggregates and inclusions: importance of extensive muscle biopsy analysis in the diagnostic workupMalfatti, c. u. / Monges, S. / Bohm, J. / Quijano-Roy, S. / Brochier, G. / Lubieniecki, F. / Behin, A. / Laforêt, P. / Stojkovic, T. / Viou, M. T. et al. | 2014
- 896
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G.P.265:Nebulin-related nemaline myopathy: Clinical and histopathological spectrum in Argentinean patientsMonges, c. u. / Lubieniecki, F. / Castro, F. / Mozzoni, J. / Leske, V. / Gravina, P. / Saccoliti, M. / Malfatti, E. / Bohm, J. / Laporte, J. et al. | 2014
- 896
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G.P.263:The role of rods in nemaline myopathy and the cause of muscle weaknessSztal, T. E. / Zhao, M. / Williams, C. / Oorschot, V. / Parslow, A. / Hall, T. E. / Costin, A. / Ramm, G. / Currie, P. D. / Laing, N. G. et al. | 2014
- 897
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G.P.268:Whole body muscular MRI in the NEB mutated nemaline myopathyDabaj, c. u. / Quijano-Roy, S. / Estournet, B. / Eymard, B. / Stojkovic, T. / Wallgren-Pettersson, C. / Carlier, P. / Andres, D. G. / Dore, B. / Malfatti, E. et al. | 2014
- 897
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G.P.267:Nebulin-associated myopathy: New genetic and pathologic presentationsPark, c. u. / Park, S. H. / Lee, J. M. / Shin, J. H. / Kang, B. R. / Lee, C. H. / Kim, D. S. et al. | 2014
- 897
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G.P.266:Large copy number variations in NEB are frequent in nemaline myopathy patientsKiiski, c. u. / Lehtokari, V. L. / Laari, L. / Wallgren-Pettersson, C. / Pelin, K. et al. | 2014
- 898
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G.P.272:Novel deletions in TPM3 define a hypercontractile phenotype with marked congenital muscle stiffness: Expanding the spectrum of TPM3 related diseaseDonkervoort, c. u. / Neu, M. / Kirschner, J. / Yang, M. L. / Marston, S. B. / Gibbons, M. A. / Hu, Y. / de Winter, J. M. / Ottenheijm, C. A. / Rutkowski, A. et al. | 2014
- 898
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G.P.270:A large genomic rearrangement affecting TPM3 causing severe nemaline myopathyLehtokari, c. u. / Kiiski, K. / Pelin, K. / Wallgren-Pettersson, C. et al. | 2014
- 898
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G.P.271:Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathiesMarttila, c. u. / Lehtokari, V. L. / Marston, S. B. / Nyman, T. A. / Barnerias, C. / Beggs, A. H. / Bertin, E. / Ceyhan-Birsoy, . / Cintas, P. / Gerard, M. et al. | 2014
- 898
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G.P.269:CAP-disease not-related to ACTA1, TPM2 or TPM3 genesGaribaldi, c. u. / Malfatti, E. / Brochier, G. / Cuisset, J. M. / Maurage, C. A. / Monnier, N. / Eymard, B. / Laporte, J. / Fardeau, M. / Romero, N. B. et al. | 2014
- 899
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G.P.273:Nemaline myopathy 8 and KLHL40 in diseased and normal skeletal muscleRavenscroft, c. u. / Todd, E. J. / Yau, K. S. / Sewry, C. A. / McLean, C. A. / Ryan, M. M. / Allcock, R. J. / Laing, N. G. et al. | 2014
- 899
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G.P.274:Cold shock domain protein A – A novel nemaline myopathy-causing gene?Laitila, c. u. / Lehtokari, V. L. / Kiiski, K. / Wallgren-Pettersson, C. / Pelin, K. et al. | 2014
- 899
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G.P.275Lubieniecki, F. / Monges, S. / Mozzoni, J. / Moresco, A. / Aguerre, V. / de Castro, M. F. / Pozzo, N. / Foncuberta, E. / Seraphin, C. B. / Romero, N. B. et al. | 2014
- 900
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G.P.278:Facial dysmorphism in FKRP limb-girdle muscular dystrophy: About two casesMagot, A. / Mercier, S. / Seraphin, C. B. / Mussini, J. M. / Peron, Y. et al. | 2014
- 900
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G.P.277Lindal, S. / Stensland, E. / Rasmussen, M. / Jonsrud, C. / Brox, V. / Maisoon, A. / Nilssen, O. et al. | 2014
- 900
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G.P.276Crockett, C. D. / Stephan, C. M. / Mockler, S. R. / Laubscher, K. M. / Zimmerman, B. M. / Mathews, K. D. et al. | 2014
