Adult onset distal myopathy secondary to nebulin gene mutations (Unbekannt)
- Neue Suche nach: Juntas Morales, R.
- Neue Suche nach: Lacourt, D.
- Neue Suche nach: Theze, C.
- Neue Suche nach: Pegeot, H.
- Neue Suche nach: Perrin, A.
- Neue Suche nach: Yauy, K.
- Neue Suche nach: Maues de Paula, A.
- Neue Suche nach: Figarella, D.
- Neue Suche nach: Leboucq, N.
- Neue Suche nach: Cossêe, M.
- Neue Suche nach: Juntas Morales, R.
- Neue Suche nach: Lacourt, D.
- Neue Suche nach: Theze, C.
- Neue Suche nach: Pegeot, H.
- Neue Suche nach: Perrin, A.
- Neue Suche nach: Yauy, K.
- Neue Suche nach: Maues de Paula, A.
- Neue Suche nach: Figarella, D.
- Neue Suche nach: Leboucq, N.
- Neue Suche nach: Cossêe, M.
In:
NEUROMUSCULAR DISORDERS
;
27
, 2
;
S151
;
2017
-
ISSN:
- Aufsatz (Zeitschrift) / Print
-
Titel:Adult onset distal myopathy secondary to nebulin gene mutations
-
Beteiligte:Juntas Morales, R. ( Autor:in ) / Lacourt, D. ( Autor:in ) / Theze, C. ( Autor:in ) / Pegeot, H. ( Autor:in ) / Perrin, A. ( Autor:in ) / Yauy, K. ( Autor:in ) / Maues de Paula, A. ( Autor:in ) / Figarella, D. ( Autor:in ) / Leboucq, N. ( Autor:in ) / Cossêe, M. ( Autor:in )
-
Erschienen in:NEUROMUSCULAR DISORDERS ; 27, 2 ; S151
-
Verlag:
- Neue Suche nach: Elsevier Science B.V., Amsterdam.
-
Erscheinungsdatum:01.01.2017
-
Format / Umfang:S151
-
ISSN:
-
Medientyp:Aufsatz (Zeitschrift)
-
Format:Print
-
Sprache:Unbekannt
- Neue Suche nach: 616.83
- Weitere Informationen zu Dewey Decimal Classification
-
Klassifikation:
DDC: 616.83 -
Datenquelle:
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- S188
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Molecular therapy in a novel translational large animal model for Duchenne muscular dystrophyKrause, S. / Reichert, S. / Donandt, T. / Kalbe, C. / Schmuck, M. / Klymiuk, N. / Kessler, B. / Blutke, A. / Wolf, E. / Schoser, B. et al. | 2017
- S190
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The contractile phenotype of a novel dystrophin-negative mouse strain with enhanced voluntary exercise capabilityWingate, C. / Pinniger, G. / Arthur, P. / Bakker, A. / Nowak, K. et al. | 2017
- S191
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Taurine: an anti-inflammatory and antioxidant with strong potential benefits for Duchenne muscular dystrophyArthur, P. / Terrill, J. / Grounds, M. et al. | 2017
- S192
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Immunoglobulin therapy modulates the severe inflammatory progression of neuromuscular disordersGhirotto, B. / Loures, F. Vieira / Bueno, H. / Cangussu, E. / Goulart, E. / Coatti, G. / Caldini, E. / Condino-Neto, A. / Zatz, M. et al. | 2017
- S193
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Copy number variation analysis increases the diagnostic yield of NGS studies in muscle disease patientsValipakka, S. / Savarese, M. / Johari, M. / Sagath, L. / Arumilli, M. / Pena, A. Saenz / de Munain Arregui, A. / Esteban, A. Cobo / Pelin, K. / Udd, B. et al. | 2017
- S194
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Whole genome sequencing in neuromuscular diseases: the UNIFE experience within the neuromics projectSelvatici, R. / Neri, M. / Scotton, C. / Falzarano, M. / Rossi, R. / Armaroli, A. / Gualandi, F. / Fini, S. / Ferlini, A. et al. | 2017
- S196
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Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndromeTopf, A. / Azuma, Y. / Gorokhova, S. / O'Connor, E. / Porter, A. / Harris, E. / Evangelista, T. / Cox, D. / Lorenzoni, P. / McMacken, G. et al. | 2017
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MNDcap gene panel as a diagnostic tool in motor neuron disordersPenttilä, S. / Arumilli, M. / Hackman, P. / Sainio, M. / Ylikallio, E. / Tyynismaa, H. / Udd, B. et al. | 2017
- S198
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Translating DUX4-targeted RNAi therapy for Facioscapulohumeral muscular dystrophyWallace, L. / Griffin, D. / Pyne, N. / Domire, J. / Rodino-Klapac, L. / Harper, S. et al. | 2017
- S199
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Xenografts of human myogenic cells into mice form pure human muscle: a new model for FSHDBloch, R. / Mueller, A. / Llach, A. / O'Neill, A. / Jones, T. / Sakellariou, P. / Stadller, G. / Wright, W. / Jones, P. et al. | 2017
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DUX4 signature in STIR+ Facioscapulohumeral muscular dystrophy musclesTasca, G. / Pescatori, M. / Monforte, M. / Garofalo, A. / Carissimo, A. / Mutarelli, M. / Nigro, V. / Ricci, E. et al. | 2017
- S202
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Nuclear PABPN1 aggregates in OPMD: correlation study and therapyRoth, F. / Jarmin, S. / Oliver, A. / Nguyen, N. / Chappell, A. / Harish, P. / Cordova, G. / Cappellari, O. / Lainé, J. / Guily, J. Lacau St et al. | 2017
- S203
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The EUROMAC registry for rare glycogen storage diseases: preliminary reportScalco, R. / Quinlivan, R. / Lucia, A. / Santalla, A. / Martinuzzi, A. / Toscano, A. / Musumeci, O. / Milan, B. San / Durmus, H. / Voermans, N. et al. | 2017
- S204
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McArdle Disease: Clinical, biochemical and molecular genetic analysis of 58 patientsJoshi, P. / Zierz, S. et al. | 2017
- S205
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Autophagy impairment in muscle biopsies from debranching enzyme deficiency (GSDIII) patients: pinpointing novel therapeutic perspectivesMalfatti, E. / Goillot, E. / Streichenberger, N. / Leonard-Louis, S. / Brochier, G. / Madelaine, A. / Labasse, C. / Nadaj-Pakleza, A. / Sacconi, S. / Schoser, B. et al. | 2017
- S206
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Biallelic mutation in FDXIL leads to a complex phenotype: optic atrophy, reversible leukoencephalopathy, metabolic myopathy and axonal polyneuropathyGurgel-Giannetti, J. / Lynch, D. / Paiva, A. / Yamamoto, G. / Lucato, L. / Amorim, S. / Freua, F. / Giannetti, A. / Ripa, B. / Monti, F. et al. | 2017
- S207
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Safety and efficacy findings in the first-in-human trial (FIH) of the oral splice modulator branaplam in type 1 spinal muscular atrophy (SMA): interim resultsCharnas, L. / Voltz, E. / Pfister, C. / Peters, T. / Hartmann, A. / Berghs-Clairmont, C. / Praestgaard, J. / de Raspide, M. / Deconinck, N. / Born, A. et al. | 2017
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AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: patients treated early with the proposed therapeutic dose were able to sit unassisted at a younger ageLowes, L. / Al-Zaidy, S. / Shell, R. / Arnold, W. / Rodino-Klapac, L. / Prior, T. / Alfano, L. / Berry, K. / Church, K. / Kissel, J. et al. | 2017
- S209
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Olesoxime in patients with type 2 or non-ambulatory type 3 Spinal muscular atrophy: a placebo-controlled phase 2 trial including a long-term, open-label follow-up studyMuntoni, F. / Buchbjerg, J. / Bertini, E. / Dessaud, E. / Mercuri, E. / Kirschner, J. / Reid, C. / Lusakowska, A. / Comi, G. / Cuisset, J. et al. | 2017
- S210
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Safety and efficacy of nusinersen in infants/children with spinal muscular atrophy (SMA): part 1 of the phase 2 EMBRACE studyAcsadi, G. / Shieh, P. / Crawford, T. / Richardson, R. / Natarajan, N. / Castro, D. / Gheuens, S. / Gambino, G. / Sun, P. / Reyna, S. et al. | 2017
- S211
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First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1Gargaun, E. / Aragon-Gawinska, K. / Seferian, A. / Gidaro, T. / Gilabert, S. / Lilien, C. / Colcer, A. / Boukouti, K. / Vuillerot, C. / Cances, C. et al. | 2017
- S214
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Establishment of primary myoblast cell culture from cryoprotected skeletal muscle biopsiesBalci-Hayta, B. / Bekircan-Kurt, C. / Aksu, E. / Dayangac-Erden, D. / Tan, E. / Erdem-Ozdamar, S. et al. | 2017
- S215
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Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkersGidaro, T. / Servais, L. / Previtali, S. / Zambon, A. / Pitchforth, J. / Maresh, K. / Diaz, J. / Laveille, C. / Gray, J. / Porte-Thomé, F. et al. | 2017
- S216
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Injection site reactions as a consequence of long-term subcutaneous administration of drisapersen in Duchenne muscular dystrophyNiks, E. / Van Doorn, R. / Domingos, J. / Guglieri, M. / Pane, M. / Mauro, A. / Virgili, A. / Morren, M. / Martinez, A. / Nguyen, A. et al. | 2017
- S217
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Drug development of vamorolone for Duchenne muscular dystrophyClemens, P. / Guglieri, M. / Morgenroth, L. / Damsker, J. / Smith, A. / Hathout, Y. / Cnaan, A. / Smith, E. / Mah, J. / Byrne, B. et al. | 2017
- S219
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Repurposing tamoxifen for severe myopathies: from preclinical evaluation in animal models to clinical trials in patientsDorchies, O. / Gayi, E. / Ismail, H. / Neff, L. / Cowling, B. / Laporte, J. / Dor, T. / Fischer, D. / Ruegg, U. / Scapozza, L. et al. | 2017
- S220
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Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking in vitro and in vivoWang, H. / Salter, S. / Refai, O. / Hardy, H. / Sejersen, T. / Wright, J. / Zimmerman, H. / Weis, J. / Schara, U. / Russell, M. et al. | 2017
- S221
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GFPT1-related limb-girdle myasthenia: First case reported in ArgentinaRugiero, M. / Gonorazky, H. / Bettini, M. / Saccoliti, M. / Lornage, X. / Böhm, J. / Laporte, J. / Romero, N. / Taratuto, A. et al. | 2017
- S223
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Establishing a relationship between EQ-5D and QMG in patients with Lambert-Eaton myasthenic syndromeJarrett, J. / Mantegazza, R. / Sieb, J. / Datt, J. et al. | 2017
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Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3Hogrel, J. / Annoussamy, M. / Chabanon, A. / Daron, A. / Péréon, Y. / Cancès, C. / Vuillerot, C. / Goemans, N. / Cuisset, J. / Laugel, V. et al. | 2017
- S226
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Validity of the 6 minute walking test in myotonic dystrophy type 1 in a large scale cross-sectional studyMoat, D. / Jimenez-Moreno, C. / Mayhew, A. / Massey, C. / Nikolenko, N. / Turner, C. / Lochmüller, H. et al. | 2017
- S227
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Is grip strength compared to lower extremity measurements sufficient for capturing changes in muscle strength in chronic inflammatory demyelinating polyneuropathy?Knak, K. / Andersen, L. / Markvardsen, L. et al. | 2017
- S228
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Clinics, histopathology and whole-body-MRI pattern in CACNA1S/DHPR myopathyIvanovic-Barbeito, Y. / Dabaj, I. / Malfatti, E. / Bénezit, A. / Gonorazky, H. / Taratuto, A. / Laporte, J. / Eymard, B. / Romero, N. / Pakleza, N. et al. | 2017
- S229
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Calreticulin mutation in a case of myopathySampaolo, S. / de Lucia, D. / Lombardi, l. / Casertano, S. / Rossi, F. / Fratta, M. / Di Francia, R. / Di Iorio, G. et al. | 2017
- S230
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Muscle growth by activin type II receptor blocking ameliorates weakness in GNE myopathy miceMiyakawa, M. / Yonekawa, T. / Malicdan, M. / Lach-Trifilieff, E. / Nonaka, I. / Nishino, I. / Noguchi, S. et al. | 2017
- S231
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Accelerating the translation of natural history into more effective clinical trial design through multi-stakeholder collaborationMercuri, E. / Goemans, N. / Muntoni, F. / Manzur, A. / Wong, B. / Signorovitch, J. / Ward, S. et al. | 2017
- S232
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Outcome measures for Duchenne muscular dystrophy from ambulant to non-ambulant patients: implications for clinical trialsDomingos, J. / Eagle, M. / Moraux, A. / Butler, J. / Decostre, V. / Ridout, D. / Mayhew, A. / Selby, V. / Guglieri, M. / Van der Holst, M. et al. | 2017
- S233
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Activities of daily living detection using home activity monitoring device in Duchenne muscular dystrophy patientsMoraux, A. / Beaufils, B. / Grelet, M. / Seferian, A. / Gasnier, E. / Gidaro, T. / Dorveaux, E. / Vissiere, D. / Servais, L. et al. | 2017
- S234
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Exploring physical activity levels and sleep efficiency relationships among boys with Duchenne muscular dystrophy (DMD)Bendixen, R. / Anning, J. / Kelleher, A. / Yuhas, M. / Feltman, M. / Lorenzin, D. / Morizono, H. / Hoffman, E. et al. | 2017
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Collection of high quality muscle biopsies for use in DMD clinical trial analysis; process development and implementationTinsley, J. / Frank, D. / Dworzak, J. / Faelan, C. / Patterson-Kane, J. / Wolff, H. / Muntoni, F. et al. | 2017
- S237
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Do titin developmental isoforms contribute to the pathogenesis of congenital titinopathy?Oates, E. / Yau, K. / Jones, K. / Smith, J. / Cummings, B. / Farrar, M. / Cooper, S. / Lek, M. / Hoffman, E. / Straub, V. et al. | 2017
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Muscle hyperthrophy with RYR1 mutationChrestian, N. / Lace, B. / Gould, P. / Dionne, A. et al. | 2017
- S239
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Establishment of an international database of Titin mutations and their phenotypes – a follow upHackman, P. / Savarese, M. / Bönneman, C. / Ferreiro, A. / Beggs, A. / Gautel, M. / Davis, M. / Evangelista, T. / Glumac, J. Nikodinovic / Laporte, J. et al. | 2017
- S240
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Motor performance and disease progression in RYR1-RMWitherspoon, J. / Vasavada, R. / Waite, M. / Chrismer, I. / Jain, M. / Meilleur, K. et al. | 2017
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Drop-out in longitudinal natural history studies in neuromuscular diseasesAnnoussamy, M. / Ho, D. / Chê, V. / Phelep, A. / Servais, L. et al. | 2017
- S242
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Walking with weakness: a snapshot of gait in a paediatric neuromuscular clinicCarroll, K. / de Valle, K. / Ryan, M. / Kornberg, A. / Kennedy, R. et al. | 2017
- S243
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Epidemiological population-based study of hereditary myopathies in a southern European regionPagola, I. / Vicente, E. / Torne, L. / Ardanaz, E. / Fernandez-Torron, R. / Ramos-Arroyo, M. / Jerico, I. et al. | 2017
- S245
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Gene therapy for oculopharyngeal muscular dystrophyMalerba, A. / Klein, P. / Bachtarzi, H. / Jarmin, S. / Cordova, G. / Ferry, A. / Strings, V. / Espinoza, M. Polay / Mamchaoui, K. / Blumen, S. et al. | 2017
- S246
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Tamoxifen increases survival, improves motor function and reduces levels of BIN1 and DNM2 in a mouse model of X-linked centronuclear (myotubular) myopathyGayi, E. / Ismail, H. / Cowling, B. / Neff, L. / Laporte, J. / Scapozza, L. / Dorchies, O. et al. | 2017
- S247
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Prion-like protein aggregation of desmin myofibrillar myopathiesWeihl, C. / Bieschke, J. et al. | 2017
- S250
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Author Index| 2017
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Dystrophin Dp427 is lost due to multiple DMD intron retentions in rhabdomyosarcoma CRL-2061 cellsNiba, E. / Yamanaka, R. / Qawee, M. Abdul / Awano, H. / Matsumoto, M. / Nishio, H. / Matsuo, M. et al. | 2017
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Respiratory insight to muscular dystrophy and relation in to clinical trialsFauroux, B. et al. | 2017
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Title| 2017
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Clinical orphan patient pool methodology estimates current patient pool in centronuclear myopathyVandersmissen, I. / Vander Stichele, G. / Biancalana, V. / Thielemans, L. et al. | 2017
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Severe X-linked myotubular myopathy with unexpected inheritance from the grandfather and identification of necklace fibers in an asymptomatic maleHedberg-Oldfors, C. / Visuttijai, K. / Topa, A. / Tulinius, M. / Oldfors, A. et al. | 2017
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Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian familyToscano, A. / Emmanuele, V. / Savarese, M. / Musumeci, O. / Torella, A. / Conca, E. / Moggio, M. / Nigro, V. / Rodolico, C. et al. | 2017
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Dystrophin Dp71 is expressed in skeletal muscleKawaguchi, T. / Niba, E. / Rani, A. / Yoshida, S. / Sakakibara, S. / Maeda, N. / Sato, O. / Matsuo, M. et al. | 2017
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Proteomic identification of novel brain and serum biomarkers linked to the pathophysiology of Duchenne muscular dystrophyMurphy, S. / Zweyer, M. / Dowling, P. / Henry, M. / Meleady, P. / Swandulla, D. / Ohlendieck, K. et al. | 2017
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Living with late-onset Pompe disease: the patient and clinician point of viewPatel, N. / Sathe, S. / Dietze, D. / Viereck, C. / Barth, J. / Sitaraman, S. et al. | 2017
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First case report of Nivolumab-induced dermatomyositisBourgeois Vionnet, J. / Joubert, B. / Bernard, E. / Fabien, N. / Sia, M. / Pante, V. / Honnorat, J. / Streichenberger, N. et al. | 2017
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Genotype-phenotype correlation analysis in GNE myopathyPogoryelova, O. / Cammish, P. / Mansbach, H. / Lochmüller, H. et al. | 2017
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Examining the relationship between Dixon quantitative MRI and physiotherapy functional outcome measures in dysferlinopathyFernandez Torron, R. / James, M. / Smith, F. / Azzabou, N. / Wilson, I. / Reyngoudt, H. / Mayhew, A. / Blamire, A. / Carlier, P. / Hilsden, H. et al. | 2017
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Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2Bayram, A. / Stumpfe, K. / Wang, H. / Pergande, M. / Per, H. / Çırak, S. et al. | 2017
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Broad clinical spectrum observed in patients with scapuloperoneal spinal muscular atrophy (SPSMA) caused by an c.806G > A (p. Arg269His) mutation in the TRPV4 geneJędrzejowska, M. / Dębek, E. / Halat, P. / Kostera-Pruszczyk, A. / Jezela-Stanek, A. / Ciara, E. / Rydzanicz, M. / Gasperowicz, P. / Gos, M. et al. | 2017
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Phenotypic heterogeneity in patients with mutations in the IGHMBP2 geneGomez-Garcia de la Banda, M. / Felipe-Rucian, A. / Gomez, D. / Gratacos, M. / Sanchez-Montañez, A. / Gran, F. / Bernal, S. / Tizzano, E. / Gamez, J. / Munell, F. et al. | 2017
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Adolescence with Duchenne and Becker muscular dystrophy: a cardiac magnetic resonance comparison studyJohnston, P. / Hor, K. / Cripe, L. et al. | 2017
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A case of epidermolysis bullosa simplex and muscular dystrophy with myasthenic symptoms caused by two novel PLEC mutationsLee, J. / Shin, H. / Choi, Y. et al. | 2017
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Complications of advanced Fukuyama congenital muscular dystrophy from a nationwide registryIshigaki, K. / Ihara, C. / Sato, T. / Shichiji, M. / Murakami, T. / Ishiguro, K. / Mori-Yoshimura, M. / Kaiya, H. / Osawa, M. / Nagata, S. et al. | 2017
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The relation of respiratory and upper extremity functions in early stage of Duchenne muscular dystrophy: a pilot studyBulut, N. / Aydın, G. / Karaduman, A. / Alemdaroğlu, I. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
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The blurred scenario of the new Calcium-related myopathies: clinical, radiological and molecular characterization of CASQ1, STIM1 and ORAI1 myopathies diagnosed in Padova neuromuscular centerSemplicini, C. / Bertolin, C. / Pantic, B. / Bello, L. / Vianello, S. / Catapano, F. / Colombo, I. / Moggio, M. / Sorarù, G. / Cenacchi, G. et al. | 2017
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The association between muscle weakness and gait deviations in children with Duchenne muscular dystrophyGoudriaan, M. / Goemans, N. / Van den Hauwe, M. / Desloovere, K. et al. | 2017
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Sh3kbp1 involvement during skeletal muscle fibers formation: a new candidate for centronuclear myopathiesGuiraud, A. / Couturier, N. / Buchman, V. / Durieux, A. / Arnould, D. / Christin, E. / Janczarski, S. / Bitoun, M. / Gache, V. et al. | 2017
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ActiMyo home monitoring in adult patients with limb girdle muscular dystrophy type 2B and facioscapulohumeral muscular dystrophy in study ATYR 1940-C-004Gidaro, T. / Moraux, A. / Grelet, M. / Gasnier, E. / Villeret, M. / Annoussamy, M. / Vissing, J. / Attarian, S. / Mozaffar, T. / Iyadurai, S. et al. | 2017
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Consistency of efficacy of Idebenone in respiratory decline in Duchenne muscular dystrophy (DMD): comparison of analysis methodsMeier, T. / Leinonen, M. / Buyse, G. et al. | 2017
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Infants and children with SMA treated with nusinersen in clinical trials: experience of risk for respiratory or other events with repeat anesthesia/sedation for intrathecal administrationFinkel, R. / Mercuri, E. / Chiriboga, C. / Kuntz, N. / Richman, S. / Bhan, I. / Hughes, S. / Foster, R. / Farwell, W. / Gheuens, S. et al. | 2017
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Efficacy and safety of nusinersen in children with later-onset spinal muscular atrophy (SMA): end of study results from the phase 3 CHERISH studyMercuri, E. / Finkel, R. / Kirschner, J. / Chiriboga, C. / Kuntz, N. / Sun, P. / Gheuens, S. / Bennett, C. / Schneider, E. / Farwell, W. et al. | 2017
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Expanding importance of HMERF titinopathy: new mutations and clinical aspectsPalmio, J. / Leonard, S. / Sacconi, S. / Savarese, M. / Semmler, A. / Bach, J. / Kress, W. / Mozaffar, T. / Lai, T. / Stojkovic, T. et al. | 2017
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Quantitative muscle ultrasound in two canine models of human myopathiesBarthélémy, I. / Piperno, O. / Cauchois, X. / Punzón, I. / Blot, S. et al. | 2017
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Specific strength is reduced in facioscapulohumeral dystrophy muscles. An MRI-based musculoskeletal analysisHeskamp, L. / Marra, M. / Mul, K. / van Engelen, B. / Verdonschot, N. / Heerschap, A. et al. | 2017
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Nintedanib as a new therapeutic agent for Duchenne muscular dystrophy: preclinical in vitro and in vivo studiesPiñol, P. / Fernández-Simón, E. / Suárez, X. / de Luna, N. / Molins, A. / de Oliva, N. / Martínez, A. / Escudero, L. / Sánchez, D. / Navarro, X. et al. | 2017
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Highly variable ultrastructural findings in KBTBD13-nemaline myopathy (NEM6)Malfatti, E. / Voermans, N. / Kusters, B. / De, J. / Brochier, G. / Madelaine, A. / Lammens, M. / Van, B. / Ottenheijm, C. / Romero, N. et al. | 2017
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Altered actin affinity – a possible disease-causing mechanism in NEB-related nemaline myopathyLehtonen, J. / Laitila, J. / Lehtokari, V. / Grönholm, M. / Wallgren-Pettersson, C. / Pelin, K. et al. | 2017
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Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003)Walker, G. / Butterfield, R. / Mathews, K. / Servais, L. / Day, J. / Gidaro, T. / Shukla, S. / Maggi, L. et al. | 2017
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A novel copy number variation detection array for the diagnostics of neuromuscular disordersSagath, L. / Lehtokari, V. / Wallgren-Pettersson, C. / Pelin, K. / Kiiski, K. et al. | 2017
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A case of childhood onset of treatable sensory neuronopathy caused by mutations in riboflavin transporter RFVT2 presenting as pure sensory ataxia with excellent response to riboflavin – a five year follow upKarachunski, P. / Dalton, J. / Molero-Ramirez, H. / Grames, M. et al. | 2017
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Post-receptor abnormalities contribute to peripheral insulin resistance in myotonic dystrophy type 1 and type 2Renna, L. / Bosé, F. / Fossati, B. / Cavalli, M. / Meola, G. / Cardani, R. et al. | 2017
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Functional fatigue in a sample of the UK myasthenic populationSelby, V. / Ramdharry, G. / Hogrel, J. / Milev, E. / Hanna, M. / Muntoni, F. et al. | 2017
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Vacuolar necklace muscle fibers – a new variant?Rinnenthal, J. / Dittmayer, C. / Irlbacher, K. / Hahn, K. / Wacker, I. / Stenzel, W. / Goebel, H. et al. | 2017
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A multicenter, retrospective medical record review of patients with X-Linked Myotubular myopathy (XLMTM): the RECENSUS studyBeggs, A. / Byrne, B. / de Chastonay, S. / Haselkorn, T. / Hughes, I. / James, E. / Kuntz, N. / Simon, J. / Swanson, L. / Yang, M. et al. | 2017
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The Brody disease cohort study: clarification of the phenotypeMolenaar, J. / Verhoeven, J. / Voermans, N. / Mathieu, J. / Vattemi, G. / Franques, J. / Kuntzer, T. / Guyant-Marechal, L. / Vicart, S. / Behin, A. et al. | 2017
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Monitoring physical activity using a wearable device in Pompe diseaseHamed, A. / Curran, C. / DasMahapatra, P. et al. | 2017