- 901
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G.P.280:Preserved expression of truncated telethonin in a patient with LGMD2GStraub, V. / Davies, N. P. / Barresi, c. u. / Morris, C. / Pickthall, C. / Bushby, K. et al. | 2014
- 901
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G.P.279:Efficient AAV-mediated transfer of FKRP in a new mouse model of Limb Girdle Muscular Dystrophy 2IGicquel, E. / Richard, c. u. et al. | 2014
- 901
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G.P.281:Detection of homozygous and compound heterozygous deletions in TRIM32 in LGMD patients analyzed by a combined strategy of CGH-array and Massive Parallel SequencingNectoux, J. / de Cid, R. / Baulande, S. / Leturcq, F. / Urtizberea, J. A. / Penisson-Besnier, I. / Nadaj Pakleza, A. / Roudaut, C. / Criqui, A. / Orhant, L. et al. | 2014
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G.P.284:Dysferlinopathy caused by protein misfolding: The novel murine animal model Dysf-MMex38Heidt, c. u. / Bader, M. / Spuler, S. / Schoewel, V. et al. | 2014
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G.P.282:A novel mutation in DNAJB6 causes a more severe phenotype and greater loss of anti-aggregation functionJonson, c. u. / Palmio, J. / Sarparanta, J. / Luque, H. / Udd, B. et al. | 2014
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G.P.283:A novel mutation in DNAJB6 gene causes a very severe early-onset LGMD1D diseasePalmio, c. u. / Evilä, A. / Jonson, P. H. / Auranen, M. / Kiuru-Enari, S. / Pihko, H. / Hackman, P. / Udd, B. et al. | 2014
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G.P.286:Validation of in silico variation effect prediction tools in missense mutations of dysferlinopathyPark, c. u. / Hwang, S. J. / Kim, D. S. / Shin, J. H. et al. | 2014
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G.P.288:Dysferlinopathy in Egypt: Clinical, Pathological and Genetic characteristicsFahmy, c. u. / Abd Elhady, A. / Abd El-Naser, A. / Ashour, S. / Etribi, A. / Nonaka, I. / Minami, N. / Suzuki, N. / Takahashi, T. / Aoki, M. et al. | 2014
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G.P.285:Membrane and phospholipid binding properties of dysferlinHofhuis, c. u. / Thoms, S. / Klinge, L. et al. | 2014
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G.P.287:Genetic and epigenetic determinants of low dysferlin expression in monocytesGallardo, c. u. / Ankala, A. / Nuñez-Alvarez, y. / Hedge, M. / Diaz-Manera, J. / Luna, N. D. / Pastoret, A. / Suelves, M. / Illa, I. et al. | 2014
- 904
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G.P.289:Novel ANO5 KO mouse provides new insight into LGMD2L pathogenesisGriffin, c. u. / Pozsgai, E. / Johnson, R. / Grose, W. / Heller, K. / Mendell, J. R. / Sahenk, Z. / Rodino-Klapac, L. R. et al. | 2014
- 904
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T.P.35Ramsey, D. / Scoto, M. / Mayhew, A. / Main, M. / Wilson, I. / Mazzone, E. / Montes, J. / Bushby, K. / Finkel, R. / Mercuri, E. et al. | 2014
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T.P.36Mazzone, E. / Sivo, S. / Pane, M. / Palermo, C. / D'Amico, A. / Fanelli, L. / Sanctis, R. D. / Bertini, E. / Mercuri, E. et al. | 2014
- 905
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T.P.37:Old measures and new analysis in non ambulant SMA patientsMazzone, E. S. / Mayhew, A. / Main, M. / Montes, J. / Ramsey, D. / Scoto, M. / Pane, M. / Bushby, K. / Finkel, R. / Muntoni, F. et al. | 2014
- 905
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T.P.38:Initial validity and test–retest reliability of ACTIVE-seated (Ability Captured Through Interactive Video Evaluation-seated) as an upper extremity outcome in Duchenne muscular dystrophyLowes, c. u. / Alfano, L. N. / Berry, K. M. / Yin, H. / Dvorchik, I. / Flanigan, K. M. / Mendell, J. R. et al. | 2014
- 905
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T.P.39BNMDR, S. C. / Batcho, C. S. / Van den Bergh, P. Y. / Van Damme, P. / Roy, A. / Penta, M. et al. | 2014