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Anti-mitochondrial antibodies are not a hallmark for severity in inflammatory myopathiesMauhin, W. / Mariampillai, K. / Allenbach, Y. / Musset, L. / Charuel, J. / Benveniste, O. et al. | 2017
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A phase 3 randomized, double blind, placebo-controlled study to evaluate the efficacy and safety of sialic acid extended-release tablets in patients with GNE myopathy (GNEM)Lochmüller, H. / Behin, A. / Caraco, Y. / Lau, H. / Mirabella, M. / Tournev, I. / Tarnopolsky, M. / Pogoryelova, O. / Shah, J. / Koutsoubos, T. et al. | 2017
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Novel binding partner of dysferlin is required for plasma-membrane repairOno, H. / Suzuki, N. / Kanno, S. / Izumi, R. / Takahashi, T. / Kitajima, Y. / Osana, S. / Akiyama, T. / Ikeda, K. / Shijo, T. et al. | 2017
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Establishment of novel autoimmune animal model for sporadic inclusion body myositisTawara, N. / Yamashita, S. / Zhang, X. / Zhang, Z. / Doki, T. / Matsuo, Y. / Nakane, S. / Maeda, Y. / Ando, Y. et al. | 2017
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CNTNAP1: Extending the phenotype of congenital hypomyelinating neuropathy in 6 further patientsLow, K. / Stals, K. / Caswell, R. / Clayton-Smith, J. / Donaldson, A. / Foulds, N. / Splitt, M. / Norman, A. / Urankar, K. / Vijayakumar, K. et al. | 2017
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Homozygous p.R707W MFN2 mutation is associated with neuropathy, lipomatosis, peripheral lipoatrophy and metabolic alterationsMasingue, M. / Vatier, C. / Jéru, I. / Latour, P. / Jardel, C. / Laforêt, P. / Eymard, B. / Vigouroux, C. / Stojkovic, T. et al. | 2017
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Prospective cohort study of spinal muscular atrophy types 2 and 3 in Spanish populationNatera-de Benito, D. / Alarcon, M. / Borrás, A. / Armas, J. / Frongia, A. / Itzep, D. / Vigo, M. / Medina, J. / Ortez, C. / Colomer, J. et al. | 2017
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Differential expression of microRNAs in spinal muscular atrophy points towards significant peripheral organ involvement in the diseaseZhou, H. / Scoto, M. / Catapano, F. / Zahariewa, I. / Muntoni, F. et al. | 2017
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The influence of personal assistance on employment outcomes for young adults with neuromuscular diseaseWolff, J. / Shaw, L. et al. | 2017
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Men with Duchenne muscular dystrophy and end of life planningAbbott, D. / Prescott, H. / Forbes, K. / Fraser, J. / Majumdar, A. et al. | 2017
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31P and 1H nuclear magnetic resonance spectroscopy characterization of skeletal muscle pH dysregulation in Duchenne muscular dystrophy patients at restReyngoudt, H. / Turk, S. / Carlier, P. et al. | 2017
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A novel BAG3 mutation associated with myofibrillar myopathy emphasizes HSP70 dependent activityBengoechea, R. / Motley, W. / Bird, S. / Zuchner, S. / Scherer, S. / Weihl, C. et al. | 2017
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Magnetic resonance biomarkers in the proximal and distal upper extremity in a large cohort of boys with Duchenne muscular dystrophyWillcocks, R. / Forbes, S. / Lott, D. / Senesac, C. / Arora, H. / Barnard, A. / Harrington, A. / Daniels, M. / Finanger, E. / Tennekoon, G. et al. | 2017
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Integrated genome analysis of COX deficiency in JapanTakayama, K. / Iida, A. / Noguchi, S. / Nonaka, I. / Goto, Y. / Nishino, I. et al. | 2017
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Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophyDoorenweerd, N. / Mahfouz, A. / van Putten, M. / Kaliyaperumal, R. / Hendriksen, J. / Aartsma-Rus, A. / Verschuuren, J. / Niks, E. / Reinders, M. / Kan, H. et al. | 2017
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Autosomal recessive myopathy associated with cataracts and learning difficulties caused by INPP5K mutations: a new syndromic gene linking four overlapping rare recessive neuromuscular disordersRoos, A. / Senderek, J. / Cox, D. / Wiessner, M. / Zahedi, R. / Charlton, R. / Barresi, R. / Hathazi, D. / Lochmüller, H. et al. | 2017
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Bethlem myopathy, the other side of collagen VI myopathiesMartins, A. / Almeida, M. / Geraldo, A. / Matos, A. / Negrao, L. et al. | 2017
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Body composition of patients with Duchenne muscular dystrophyWong, B. / Hu, S. / Horn, P. / Rybalsky, I. / Shellenbarger, K. / Tian, C. / Bange, J. / Kalkwarf, H. et al. | 2017
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Limb-girdle muscular dystrophy related to LAMA2 mutations: an unusual familial coincidence responsible for the phenotypic variability and diagnostic difficultiesGuillet-Pichon, V. / Leturcq, F. / Claeys, K. / Beroud, C. / Nadaj-Pakleza, A. et al. | 2017
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Clinical aspects of excitation-contraction coupling (ECC) disordersJungbluth, H. et al. | 2017
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Skeletal muscle oxidative stress is related to functional outcome measures in ryanodine receptor 1-related congenital myopathiesTodd, J. / Witherspoon, J. / Razaqyar, M. / Chrismer, I. / Kuo, A. / Shelton, M. / Grunseich, C. / Mankodi, A. / Kokkinis, A. / Waite, M. et al. | 2017
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Finding clinical meaning in patient-reported functional health: development of the Duchenne muscular dystrophy lifetime mobility scaleHenricson, E. / McDonald, C. / Mayhew, A. / Bagley, A. / Joyce, N. / Oskarsson, B. / Sodeberg-Miller, L. / Liu, S. / Abresch, R. / Investigators, .. CINRG et al. | 2017
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Slow relaxation kinetics of sarcomeres contribute to muscle slowness in NEM6 patientsde Winter, J. / Molenaar, J. / Lassche, S. / Malfatti, E. / Romero, N. / Persson, M. / Rassier, D. / van Engelen, B. / Voermans, N. / Ottenheijm, C. et al. | 2017
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Estrogens as a potential disease modifier in FSHD: a retrospective clinical studyPuma, A. / Garibaldi, M. / Teveroni, E. / Deidda, G. / Moretti, F. / Sacconi, S. et al. | 2017
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Clinical gene panel in UNIFE patients orphans of genetic diagnosisNeri, M. / Selvatici, R. / Scotton, C. / Storbeck, M. / Vezyroglou, K. / Heller, R. / Tugnoli, V. / Bigoni, S. / Timmerman, V. / Wirth, B. et al. | 2017
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AT-300, a calcium modulator, improves muscle force production and decreases muscle degeneration in D2-mdx model of Duchenne muscular dystrophyBush, E. / Ward, C. / Suchyna, T. / Sacks, F. / Blaustein, M. / Escolar, D. et al. | 2017
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Genetic and phenotypic diversity in a panel of seven new DMD mouse models in the founder strains of the Collaborative CrossBogdanik, L. / Carpentier, K. / Cantor, L. / Lutz, C. et al. | 2017
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Recessive myopalladin mutations cause congenital cap myopathy with unusual rodsMalfatti, E. / Lornage, X. / Chéraud, C. / Schneider, R. / Biancalana, V. / Cuisset, J. / Garibaldi, M. / Eymard, B. / Fardeau, M. / Boland, A. et al. | 2017
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Tacrolimus treatment in patients with long-standing ocular myasthenia gravisOh, S. et al. | 2017
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"Core-rod" congenital myopathy with bilateral foot-drop. A challenging clinical and genetic diagnosisMonges, S. / Lubieniecki, F. / Leal, C. Paz Vargas / de Castro, F. / Aguerre, V. / Mozzoni, J. / Foncuberta, E. / Monnier, N. / Böhm, J. / Laporte, J. et al. | 2017
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Muscular fat fraction correlates with functionality in myotonic dystrophy type 1Heskamp, L. / van Nimwegen, M. / Bassez, G. / Jimenez-Moreno, A. / Ploegmakers, M. / Deux, J. / Gorman, G. / Lochmüller, H. / Catt, M. / van Engelen, B. et al. | 2017
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Getting ready for clinical trials in myotonic dystrophy type 1 with the validation of functional outcome measuresJimenez-Moreno, A. / Nikolenko, N. / Moat, D. / Mayhew, A. / Massey, C. / Gorman, G. / Newman, J. / Kierkegaard, M. / Atalaia, A. / Turner, C. et al. | 2017
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Contribution of the NGS analysis to the hyperCKemiaMarti, P. / Muelas, N. / Jaijo, T. / Millan, J. / Azorin, I. / Vilchez, J. et al. | 2017
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Success of preclinical drug trials using reliable and reproducible endpoints in mouse models of neuromuscular diseasesNagaraju, K. / Mullen, A. / MacKinnon, A. / Uaesoontrachoon, K. / Hoffman, E. / Srinivassane, S. et al. | 2017
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Axial myopathy: clinical and histopathological features in 7 patientsShin, J. / Choi, S. / Ahn, S. / Lim, S. / Sung, J. et al. | 2017
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A rare cause of congenital ptosis with external ophthalmoplegia: case report and differential diagnosisSanchez-Albisua, I. / Kaiser, O. / Rupprich, K. / Kölbel, H. / Della, A. / Schara, U. et al. | 2017
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Development of novel observer-reported outcome assessments in clinical trials of patients with Duchenne muscular dystrophyMartin, D. / Macary, C. / Jones, C. / Walker, L. / O'Connor, M. / Thompson, E. / Gallitano, K. / Leffler, M. / McSherry, C. / Kosinski, M. et al. | 2017
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Unexpected gene expression findings in the titinopathy mouse model FINmaj-KI using RNA-SeqJonson, P. / Krahe, R. / Richard, I. / Peng, B. / Hackman, P. / Udd, B. et al. | 2017
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Consistency between natural history and clinical trial placebo arms for 48-week changes in six-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD)Mercuri, E. / Goemans, N. / Sajeev, G. / Yao, Z. / McDonnell, E. / Ward, S. / Signorovitch, J. et al. | 2017
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Family impact and Health-Related Quality of Life (HRQoL) of parents and individuals with SMABelter, L. / Jarecki, J. / Hobby, K. / Teynor, M. et al. | 2017
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Use of the Microsoft Kinect during motor function assessments of patients with Spinal muscular atrophy children: Kinect-MFM studyVincent-Genod, D. / Coton, J. / Rippert, P. / Thomann, G. / Vuillerot, C. et al. | 2017
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Different kinetic profiles of 2 patients presenting with muscle b-enolase deficiencyWigley, R. / Scalco, R. / Gardiner, A. / Booth, S. / Chatfield, S. / Godfrey, R. / Desikan, M. / Kirk, R. / Hilton-Jones, D. / Houlden, H. et al. | 2017
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The coexistence of eight D4Z4 repeat units and FAT1 mutation in facioscapulohumeral muscular dystrophyKim, K. / Lee, J. / Park, H. / Shin, H. / Kim, H. / Choi, Y. et al. | 2017
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Identification of new inhibitors of misfolded alpha-sarcoglycan degradation by high-throughput screeningHoch, L. / Egespipe, A. / Marsolier, J. / Henriques, S. / Richard, I. / Nissan, X. et al. | 2017
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Dose finding study in the DMDmdx rat model to determine the efficacious dose of a rAAV9 vector encoding a human mini-dystrophin after IV administrationGuiner, C. Le / McIntyre, M. / Larcher, T. / Adjali, O. / Lafoux, A. / Toumaniantz, G. / Wood, L. / Xiao, X. / Moullier, P. / Samulski, R. et al. | 2017
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Novel homozygous recessive MYH2 variant associated with an autosomal dominant clinical pathological phenotypeFindlay, A. / Harms, M. / Pestronk, A. / Weihl, C. et al. | 2017
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Infants and children with SMA treated with nusinersen in clinical trials: an integrated safety analysisMercuri, E. / Finkel, R. / Farrar, M. / Richman, S. / Foster, R. / Hughes, S. / Farwell, W. / Gheuens, S. et al. | 2017
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CRISPR/Cas9-mediated genome editing corrects splicing alterations in myotonic dystrophy type 1Lo Scrudato, M. / Poulard, K. / Klein, A. / Tomé, S. / Martin, S. / Gourdon, G. / Furling, D. / Buj-Bello, A. et al. | 2017
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Src tyrosine kinase as potential drug target in Duchenne muscular dystrophy: in vivo and in vitro preclinical studiesSanarica, F. / Mantuano, P. / Cozzoli, A. / Capogrosso, R. / Denora, N. / Cutrignelli, A. / Conte, E. / Giustino, A. / De Bellis, M. / Camerino, G. et al. | 2017
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Cataract development associated with long term glucocorticoid therapy in DMD patientsRice, M. / Yang, M. / Horn, P. / Bange, J. / Wong, B. et al. | 2017
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Generation of a new, inducible model of FSHD that develops overt myopathic phenotypesGiesige, C. / Heller, K. / Wallace, L. / Domire, J. / Eidahl, J. / Mukweyi, D. / Garwick-Coppens, S. / Guckes, S. / Rodino-Klapac, L. / Harper, S. et al. | 2017
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SGT-001 Micro-dystrophin gene therapy for Duchenne muscular dystrophySchneider, J. / Gonzalez, J. / Brown, K. / Golebiowski, D. / Ricotti, V. / Quiroz, J. / Morris, C. et al. | 2017
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CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathyBöhm, J. / Lornage, X. / Zanotti, S. / Cudia, P. / Schneider-Gold, C. / Malfatti, E. / Mora, M. / Laporte, J. et al. | 2017
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Clinical variability in myotonic dystrophy type 1: a five-categories disease classification fits clinical but not brain complexityBaldanzi, S. / Simoncini, C. / Ricci, G. / Angelini, C. / Siciliano, G. et al. | 2017
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Whole-body rescue of Pompe disease with AAV liver delivery of engineered secretable GAA transgenesColella, P. / Puzzo, F. / Biferi, M. / Bali, D. / Paulk, N. / Vidal, P. / Collaud, F. / Simon-Sola, M. / Charles, S. / Hardet, R. et al. | 2017
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High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogsDupont, J. / Guo, J. / Gray, J. / Buj-Bello, A. / Childers, M. / Mack, D. et al. | 2017
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Potential role of exosomes in skeletal muscle fibrosisZanotti, S. / Gibertini, S. / Blasevich, F. / Saredi, S. / Bragato, C. / Ruggieri, A. / Mantegazza, R. / Maggi, L. / Mora, M. et al. | 2017
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X-Linked myotubular myopathy (XLMTM): phenotypic variabilityOrtez, C. / Natera, D. / Colomer, J. / Itzep, D. / Alarcón, M. / Frongia, A. / Jou, C. / Codina, A. / Jimenez-Mallebrera, C. / Martorell, L. et al. | 2017
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Interim analysis of an investigator-initiated multi-site late-onset Pompe disease screening studyWencel, M. / Goyal, N. / Mozaffar, T. et al. | 2017
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Proximal myopathy without episodic weakness in relation with a probable novel mutation of the CACNA1S geneMoris, G. / Martinez, L. / Aurora, A. / Alvarez, V. et al. | 2017
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Kv1.3 expression on effector memory T cells in sporadic inclusion body myositis: potential for targeted immunotherapy with dalazatideMozaffar, T. / Wencel, M. / Goyal, N. / Philips, C. / Olsen, C. et al. | 2017
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Intramuscular injection of recombinant adeno-associated viral vectors expressing mutant MATR3 recapitulates pathological features of VCPDMZhang, X. / Yamashita, S. / Tawara, N. / Doki, T. / Zhang, Z. / Hara, K. / Matsuo, Y. / Nagai, M. / Ando, Y. et al. | 2017
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Calpain-3 stability following delays in freezing skeletal muscle biopsy samples-stablishing an optimal time frame for accurate interpretationKennedy, P. / McLean, C. / Lamb, G. / Murphy, R. et al. | 2017
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A large multi-generation family with a novel CAV3 mutation highlights extreme phenotypic variability and early childhood presentationsLongman, C. / Farrugia, M. / Topf, A. / Hathazi, D. / Barresi, R. / Stewart, W. / Roos, A. / Horrocks, I. et al. | 2017
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Corticosteroid treatment in early-onset lamin A/C related muscular dystrophiesDabaj, I. / Ben Yaou, R. / Bönnemann, C. / Nascimento, A. / Rutkowski, A. / Erazo Torricelli, R. / Muntoni, F. / Lagrue, E. / Dowling, J. / Bushby, K. et al. | 2017
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Simple and fast drawing of regions of interest in leg muscles NMR imagesBaudin, P. / Beyeler, M. / Carlier, P. / Scheidegger, O. et al. | 2017
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Mouse model of BAG3 myofibrillar myopathyRobertson, R. / Conte, T. / Dicaire, M. / Bryson-Richardson, R. / Lavoie, J. / O'Ferrall, E. / Young, J. / Brais, B. et al. | 2017
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Exercise intolerance in a large multigeneration family associated with a homoplasmic mitochondrial DNA mutation in MT-TL1Darin, N. / Hedberg-Oldfors, C. / Kroksmark, A. / Moslemi, A. / Kollberg, G. / Oldfors, A. et al. | 2017
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Identification of therapies for myofibrillar myopathyRuparelia, A. / Williams, C. / McKaige, E. / Oorschot, V. / Baxter, E. / Schulze, K. / Ramm, G. / Bryson-Richardson, R. et al. | 2017
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Long-term benefits of glucocorticoids in Duchenne muscular dystrophy: is it worth it?McDonald, C. / Henricson, E. / Abresch, R. / Duong, T. / Joyce, N. / Hu, F. / Clemens, P. / Hoffman, E. / Cnaan, A. / Gordish-Dressman, H. et al. | 2017
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Relationships between ambulatory function and body composition in patients with Duchenne muscular dystrophyWong, B. / Signorovitch, J. / Hu, S. / Bange, J. / Rybalsky, I. / Shellenbarger, K. / Tian, C. / Swallow, E. / Song, J. / Ward, S. et al. | 2017
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Necroptosis, a programmed form of necrosis, participates in muscle degeneration in Duchenne muscular dystrophyBencze, M. / Meng, J. / Pini, V. / Conti, F. / Muntoni, F. / Morgan, J. et al. | 2017
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Genetic and histological characterisation of excitation-contraction coupling related structural myopathy cohortBeecroft, S. / Choi, R. / McLean, C. / Olive, M. / Ryan, M. / Davis, M. / Laing, N. / Launikonis, B. / Ravenscroft, G. et al. | 2017
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Editorial Board| 2017
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Development of microdystrophins for gene therapy of DMDChamberlain, J. / Ramos, J. / Hollinger, K. / Crudele, J. / Bengtsson, N. / Hauschka, S. et al. | 2017
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Development and sensibility evaluation of the muscular dystrophy child health index of life with disabilities questionnairePropp, R. / Weir, S. / Encisa, C. / Davis, A. / McAdam, L. / Salbach, N. / Narayanan, U. et al. | 2017
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Identification and characterisation of ATP2A1 variants through whole exome sequencingJohnson, K. / Arroyo, A. Martinez / Zulaica, M. / Fernández-Torrón, R. / de Munain, A. Lopez / Töpf, A. / Bertoli, M. / Phillips, L. / Blain, A. / Ensini, M. et al. | 2017
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New outcome measures for pain and fatigue during a typical day: pain and fatigue graphsJanssen, R. / Cup, E. / Packer, T. / Ijspeert, J. / van Alfen, N. / Groothuis, J. et al. | 2017
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A case of mistaken diagnosis with serendipitous therapeutic implicationsSweeney, N. Mc / Carter, M. / Greene, A. / Mahony, O. O / Lynch, B. et al. | 2017
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Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failureMariot, V. / Joubert, R. / Hourdé, C. / Féasson, L. / Hanna, M. / Muntoni, F. / Maisonobe, T. / Servais, L. / Panse, R. Le / Benveniste, O. et al. | 2017
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Quantification of microdystrophin and correlation to circulating biomarkersBrown, K. / Lawlor, M. / Golebiowski, D. / Gonzalez, P. / Ricotti, V. / Schneider, J. / Morris, C. et al. | 2017
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Associations between grip strength, myotonia and CTG expansion in myotonic dystrophy type 1Hogrel, J. / Ollivier, G. / Ledoux, I. / Hébert, L. / Eymard, B. / Puymirat, J. / Bassez, G. et al. | 2017
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AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: decreased need of ventilatory and nutritional support at End-of-StudyShell, R. / Al-Zaidy, S. / Arnold, W. / Rodino-Klapac, L. / Prior, T. / Lowes, L. / Alfano, L. / Berry, K. / Church, K. / Kissel, J. et al. | 2017
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Patient-derived pluripotent stem cells: an in vitro model for neuromuscular diseases and high-throughput drug screeningbenichou, S. Ait / Martineau, L. / Chahine, M. / Marquette, P. / Maziade, M. / Leblanc, A. / Puymirat, J. et al. | 2017
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In vivo analysis of dystrophin (re-) expression in DmdEGFP and DmdEGFP-mdx reporter micePetkova, M. / Laplace-Builhé, C. / Goyenvalle, A. / Garcia, L. / Schuelke, M. / Amthor, H. et al. | 2017
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A national French consensus on gene lists for NGS-based diagnosis of myopathiesKrahn, M. / Biancalana, V. / Michel-Calemard, L. / Nectoux, J. / Leturcq, F. / Seraphin, C. Bouchet / Bourdain-Acquaviva, C. / Froissart, R. / Melki, J. / Urtizberea, J. et al. | 2017
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What is the prognosis after invasive ventilation for adult patients with a myotonic dystrophy type 1?Tard, C. / Jaillette, E. / Duva Pentiah, A. / Perez, T. / Mallart, A. / NGuyen, S. / Thevenon, A. / Danel Brunaud, V. / Preudhomme, M. et al. | 2017
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Recessive mutations in novel gene MST01 cause early onset neuromuscular conditionSarkozy, A. / Zaharieva, I. / Nasca, A. / Scotton, C. / Selvatici, R. / Neri, M. / Magnusson, O. / Gal, A. / Weaver, D. / Armaroli, A. et al. | 2017
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Genetic diagnosis of inherited peripheral neuropathies using gene panel testing: The utility of follow up familial testing in 4 years of experienceForrester, N. / Buxton, C. / Greenslade, M. / Vijayakumar, K. / Majumdar, A. et al. | 2017
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Detailed natural history of the mdx-DBA modelvan Putten, M. / Overzier, M. / Putker, K. / Kogelman, B. / Adamzek, W. / van der Weerd, L. / Plomp, J. / Aartsma-Rus, A. et al. | 2017
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A novel MTM1 mutation in a patient with X-linked myotubular myopathyRosa, T. / Domingues, J. / Iwabe-Marchese, C. / Martinez, A. / Mansur, E. / França, M. / Nucci, A. et al. | 2017
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Satellite cell alteration in DNM2-related centronuclear myopathyAlmeida, C. / Bitoun, M. / Vainzof, M. et al. | 2017
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Chronic progressive myopathy in a young patient with hyperkalemic periodic paralysisShin, H. / Jeong, H. / Kim, H. / Lee, J. / Choi, Y. et al. | 2017
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Antibodies anti-ERT do not influence muscle fatty infiltration in a long cohort of patients with late onset Pompe diseaseFigueroa-Bonaparte, S. / Segovia, S. / Belmonte, I. / Pedrosa, I. / Montiel, E. / Llauger, J. / Alonso-Jimenez, A. / Gallardo, E. / Illa, I. / Diaz-Manera, J. et al. | 2017
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Establishment of a panel for the evaluation of the dystrophic process by quantitative RT-PCRVaubourg, C. / Bellec, J. / Gicquel, E. / Lostal, W. / Richard, I. et al. | 2017
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Identification of patients with late-onset Pompe disease (LOPD) based on muscle biopsy and clinical correlates: experience of a reference centreLubieniecki, F. / Taratuto, A. et al. | 2017
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Dermatomyositis associated with hearing loss, peripheral nerve vasculitis and multi-system dysfunctionDhawan, P. / Naddaf, E. et al. | 2017
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Muscle fiber dysfunction contributes to clinical muscle weakness in inclusion body myositisLassche, S. / Rietveld, A. / Heerschap, A. / Van Hees, J. / Hopman, M. / Saris, C. / Voermans, N. / Van Engelen, B. / Ottenheijm, C. et al. | 2017
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POPDC1 gene mutation screening in patients with LGMD and heart disturbances: a mutation load effect?Rossi, R. / Scotton, C. / Barton, P. / Buchan, R. / Walsh, R. / Cook, S. / Milting, H. / Bonne, G. / Brand, T. / Ferlini, A. et al. | 2017
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The recessive SOD1 mutation p.A90V may cause atypical motor neuron disease by oligogenic mechanismsJokela, M. / Penttilä, S. / Udd, B. et al. | 2017
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CAV3 p.Ala93Thr pathogenic mutation causing hypertrophic cardiomyopathyScalco, R. / Savvatis, K. / Desikan, M. / Parton, M. / Turner, C. et al. | 2017