- 906
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T.P.42:Comparison of three scales of motor function in two subtypes of patients with congenital muscular dystrophyMeilleur, c. u. / Jain, M. S. / Hynan, L. S. / Shieh, C. Y. / Kim, E. / Waite, M. / McGuire, M. / Fiorini, C. / Glanzman, A. / Main, M. et al. | 2014
- 906
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T.P.40:Clinical rating scale for head control: A pilot study for reliability and validity of the Turkish versionYilmaz, O. / Alemdaroglu, c. u. / Subasi, S. / Necati, E. / Karaduman, A. A. / Topaloglu, H. et al. | 2014
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T.P.41:Upper limb strength and function in patients with glycogen storage disease type 3Decostre, c. u. / Nadaj-Pakleza, A. / Ollivier, G. / Canal, A. / Laforêt, P. / Hogrel, J. Y. et al. | 2014
- 907
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T.P.44:Influence of a two-year steroid treatment on body composition as measured by Dual X-ray Absorptiometry in boys with Duchenne Muscular DystrophyVuillerot, c. u. / Braillon, P. / Fontaine-Carbonnel, S. / Rippert, P. / Andre, E. / Iwaz, J. / Poirot, I. / Berard, C. et al. | 2014
- 907
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T.P.45:A new index of muscle development and disease progression for the pediatric patients with Duchenne muscular dystrophy, using bioelectrical impedance analysis: An observation studyUchiyama, T. / Hattori, A. / Sato, T. / Murakami, T. / Ishigaki, K. / Nakayama, T. / Kuru, c. u. et al. | 2014
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T.P.43Alemdaroglu, I. / Kaya, P. / Yilmaz, O. / Karaduman, A. A. / Topaloglu, H. et al. | 2014
- 908
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T.P.48Dastgir, J. / Vuillerot, C. / Nguyen, D. / Yang, K. / Auh, S. / Donkervoort, S. / Meilleur, K. / Leach, M. / Jain, M. / Rutkowski, A. et al. | 2014
- 908
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T.P.47:A new index of muscle development for healthy children using bioelectrical impedance analysisUchiyama, c. u. / Nakayama, T. / Hattori, A. / Kuru, S. et al. | 2014
- 908
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T.P.46:A new index of muscle development and disease progression for the pediatric patients with Fukuyama congenital muscular dystrophy, using bioelectrical impedance analysis: An observation studyMurakami, c. u. / Uchiyama, T. / Sato, T. / Ishigaki, K. / Nakayama, T. / Kuru, S. et al. | 2014
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G.P.293:Peripheral nerve conduction abnormalities in amyotrophic lateral sclerosisMakino, c. u. / Watanabe, C. / Kumano, R. / Higaki, M. / Toji, H. et al. | 2014
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G.P.290:Prefrontal involvement related to cognitive impairment in progressive muscular atrophyRaaphorst, c. u. / van Tol, M. J. / de Groot, P. F. / Altena, E. / van der Werf, Y. D. / Majoie, C. B. / van der Kooi, A. J. / van den Berg, L. H. / Schmand, B. A. / de Visser, M. et al. | 2014
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G.P.291Watanabe, C. / Makino, T. / Kumano, R. / Higaki, M. / Toji, H. et al. | 2014
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G.P.292:Nerve ultrasonography and neurophysiological study in amyotrophic lateral sclerosis to assess distal motor dysfunction of median nerveKumano, c. u. / Makino, T. / Higaki, M. / Toji, H. / Watanabe, C. et al. | 2014
- 910
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G.P.294:Charcot-Marie-Tooth disease type 1A presenting as muscle hypertrophy and muscle crampsBrusse, c. u. / Perumpillichira, J. C. et al. | 2014
- 910
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G.P.296Yum, S. W. / Medne, L. / Estilow, T. / Glanzman, A. / DiVito, D. / Bonnemann, C. G. et al. | 2014
- 910
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G.P.295:Relationship between ankle instability and disability in children with Charcot-Marie-Tooth diseaseSman, c. u. / Mandarakas, M. / Menezes, M. / Burns, J. et al. | 2014