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Reliability of DTI-based muscle-volumetry as compared to conventional T1-based manual segmentationRehmann, R. / Schlaffke, L. / Kley, R. / Vorgerd, M. / Tegenthoff, M. et al. | 2017
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Data analysis of dystrophinopathy national registry in JapanKimura, E. / Mori-Yoshimura, M. / Nakamura, H. / Komaki, H. / Nishino, I. / Takeda, S. et al. | 2017
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Reducing body myopathy as a new phenotype of Filamin C mutationJanin, A. / Manel, V. / Millat, G. / Streichenberger, N. et al. | 2017
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Adding quantitative muscle MRI to the FSHD clinical trial toolboxMul, K. / Vincenten, S. / Voermans, N. / van der Maarel, S. / Padberg, G. / Horlings, C. / van Engelen, B. et al. | 2017
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TIEG1 is a novel regulator of muscle mitochondrial biogenesisKammoun, M. / Veksler, V. / Piquereau, J. / Bonne, G. / Beuvin, M. / Nelson, I. / Pouletaut, P. / Subramaniam, M. / Hawse, J. / Bensamoun, S. et al. | 2017
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Myoglobinuria in two patients with Duchenne muscular dystrophy after treatment with zoledronate: a case-report and call for cautionBloetzer, C. / Jacquier, D. / Klein, A. / Ivanyuk, A. / Segarra, N. Garcia et al. | 2017
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Congenital muscular dystrophy in Taiwan: a referral center experienceLiang, W. / Tian, X. / Yuo, C. / Chen, W. / Kan, T. / Su, Y. / Nishino, I. / Wong, L. / Jong, Y. et al. | 2017
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Long-term effects of TRPV2 inhibition therapy for cardiomyopathy of muscular dystrophyMatsumura, T. / Matsui, M. / Iwata, Y. / Asakura, M. / Saito, T. / Fujimura, H. / Sakoda, S. et al. | 2017
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Electrophysiological and pathological studies of peripheral nerves in children with merosin-deficient congenital muscular dystrophy type 1ASaito, Y. / Ishiyama, A. / Takeshita, E. / Shimizu-Motohashi, Y. / Komaki, H. / Sugai, K. / Nishino, I. / Sasaki, M. et al. | 2017
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A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophyReghan Foley, A. / Donkervoort, S. / Bolduc, V. / Hu, Y. / Cummings, B. / Lek, M. / Sarkozy, A. / Jimenez-Mallebrera, C. / Butterfield, R. / Lamande, S. et al. | 2017
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Predictors of ambulation in patients with Duchene muscular dystrophyZapata Aldana, E. / Eltayeb, N. / Miller, M. / Campbell, C. et al. | 2017
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Abolition of the NLRP3 inflammasome improves the dystrophic phenotype in a murine model of Duchenne muscular dystrophyBoursereau, R. / Abou-Samra, M. / Lecompte, S. / Noel, L. / Brichard, S. et al. | 2017
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Using a traffic light system to aid advance care planning in neuromuscular patientsVithlani, R. / Bassie, C. / Willis, T. / Kulshrestha, R. et al. | 2017
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Assessment of chewing function and investigation reliability of Karaduman chewing performance scale in pediatric neuromuscular diseasesSerel Arslan, S. / Aydın, G. / Alemdaroğlu, I. / Yılmaz, O. / Karaduman, A. et al. | 2017
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European reference network for rare neuromuscular diseases: EURO-NMDEvangelista, T. / Leary, R. / Hails, M. / Lochmüller, H. / Bushby, K. et al. | 2017
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TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremorKariminejad, A. / Dahl-Halvarsson, M. / Ravenscroft, G. / Afroozan, F. / Keshavarz, E. / Goullée, H. / Davis, M. / Laing, N. / Tajsharghi, H. et al. | 2017
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The reliability and validity of Turkish version of pedsQL multidimensional fatigue scale in Duchenne muscular dystrophyAlemdaroğlu, I. / Bulut, N. / Bozgeyik, S. / Karaduman, A. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
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Validation of a prognostic score for changes in six-minute walk distance (6MWD) in patients with Duchenne muscular dystrophy (DMD)Goemans, N. / Hauwe, M. vanden / Sajeev, G. / Yao, Z. / McDonnell, E. / Ward, S. / Signorovitch, J. et al. | 2017
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Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB geneNascimento, A. / Ortez, C. / Natera, D. / Frongia, A. / Alarcon, M. / Itzep, D. / Jou, C. / Codina, A. / Corbera, J. / Jimenez – Mallebrera, C. et al. | 2017
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Edasalonexent (CAT-1004), an NF-kB inhibitor, enhances myotube formation in vitro, and increases exon-skipped sarcolemmal dystrophin in muscle of mdx miceNichols, A. / Reilly, J. / Liu, F. / Bista, P. / Lee, D. / Webb, S. / Picarella, D. / Wood, J. / Yao, M. / Passini, M. et al. | 2017
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A series of case reports from JEWELFISH, an open-label study to investigate the safety, tolerability, and pharmacokinetics/ pharmacodynamics of RG7916 in adult and pediatric patients with spinal muscular atrophy who previously participated in a study with another SMN2-targeting therapyChiriboga, C. / Mercuri, E. / Fischer, D. / Marquet, A. / Kraus, D. / Alexander, M. / Cho, A. / Armstrong, G. / Kletzl, H. / Czech, C. et al. | 2017
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MoveDMD: phase 2 trial of edasalonexent, an NF-κB inhibitor, in 4 to 7-year old patients with Duchenne muscular dystrophyFinkel, R. / Vandenborne, K. / Sweeney, H. / Finanger, E. / Tennekoon, G. / Shieh, P. / Willcocks, R. / Forbes, S. / Triplett, W. / Yum, S. et al. | 2017
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Effects of long-term eteplirsen treatment on upper limb function in patients with Duchenne muscular dystrophy: findings of two phase 2 clinical trialsAlfano, L. / Berry, K. / Mendell, J. / Eliopoulos, H. / Han, L. / Lowes, L. et al. | 2017
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Mitochondrial dysfunction in oculopharyngeal muscular dystrophyDoki, T. / Yamashita, S. / Wei, F. / Zhang, X. / Zhang, Z. / Tawara, N. / Hino, H. / Uyama, E. / Aaki, K. / Tomizawa, K. et al. | 2017
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Nusinersen demonstrates greater efficacy in infants with shorter disease duration: End of study results from the ENDEAR study in infants with spinal muscular atrophy (SMA)Servais, L. / Farrar, M. / Finkel, R. / Kirschner, J. / Muntoni, F. / Sun, P. / Gheuens, S. / Schneider, E. / Farwell, W. et al. | 2017
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AVXS-101 phase 1 gene therapy clinical trial in SMA Type 1: end-of-Study event free survival and achievement of developmental milestonesMendell, J. / Al-Zaidy, S. / Shell, R. / Arnold, W. / Rodino-Klapac, L. / Prior, T. / Lowes, L. / Alfano, L. / Berry, K. / Church, K. et al. | 2017
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Effects of botulinum toxin injections in the cricopharyngeal muscle of OPMD and IBM myopathies with dysphagiaWitting, N. / Daugaard, D. / Prytz, S. / Vissing, J. et al. | 2017
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Utility of a next-generation sequencing (NGS)-based neuromuscular disease gene panel in an investigation of 30 families with early-onset presentation from a tertiary pediatric neuromuscular clinicArdicli, D. / Nowak, K. / Haliloglu, G. / Goullee, H. / Davis, M. / Talim, B. / Laing, N. / Topaloğlu, H. et al. | 2017
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Integrated analysis of the large-scale sequencing project "Myocapture" to identify novel genes for myopathiesBöhm, J. / Schneider, R. / Malfatti, E. / Schartner, V. / Lornage, X. / Nelson, I. / Bonne, G. / Eymard, B. / Nectoux, J. / Leturcq, F. et al. | 2017
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SPEG deficiency is associated with muscle weakness, triad defect, abnormal calcium handling and EC couplingHuntoon, V. / Widrick, J. / Sanchez, C. / Kutchukian, C. / Cao, S. / Beggs, A. / Jacquemond, V. / Agrawal, P. et al. | 2017
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PhaseOut DMD: a Phase 2, proof of concept, clinical study of utrophin modulation with ezutromidMuntoni, F. / Maresh, K. / Davies, K. / Harriman, S. / Layton, G. / Rosskamp, R. / Russell, A. / Tejura, B. / Tinsley, J. et al. | 2017
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Development of a MBNLΔ decoy-based gene therapy for myotonic dystrophyMatloka, M. / Arandel, L. / Rau, F. / Marie, J. / Ferry, A. / Sergeant, N. / Furling, D. et al. | 2017
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Dynamic assessment of muscle perfusion, deoxymyoglobin and phosphorylated metabolites concentrations through fast interleaved NMR acquisitions with a clinical 3T scannerKolkovsky, A. Lopez / Marty, B. / Coppa, B. / Giacomini, E. / Carlier, P. et al. | 2017
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Identification of serum protein biomarkers for utrophin based DMD therapyGuiraud, S. / Edwards, B. / Squire, S. / Babbs, A. / Shah, N. / Berg, A. / Chen, H. / Davies, K. et al. | 2017
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Large scale validation of functional expression of ClC-1 variants in genetic counselling of myotonia congenitalSuetterlin, K. / Sud, R. / Burge, J. / McCall, S. / Fialho, D. / Haworth, A. / Sweeney, M. / Houlden, H. / Schorge, S. / Matthews, E. et al. | 2017
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Stabilized next-generation recombinant human acid alpha-glucosidase ATB200 clears accumulated glycogen and reverses cellular dysfunction to increase muscle strength in a mouse model of Pompe diseaseXu, S. / Lun, Y. / Nair, A. / Frascella, M. / Garcia, A. / Soska, R. / Ponery, A. / Schilling, A. / Della Valle, C. / Feng, J. et al. | 2017
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Quantitation of sialylation status by lectin immunofluorescence in muscle biopsies of patients with GNE myopathy: assessing response to therapyHuizing, M. / Leoyklang, P. / Class, B. / Ciccone, C. / Glowacki, A. / Jodarski, C. / Perrault, J. / Gahl, W. / Carrillo, N. / Malicdan, M. et al. | 2017
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Palliative care in children with spinal muscular atrophy type 1: how do they die? Results from a French multicentric study (National Hospital Clinical Research Program)Hully, M. / Barnerias, C. / Vanesse, S. / Viallard, M. / Desguerre, I. et al. | 2017
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Role of muscle satellite cells in Spinal muscular atrophy physiopathologyMecca, J. / Astord, S. / Marais, T. / Relaix, F. / Didier, N. / Barkats, M. et al. | 2017
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Nutritional status of a large cohort of children with spinal muscular atrophy type 2 (SMA2)Schottlaender, L. / Scoto, M. / Imbrigiotta, N. / Davis, T. / Main, M. / Munot, P. / Sarkozy, A. / Manzur, A. / Muntoni, F. et al. | 2017
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Palliative medicine and neuromuscular disorders in adults- pilot symptom control clinic patient satisfaction and intervention efficacyWillis, D. / Easthope-Mowatt, Y. / Bassie, C. / McFarlane, M. / Kulshresthra, R. / Willis, T. et al. | 2017
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Registry of congenital neuromuscular disorders in Japan: establishment and implementationIshiyama, A. / Kimura, E. / Nakamura, H. / Komaki, H. / Sasaki, M. / Nishino, I. et al. | 2017
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Muscle MRI findings in spinal muscular atrophy type 3Karasoy, H. / Ozkan, T. / Argin, M. / Yuceyar, A. / Ekmekci, O. et al. | 2017
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Correlation of serum biomarkers and magnetic resonance spectroscopy (MRS) in monitoring disease progression in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) due to mtDNA A3243G mutationLee, H. / Lee, Y. et al. | 2017
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Cardiac involvement in a patient with congenital muscular dystrophy related to POMT2 gene mutationSframeli, M. / La Rosa, M. / Distefano, M. / Barcellona, C. / Vita, G. / Nicocia, G. / Astrea, G. / D'Amico, A. / Bertini, E. / Santorelli, F. et al. | 2017
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A rare form of congenital muscle disorders; megakonial congenital muscular dystrophyAksoy, A. / Köken, Ö. / Özyürek, H. / Talim, B. et al. | 2017
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The effects of calf massage in boys with Duchenne muscular dystrophyde Valle, K. / Yiu, E. / Ryan, M. / Kornberg, A. / Kennedy, R. / Villano, D. / Carroll, K. et al. | 2017
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The impact of an interdisciplinary DMD clinic model on volume of care recommendationsMcAdam, L. / Setchell, J. / Thille, P. / Abrams, T. / Mistry, B. / Gibson, B. et al. | 2017
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Acute effect of muscle facilitation application on performance and energy expenditure in Duchenne muscular dystrophyAydın, G. / Alemdaroğlu, I. / Karaduman, A. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
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The relation of postural alignment and energy expenditure in boys with Duchenne muscular dystrophyBozgeyik, S. / Alemdaroğlu, I. / Karaduman, A. / Topaloğlu, H. / Yılmaz, O. et al. | 2017
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A new AAV10-mediated gene therapy for SOD1-linked ALSBiferi, M. / Cohen-Tannoudji, M. / Cappelletto, A. / Giroux, B. / Roda, M. / Astord, S. / Marais, T. / Ferry, A. / Voit, T. / Barkats, M. et al. | 2017
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Characterization of molecular pathophysiology in muscular dystrophy by next generation RNA sequencing using DMD and CMD mouse modelsYanay, N. / Elbaz, M. / Konikov, J. / Elgavish, S. / Rabie, M. / Mitrani-Rosenbaum, S. / Nevo, Y. et al. | 2017
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Functional and morphological improvement of skeletal muscle in Pompe disease after forced satellite cell activationSchaaf, G. / van Gestel, T. / in 't Groen, S. / van der Ploeg, A. / Pijnappel, W. et al. | 2017
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Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathyDanièle, N. / Bogni, C. / Julien, L. / Piet, A. / Vignaud, A. / Buj-Bello, A. et al. | 2017
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Cyclophosphamide, thalidomide, and dexamethasone as alternative treatment regimen for sporadic late onset nemaline myopathy associated with monoclonal gammopathy of undetermined significanceTanboon, J. / Kumutpongpanich, T. / Owattanapanich, W. / Sangruchi, T. / Boonyapisit, K. / Nishino, I. et al. | 2017
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CYLD is a possible therapeutic target for sporadic inclusion body myositisYamashita, S. / Matsuo, Y. / Tawara, N. / Zhang, X. / Zhang, Z. / Doki, T. / Ando, Y. et al. | 2017
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A new actinopathy – adult onset LGMDPalmio, J. / Jonson, P. / Savarese, M. / Penttilä, S. / Huovinen, S. / Lindfors, M. / Udd, B. et al. | 2017
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Effects of water compartmentation and distribution on skeletal muscle T1 values assessed by quantitative NMR imagingMarty, B. / Coppa, B. / Baudin, P. / Carlier, P. et al. | 2017
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Duchenne muscular dystrophy patients with chest pain require cardiac evaluation: A report of eight DMD patients presenting with chest pain, marked troponin elevation, and worsening cardiomyopathyJohnston, P. / Hor, K. / Cripe, L. / Stiver, C. et al. | 2017
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Clustering trajectories of ambulatory function in the North Star clinical network databaseMuntoni, F. / Domingos, J. / Manzur, A. / Mayhew, A. / Guglieri, M. / Signorovitch, J. / Ward, S. et al. | 2017
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A natural history study of Becker muscular dystrophy by the CINRG investigatorsClemens, P. / Gonzalez, N. / Morgenroth, L. / Smith, A. / Niizawa, G. / Florence, J. / Gorni, K. / Abdel-Hamid, H. / Guglieri, M. / Connolly, A. et al. | 2017
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The multi-systemic protection against age-related tissue function decline in progeric mice through the attenuation of myostatin/activin signallingPatel, K. / Alyodawi, K. / Omairi, S. / Vermeij, W. / Kretz, O. / Salagna, F. / Huber, T. et al. | 2017
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Rare phenotypes related to novel autosomal recessive TTN truncating mutations: Escobar syndrome and congenital heart defect in two Brazilian patientsGurgel-Giannetti, J. / Linhares, N. / Giannetti, A. / Santos, D. / Silva, L. / Pena, S. et al. | 2017
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Unraveling upper extremity performance in DMD: a biophysical modelJanssen, M. / Harlaar, J. / Koopman, H. / de Groot, I. et al. | 2017
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Congenital myopathy associated with the Triadin knockout syndromeEngel, A. / Redhage, K. / Tester, D. / Ackerman, M. / Selcen, D. et al. | 2017
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Congenital myasthenia syndromes: clinical description of a pediatric cohortBénézit, A. / Sternberg, D. / Nicole, S. / Bauché, S. / Gitiaux, C. / Barnerias, C. / Rubinsztajn, R. / Bergounioux, J. / Mbieleu, B. / Ioos, C. et al. | 2017
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Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective studyAragon-Gawinska, K. / Gargaun, E. / Seferian, A. / Gidaro, T. / Gilabert, S. / Lilien, C. / Vuillerot, C. / Cances, C. / Daron, A. / Marucco, E. et al. | 2017
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Generation of biocompatible human artificial 3D skeletal muscle tissue from healthy and dystrophic pluripotent stem cellsMaffioletti, S. / Henderson, A. / Sarcar, S. / Mannhardt, I. / Moyle, L. / Ragazzi, M. / Wang, W. / Eschenhagen, T. / Tedesco, F. et al. | 2017
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Engineering of a 3D bioartificial niche for adult satellite cells expansion: role of oxygen contentGattazzo, F. / Laurent, B. et al. | 2017
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Quality of life in patients with facioscapulohumeral dystrophy type 1Moris, G. / Wood, L. / Gonzalez, J. / Fernandez-Torron, R. / Lochmüller, H. / Evangelista, T. et al. | 2017
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Multilevel molecular analysis identifies all dystrophin gene mutations pointing out that DMD is a genetically homogenous disease: repercussions on diagnosis, prevention and therapyNeri, M. / Selvatici, R. / Falzarano, M. / Trabanelli, C. / Ravani, A. / Rimessi, P. / Fabris, M. / Scotton, C. / Mauro, A. / Fortunato, F. et al. | 2017
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Misdiagnosis and diagnostic delay in McArdle diseaseScalco, R. / Morrow, J. / Booth, S. / Chatfield, S. / Godfrey, R. / Quinlivan, R. et al. | 2017
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Unusual findings in a TPM3 caseWillis, T. / Kulshrestha, R. / Curtis, E. / Sewry, C. et al. | 2017
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Survival in myotonic dystrophy type 1 predicted by the new DM1 survival risk scoreWahbi, K. / Porcher, R. / Laforêt, P. / Fayssoil, A. / Stojkovic, T. / Leonard Louis, S. / Behin, A. / Furling, D. / Arnaud, P. / Sochala, M. et al. | 2017
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C-terminal binding protein 1 (CtBP1) deficiency, mimicking congenital myopathy during infancyColomer, J. / De, B. / Ortez, C. / Jou, C. / Jiménez-Mallebrera, C. / Olivé, M. / Codina, A. / Alarcón, M. / Mamiesse, A. Fernández- / Corbera, J. et al. | 2017
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Analytical validation (based on CLIA & CLSI standards) of utrophin-laminin α2 and MHCd-laminin α2 duplex immunohistochemical assays using Computational Tissue Analysis (cTA™) for evaluation of Duchenne muscular dystrophy therapeuticsFaelan, C. / Tinsley, J. / Milici, A. / Moore, S. / Patterson-Kane, J. et al. | 2017
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Outcomes after 1-year in presymptomatic infants with genetically diagnosed spinal muscular atrophy (SMA) treated with nusinersen: interim results from the NURTURE studyHwu, W. / De, D. / Bertini, E. / Foster, R. / Gheuens, S. / Farwell, W. / Reyna, S. et al. | 2017
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MuSK MG patients showed a positive response to amifampridine phosphate in a randomized, placebo-controlled, crossover studyMantegazza, R. / Pasanisi, B. / Antozzi, C. / Maggi, L. / Andreetta, F. / Simoncini, O. / Bonanno, S. et al. | 2017
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RYR1-related myopathies: A wide range of clinical phenotypes and pathological histotypesFrongia, A. / Ortez, C. / Natera, D. / Itzep, D. Cortiza / Alarcón, M. / Maioli, M. / Suarez, A. Maritza Betancourt / Jou, C. / Codina, A. / Corbera, J. et al. | 2017
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A Phase I, single- and repeated-dose study of TAS-205, a novel inhibitor of hematopoietic prostaglandin D synthase, in patients with Duchenne muscular dystrophyKomaki, H. / Takeshita, E. / Motohashi, Y. / Ishiyama, A. / Sasaki, M. / Miyoshi, K. / Yamamiya, I. / Yamada, N. / Minami, N. et al. | 2017
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Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical casesLacourt, D. / Yauy, K. / Walther-Louvier, U. / Juntas-Morales, R. / Cances, C. / Espil, C. / Sole, G. / Arné-Bes, M. / Cintas, P. / Uro-coste, E. et al. | 2017
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Pharmacologic modulation of DUX4-dependent phenotypes in FSHDRojas, L. / Accorsi, A. / Shen, N. / Maglio, J. / Chang, A. / Rahl, P. / Cacace, A. et al. | 2017
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In vivo tracking of canine myoblasts mediated by the sodium iodide symporter gene expressionPunzón, I. / Mauduit, D. / Barthélémy, I. / Holvoet, B. / Blanchard-Gutton, N. / Thibaud, J. / de Fornel, P. / Deroose, C. / Vilquin, J. / Sampaolesi, M. et al. | 2017
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The leaky retina and facioscapulohumeral dystrophy: clues, cautions, conundrums and treatment| 2017
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Deregulation of IGF2BP1-mRNP components during the differentiation of FSHD muscle cellsAnsseau, E. / Sciot, M. / Goudji, C. / Castella, S. / Larcher, J. / Belayew, A. / Coppée, F. et al. | 2017
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Clinical studies of RG7916 in patients with spinal muscular atrophy: SUNFISH part 1 study updateMercuri, E. / Kirschner, J. / Baranello, G. / Servais, L. / Goemans, N. / Pera, M. / Marquet, A. / Seabrook, T. / Sturm, S. / Armstrong, G. et al. | 2017
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The success of whole exome sequencing analysis in neuromuscular diseases patients: the UNIFE experience within neuromics projectNeri, M. / Scotton, C. / Selvatici, R. / Gualandi, F. / Wirth, B. / Schols, L. / Klockgether, T. / Lochmüller, H. / Muntoni, F. / D'Amico, A. et al. | 2017
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Cardiac diastolic dysfunction correlates with the CTG trinucleotide repeat length in ambulatory myotonic dystrophy 1Park, J. / Park, D. / Sohn, J. / Shin, J. et al. | 2017
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A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiencyMalicdan, M. / Vilboux, T. / Ben-Zeev, B. / Guo, J. / Eliyahu, A. / Pode-Shakked, B. / Dori, A. / Kakani, S. / Chandrasekharappa, S. / Ferreira, C. et al. | 2017
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International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify dystrophin mutations by NGS technologiesSelvatici, R. / Rossi, R. / Trabanelli, C. / Rimessi, P. / Fini, S. / Gualandi, F. / Ferlini, A. et al. | 2017
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Axial myopathy in patients with neuromuscular diseasesRudolf, K. / Knak, K. / Witting, N. / Vissing, J. et al. | 2017
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Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trialGargaun, E. / Seferian, A. / Quicke, G. / Moraux, A. / Gidaro, T. / Gasnier, E. / Daron, A. / Péréon, Y. / Cances, C. / Vuillerot, C. et al. | 2017
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Myotonic discharges in a cohort of centronuclear myopathies.Domingues, J. / Rosa, T. / Iwabe-Marchese., C. / Martins, C. / Martinez, A. / Queiroz, L. / Pfeilsticker., B. / França, M. / Nucci, A. et al. | 2017
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Circulating miRs biomarkers for therapeutic monitoring in utrophin based DMD therapyRamadan, N. / Guiraud, S. / Edwards, B. / Squire, S. / Hemming, S. / Davies, K. et al. | 2017
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Skeletal muscle channelopathies: Rare treatable disorders with common presentation in childhoodMatthews, E. / Silwal, A. / Sud, R. / Manzur, A. / Hanna, M. / Muntoni, F. / Munot, P. et al. | 2017
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Osmolyte accumulator expression is induced in muscle cells in response to inflammationDe Paepe, B. / Zschuntzsch, J. / De Bleecker, J. / Schmidt, J. et al. | 2017
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Incidence and prevalence of inclusion body myositis in western SwedenLindgren, U. / Lindberg, C. / Oldfors, A. et al. | 2017
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A knock-in mouse model with nonsense dysferlin mutationShin, J. / Park, S. / Park, J. / Kim, D. et al. | 2017
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Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease. Types: a pilot studyKnak, K. / Andersen, L. / Vissing, J. et al. | 2017
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Anoctamin 5 muscular dystrophy mimicking metabolic myopathyDurmus, H. / Scalco, R. / Gardiner, A. / Manole, A. / Schapira, A. / Morrow, J. / Houlden, H. / Holton, J. / Johnson, K. / Töpf, A. et al. | 2017
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Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathyFernandez Torron, R. / Harris, E. / Bourke, J. / Bettinson, K. / Hilsden, H. / Spuler, S. / Day, J. / Jones, K. / Bharucha-Goebel, D. / Salort-Campana, E. et al. | 2017
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Abnormal trafficking of connexin 43: A key element in the development of LMNA cardiomyopathyMacquart, C. / Chatzifrangkeskou, M. / Gotthardt, M. / Bonne, G. / Muchir, A. et al. | 2017
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Long term follow-up of neuromuscular patients and family members submitted to psychoanalytical treatmentForbes, J. / Genesini, T. / Mouzat, A. / Bogochvol, A. / Castro, D. / Rüdiger, D. / Padovan, E. / Macedo, E. / Fonseca, F. / Andrade, H. et al. | 2017
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Auto calculation of muscle impairment ratio utilizing Mercuri grades from CT and MR images of muscleNakayama, T. / Ishiyama, A. / Murakami, T. / Kimura, E. / Kuru, S. et al. | 2017
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Long-term follow-up of MRI changes in thigh muscles of patients with facioscapulohumeral dystrophy: a quantitative studySalort-Campana, E. / Fatehi, F. / Le Troter, A. / Lareau-Trudel, E. / Bydder, M. / Guye, M. / Bendahan, D. / Attarian, S. et al. | 2017
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Muscle magnetic resonance imaging in inclusion body myositis: presentation of 16 casesRugiero, M. / Bettini, M. / Araoz, M. / Genco, N. / Chaves, M. / Christiansen, S. / Rassumoff, A. et al. | 2017
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Muscle alterations in sporadic inclusion body myositis assessed using quantitative nuclear magnetic resonance imaging and spectroscopy, ultrasound shear-wave elastography, and relationships with muscle functionBachasson, D. / Reyngoudt, H. / Turk, S. / Benveniste, O. / Hogrel, J. / Carlier, P. et al. | 2017
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Skeletal muscle tissue characterization of a large cohort of patients with Becker muscular dystrophy using quantitative NMR imagingMarty, B. / Toussaint, M. / Gilles, R. / Wahbi, K. / Carlier, P. et al. | 2017
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Congenital centronuclear myopathy and epidermolysis bullosa due to two novel mutations in the plectin geneWalter, M. / Reilich, P. / Krause, S. / Abicht, A. / Schoser, B. et al. | 2017
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Clinical and genetic characterization of collagen VI-related myopathies: difficulties in phenotypic characterization in the first years of lifeNatera-de Benito, D. / Alarcon, M. / Ortez, C. / Nascimento, A. / Jou, C. / Medina, J. / Vigo, M. / Codina, A. / Frongia, A. / Colomer, J. et al. | 2017
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Dysferlin reduces calcium leak and stabilizes excitation-contraction coupling in mature muscleBloch, R. / Lukyanenko, V. / Muriel, J. et al. | 2017
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Mitochondrial analysis in wild-type TDP-43 transgenic mice mimicking sporadic inclusion body myositisZhang, Z. / Yamashita, S. / Tawara, N. / Kawakami, K. / Doki, T. / Matsuo, Y. / Zhang, X. / Maeda, Y. / Ando, Y. et al. | 2017
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Sporadic inclusion body myositis: A polygenic disorder?Johari, M. / Arumilli, M. / Savarese, M. / Palmio, J. / Tasca, G. / Mirabella, M. / Maggi, L. / Hackman, P. / Udd, B. et al. | 2017
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Usefulness of cytoplasmic 5'- nucleotidase 1A autoantibodies for diagnosing patients with inclusion body myositisIkenaga, C. / Kadoya, M. / Kubota, A. / Shimizu, J. et al. | 2017
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North Star Assessment for dysferlinopathy: Longitudinal performance in the clinical outcome study of dysferlinopathyJames, M. / Mayhew, A. / Eagle, M. / Muni Lofra, R. / Maron, E. / Gee, R. / Harman, M. / Duong, T. / Vandevelde, B. / Siener, C. et al. | 2017
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Falls in children and adolescents with Charcot-Marie-Tooth disease and typically developing children: a six month prospective studyCarroll, K. / McGinley, J. / Paterson, K. / Ryan, M. / Kennedy, R. et al. | 2017
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Clinical and molecular spectrum of early onset LMNA-related muscular dystrophy in KoreaChoi, S. / Cho, A. / Kim, S. / Lim, B. / Kim, H. / Hwang, H. / Kim, K. / Chae, J. et al. | 2017
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Patient's perception around disease progression and influential factors in spinal muscle atrophyMuni Lofra, R. / Eagle, M. / Fort, A. / Ramsey, D. / Scoto, M. / Muntoni, F. / Bushby, K. / Lochmüller, H. / Straub, V. / Mayhew, A. et al. | 2017
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Understanding decision needs for respiratory interventions in paediatric neuromuscular disordersLove, D. / Mabaya, G. / Katz, S. / Lawson, M. / Price, A. / Radhakrishnan, D. / Mah, J. / Korngut, L. / McMillan, H. / Scholtes, C. et al. | 2017
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Usefulness of MRI in cases of hyperCKemiaMarti, P. / Muelas, N. / Diaz-Manera, J. / Vilchez, J. et al. | 2017
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Comprehensive genome analysis of Japanese patients with myofibrillar myopathyInoue, M. / Iida, A. / Noguchi, S. / Nonaka, I. / Nishino, I. et al. | 2017
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Increased cardiac muscle autophagy in a child with restrictive cardiomyopathy, proximal myopathy and neuropathy due to a mutation in the BAG3 (Pro209Leu) geneSchänzer, A. / Rupp, S. / Mall, G. / Akintürk, H. / Schramz, D. / Gulatz, L. / Thul, J. / Mazhari, N. / Hahn, A. et al. | 2017
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Translational biochemistry for dystroglycanopathiesWang, H. / Sprute, R. / Daimagüler, H. / Cirak, S. et al. | 2017
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Novel mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbsAfonso Ribeiro, J. / Almendra, L. / Rebelo, O. / Laranjeiro, F. / Marmiesse, A. / Almeida, M. / Peres, M. / Geraldo, A. / Matos, A. / Negrao, L. et al. | 2017
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Analysis of mortality in a cohort of adult Duchenne muscular dystrophyNastase, L. / Desikan, M. / Price, S. / Crummy, F. / Kahn, J. / Quinlivan, R. et al. | 2017
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Brain imaging indicates genotype-phenotype association in Duchenne muscular dystrophyDoorenweerd, N. / Bettolo, C. / Hollingsworth, K. / Hendriksen, J. / Niks, E. / Straub, V. / Kan, H. et al. | 2017
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Connexin-based hemichannels are key factors in the pathological mechanism underlying dysferlinopathyFernández, G. / Bevilacqua, J. / Cardenas, A. / Sáez, J. / Caviedes, P. / Cea, L. et al. | 2017
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Audit of unplanned hospital admissions for patients with neuromuscular disorders in Cumbria and the north east of EnglandElliott, E. / Guglieri, M. / Evangelista, T. / Lochmüller, H. / Straub, V. / Bushby, K. / Marini-Bettolo, C. et al. | 2017
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WVE-210201, an investigational stereopure oligonucleotide therapy for Duchenne muscular dystrophy, induces Exon 51 skipping and dystrophin protein restorationWood, M. / Zhang, J. / Bowman, K. / Butler, D. / Rinaldi, C. / McClorey, G. / Frank-Kamenetsky, M. / Iwamoto, N. / Kothari, N. / Lu, G. et al. | 2017
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Performance of the upper limb module for Chinese patients with Duchenne muscular dystrophy: a new useful clinical tool to monitor the disease progress and as an outcome measure for therapeutic drug trialChiu, Y. / Choi, W. / Hui, C. / Li, S. / Lee, S. / Chan, S. et al. | 2017
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CXCL12 and osteopontin from bone marrow-derived mesenchymal stromal cells improve muscle regeneration by influencing upon muscle satellite cell and myoblastMaeda, Y. / Yonemochi, Y. / Nakajyo, Y. / Hidaka, H. / Ikeda, T. / Ando, Y. et al. | 2017
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Feasibility and validation of modified oculobulbar facial respiratory score (mOBFRS) in amyotrophic lateral sclerosis (ALS) and sporadic inclusion body myositis (sIBM)Wencel, M. / Araujo, N. / Mozaffar, T. / Goyal, N. et al. | 2017
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Stunning pharmacological properties of DS-5141b, an antisense oligonucleotide consisting of 2'-O, 4'-C-ethylene-bridged nucleic acids and 2'-O-methyl RNA, on dystrophin mRNA exon skippingTakaishi, K. / Kakuta, M. / Ito, K. / Kanda, A. / Takakusa, H. / Miida, H. / Masuda, T. / Nakamura, A. / Onishi, Y. / Onoda, T. et al. | 2017
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Meta-analysis of two clinical trials with idebenone in patients with Duchenne muscular dystrophy (DMD): impact on respiratory declineMeier, T. / Leinonen, M. / Buyse, G. et al. | 2017
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A phase 2 trial of the safety and pharmacokinetics of ataluren in patients aged 2 to 5 years with nonsense mutation Duchenne muscular dystrophyRiebling, P. / Kong, R. / O'Mara, E. / Luo, X. / Trifillis, P. / Ong, T. et al. | 2017
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Regulation of facioscapulohumeral muscular dystrophy candidate protein DUX4Eidahl, J. / Hoover, M. / Branson, O. / Freitas, M. / Harper, S. et al. | 2017
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Classic congenital myopathy with recessive mutations in genes encoding ion channels: clinical phenotype and good response to acetazolamideMunot, P. / Zaharieva, I. / Hartley, L. / Phadke, R. / Sewry, C. / Feng, L. / Sud, R. / Hanna, M. / Matthews, E. / Muntoni, F. et al. | 2017
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Development of primary human satellite cells into an advanced therapeutic medicinal product (ATMP)Spuler, S. / Marg, A. / Kieshauer, J. / Schoewel, V. / Vaegler, M. et al. | 2017
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Myd & Eat: a multidisciplinary intervention for myotonic dystrophy regarding food intake and nutritionvan Hees, S. / Knuijt, S. / Dicke, H. / Satink, T. / Raaphorst, J. / Groothuis, J. / Cup, E. et al. | 2017
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Discovery of small molecule utrophin modulators for the therapy of Duchenne muscular dystrophyWynne, G. / Vuorinen, A. / Emer, E. / Conole, D. / Chatzopoulou, M. / Davies, S. / Russell, A. / Guiraud, S. / Squire, S. / Berg, A. et al. | 2017
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Utilizing transcriptome sequencing to identify causes of neuromuscular diseaseGonorazky, H. / Naumenko, S. / Ohri, K. / Ramani, A. / Brudno, M. / Dowling, J. et al. | 2017
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Update in NMD Announcement| 2017
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Antisense oligonucleotide therapies for neuromuscular disorders: where do we stand?Aartsma-Rus, A. et al. | 2017
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Neuromuscular disorders genetics: what is the best that we can do?Laing, N. et al. | 2017
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Urinary titin reveals persistent proteolysis in Duchenne muscular dystrophyAwano, H. / Matsumoto, M. / Nagai, M. / Shirakawa, T. / Maruyama, N. / Iijima, K. / Nabeshima, Y. / Matsuo, M. et al. | 2017
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Clinical epidemiology and multidimensional analysis of idiopathic inflammatory myopathies: to a classification based on myositis specific autoantibodiesMariampillai, K. / Granger, B. / Guiguet, M. / Amelin, D. / Charuel, J. / Musset, L. / Allenbach, Y. / Benveniste, O. et al. | 2017
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Immunemediated necrotizing autoimmune myopathy: Dutch and Belgian experiencede Visser, M. / De Bleecker, J. / Van der Kooi, A. / Eftimov, F. / Saris, C. / Voermans, N. / Raaphorst, J. / Lim, J. / Van Engelen, B. et al. | 2017
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A case of caveolinopathy presenting as the mounding muscle diseaseChae, S. / Kim, S. / Kim, D. / Shin, J. et al. | 2017
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Severe respiratory involvement in a young-onset limb-girdle muscular dystrophy 2A from Guinea-Bissau associated with a novel pathogenic mutationOliveira Santos, M. / Roque, R. / Conceição, I. et al. | 2017
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Random forest approach to assess relationships of subjective muscle fatty infiltration with age at clinical onset and time of disease evolution in LMNA-related muscle disordersGomez Andres, D. / Diaz Manera, J. / Gómez Garcia de la Banda, M. / Sánchez-Carpintero, A. / Alonso-Jimenez, A. / Alejaldre-Monforte, A. / Munell, F. / Carlier, R. / Quijano-Roy, S. et al. | 2017
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Scoliosis is an inescapable comorbidity in SMA type II. A single center experienceCatteruccia, M. / Colia, G. / Bonetti, A. / Carlesi, A. / Oggiano, L. / La Rosa, G. / Turturro, F. / Bertini, E. / D'Amico, A. et al. | 2017
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Segmental body composition in young children with SMA type 2: Correlation with motor function abilitiesBaranello, G. / Arnoldi, M. / Zanin, R. / Masson, R. / Mastella, C. / De Amicis, R. / Battezzati, A. / Bertoli, S. et al. | 2017
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SMA registry in RussiaVlodavets, D. / Reshetov, D. / Germanenko, O. / Artemieva, S. / Shulyakova, I. / Shidlovskaya, O. / Monakhova, A. / Vitrensky, F. / Kazakov, D. / Litvinova, E. et al. | 2017
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Muscle MRI protocol for progression evaluation in inclusion body myositis and Becker muscular dystrophy-baseline dataMaggi, L. / Pasanisi, M. / Mazzi, F. / Verri, M. / Frangiamore, R. / Moscatelli, M. / Chiapparini, L. / Mantegazza, R. / Bruzzone, M. / Aquino, D. et al. | 2017
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Gapmer antisense oligonucleotides selectively suppress the mutant allele of COL6A3 gene in dominant Ullrich congenital muscular dystrophyZhou, H. / Marrosu, E. / Ala, P. / Muntoni, F. et al. | 2017
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Collagen VI deficiency: The heart of the matterSaunier, M. / Gartioux, C. / Beuvin, M. / Mougenot, N. / Bonne, G. / Allamand, V. et al. | 2017
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Comprehensive analysis: Nonsense mutation induced exon skipping in Becker muscular dystrophyOkubo, M. / Noguchi, S. / Kimura, E. / Mitsuhashi, S. / Nishino, I. et al. | 2017
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Formation and maintenance of the neuromuscular junction: molecular mechanisms and physiological consequencesSchaeffer, L. et al. | 2017
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Basıc aspects of excitation-contraction coupling and its relation to clinical disordersAllard, B. et al. | 2017
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The impact of the national population carrier screening program on reducing birth rates of patients with spinal muscular atrophyAharoni, S. / Nevo, Y. / Orenstein, N. / Basel-Vanagaite, L. / Mussaffi, H. / Singer, A. et al. | 2017
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Exhaustive characterization of the newly developed Duchenne muscular dystrophy rat model: a unique animal model for DMD which mimics the human disease at both the muscular and the cardiac levelsHuchet, C. / Toumaniantz, G. / Larcher, T. / Fraysse, B. / Lafoux, A. / Remy, S. / Caudal, D. / Allais, M. / Amosse, E. / Anegon, I. et al. | 2017
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Palliative medicine and neuromuscular disorders in adults diseases and symptomsWillis, D. / Easthope-Mowatt, Y. / Bassie, C. / McFarlene, M. / Kulshresthra, R. / Willis, T. et al. | 2017
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6-Minute walk test as a fatigability measure in RYR1-related myopathiesWitherspoon, J. / Vasavada, R. / Waite, M. / Chrismer, I. / Jain, M. / Meilleur, K. et al. | 2017
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Hand function in boys and men with Duchenne muscular dystrophy (DMD)Hunnekens, M. / Huijben, J. / de Groot, I. et al. | 2017
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The 100-meter timed test: ability to detect change over time in Duchenne muscular dystrophyMiller, N. / Alfano, L. / Flanigan, K. / Al-Zaidy, S. / Tsao, C. / Mendell, J. / Lowes, L. et al. | 2017
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Glycemic control during fasting in patients with low skeletal muscle massAndersen, A. / Eisum, A. / Høi-Hansen, C. / Born, P. / Vissing, J. / Oerngreen, M. et al. | 2017
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From voltage sensing to gene expression in the control of muscle mass homeostasisFalcone, S. / Gentil, C. / Benedetto, C. / Traoré, M. / Ferry, A. / Piétri-Rouxel, F. et al. | 2017
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Correction of the exon 2 duplication in DMD myoblasts by a single CRISPR/Cas9 systemLattanzi, A. / Duguez, S. / Moiani, A. / Izmiryan, A. / Barbon, E. / Martin, S. / Mamchaoui, K. / Mouly, V. / Bernardi, F. / Mavilio, F. et al. | 2017
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The heart is a muscle too: the cardiomyopathy of Duchenne muscular dystrophyCripe, L. et al. | 2017
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Development of a CRISPR-based gene therapy approach targeting the large exon 45-exon 55 mutation hotspot in DMD geneBellec-Dyèvre, J. / Lostal, W. / Bernard, E. / Cosette, J. / Richard, I. et al. | 2017
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Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophySeferian, A. / Quicke, G. / Gargaun, E. / Moraux, A. / Gillabert, S. / Lilien, C. / Gasnier, E. / Che, V. / Gidaro, T. / Annoussamy, M. et al. | 2017
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Movement disorders hidden in the neuromuscular clinicReimann, J. / Paus, S. et al. | 2017
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Morphological spectrum of RYR1 recessive myopathies: Clinical and genetic correlation.Garibaldi, M. / Rendu, J. / Lacene, E. / Brochier, G. / Beuvin, M. / Labasse, C. / Madelaine, A. / Borsato, F. Levy / Vassilopoulos, S. / Bevilacqua, J. et al. | 2017
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Genetic Landscape of congenital myasthenic syndroms from Turkey: novel mutations and clinical insightsYiş, U. / Becker, K. / Kurul, S. / Uyanik, G. / Bayram, E. / Haliloglu, G. / Polat, I. / Ayanoglu, M. / Okur, D. / Tosun, A. et al. | 2017
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Evaluation of skeletal muscle in patients with Fukuyama congenital muscular dystrophy (FCMD) using bioelectrical impedance analysisMurakami, T. / Ishigai, K. / Ishiguro, K. / Sato, T. / Shichiji, M. / Ikeda, M. / Nagata, S. / Uchida, T. / Kuru, S. / Nakayama, T. et al. | 2017
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Computational alignment of duplex immunohistochemically-stained muscle sections in support of therapies for Duchenne muscular dystrophyCerkovnik, L. / Patterson-Kane, J. / Ryall, K. / Milici, A. / Tinsley, J. / Moore, S. / Faelan, C. et al. | 2017
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A common CHRNE mutation (c.130dupG) in Brazilian patients with congenital myasthenic syndromeEstephan, E. / Silva, A. / Mendonça, R. / Caldas, V. / Zambon, A. / Marchiori, P. / Heise, C. / Reed, U. / Zanoteli, E. et al. | 2017
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A novel mutation in AGRN gene causing congenital myasthenic syndrome with distal myopathyBamaga, A. / Al-Lozi, M. / Weihl, C. et al. | 2017
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Daily versus weekend steroid use in DMD: age at loss of ambulation is equivalent in a retrospective patient cohortWaldrop, M. / Kaminoh, J. / Moore-Clingenpeel, M. / Flanigan, K. et al. | 2017
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Osteopontin expression during chronic and acute muscle injuryTasaki, L. / Ishiba, R. / Ayub-Guerrieri, D. / Almeida, C. / Fernandes, S. / Ribeiro, A. / Galleni, L. / Souza, L. / Santos, A. / Vainzof, M. et al. | 2017
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A novel drug screening approach to identify new drug candidates for the treatment of Duchenne muscular dystrophyHick, A. / Prokic, I. / Bousson, F. / Fugier, C. / Gobert, B. / Hestin, M. / Riguet, E. / Cherrier, T. / Chal, J. / Pourquie, O. et al. | 2017
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A clinical update on the eNHANCE project: Eye tracking control for reaching and grasping in an adolescent Duchenne muscular dystrophy (DMD) populationPitchforth, J. / Iodice, M. / Main, M. / Dziemian, S. / Faisal, A. / Bergsma, A. / Muntoni, F. et al. | 2017
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Tubular aggregate myopathy with dystrophic featuresLee, J. / Yoshimura, M. / Hirano, R. / Miyatake, S. / Koshimizu, E. / Matsumoto, N. / Mori, H. / Tachii, N. / Suzuki, M. / Ogata, K. et al. | 2017
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A mouse model with compound heterozygous nebulin mutations recapitulates the typical form of nemaline myopathyLaitila, J. / McNamara, E. / Goullee, H. / Lawlor, M. / Ochala, J. / Griffiths, L. / Ravenscroft, G. / Sewry, C. / Laing, N. / Wallgren-Pettersson, C. et al. | 2017
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KHLH40 mutations causing severe neonatal nemaline myopathyWillis, T. / Kulshrestha, R. / Sewry, C. et al. | 2017
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Retinal abnormalities in FSHDGoselink, R. / van Kernebeek, C. / Schreur, V. / Erasmus, C. / Voermans, N. / Theelen, T. / van Engelen, B. et al. | 2017
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Short term estradiol administration improves muscle funcion, decreases CK levels and upregulates p75 neurotrophin receptor in mdx miceMunell, F. / Aparicio, S. Ferrer / Saez, E. Martínez / Pérez-Garcia, M. et al. | 2017
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Venous thromboembolism in adult patients with inherited myopathies: a high-risk in myotonic dystrophyWahbi, K. / Sochala, M. / Porcher, R. / Stojkovic, T. / Behin, A. / Leonard Louis, S. / Laforêt, P. / Bassez, G. / Eymard, B. / Duboc, D. et al. | 2017
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Heart in laminopathiesMuchir, A. et al. | 2017
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Two different NGS approaches to address molecular diagnosis of congenital neuromuscular diseasesGonzalez-Quereda, L. / Rodriguez, M. / Nascimento, A. / Ortez, C. / Jou, C. / Milisenda, J. / Diaz-Manera, J. / Jerico, I. / Tejada, I. / Gallano, P. et al. | 2017
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Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history studyAnnoussamy, M. / Lilien, C. / Gidaro, T. / Gargaun, E. / Chê, V. / Schara, U. / D'Amico, A. / Daron, A. / Cuisset, J. / Mayer, M. et al. | 2017
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Late-onset limb-girdle myopathy with oculobulbar signs and rimmed vacuoles associated with a novel Pompe disease mutationOliveira Santos, M. / Taipa, R. / Pires, M. / Conceição, I. et al. | 2017
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New myotubular myopathy classificationLilien, C. / Annoussamy, M. / Gidaro, T. / Gargaun, E. / Chê, V. / Schara, U. / D'Amico, A. / Daron, A. / Cuisset, J. / Mayer, M. et al. | 2017
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Macrophagic myofasciits-associated cognitive dysfunction: A reappraisal of neuropsychological profileAoun-Sebaiti, M. / Danini, L. / Derosin, M. / Kauw, P. / Bachoud-Levi, A. / Authier, F. et al. | 2017
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Differential type I and type II interferon signatures in primary inflammatory/dysimmune myopathiesRigolet, M. / Hou, C. / Periou, B. / Muhammad, P. / Gherardi, R. / Baba Amer, Y. / Authier, F. et al. | 2017
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Genetic characterization of a French cohort of GNE-mutation negative inclusion body myopathy patients using exome sequencingCerino, M. / Gorokhova, S. / Laforêt, P. / Ben Yaou, R. / Salort-Campana, E. / Pouget, J. / Attarian, S. / Eymard, B. / Deleuze, J. / Boland, A. et al. | 2017
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Clinical and histopathological characterization of the first French case of MATR3-related distal myopathyLaforêt, P. / Malfatti, E. / Metay, C. / Jobic, V. / Carlier, R. et al. | 2017
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Turnover studies on DNAJB6 and the CASA pathway proteinsSarparanta, J. / Kawan, S. / Jonson, P. / Udd, B. et al. | 2017
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AAV9-mediated SMN expression restricted to the CNS does not rescue SMA miceBesse, A. / Roda, M. / Astord, S. / Marais, T. / Biferi, M. / Barkats, M. et al. | 2017
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Referrals to psychology within a neuromuscular service: what do patients want to talk about?Pattni, J. / Clark, H. / Desikan, M. / Scalco, R. / Quinlivan, R. et al. | 2017
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Spatially localized phosphorous metabolism of skeletal muscle in Duchenne muscular dystrophy patients: 24-month follow-upHooijmans, M. / Doorenweerd, N. / Baligand, C. / Verschuuren, J. / Ronen, I. / Webb, A. / Niks, E. / Kan, H. et al. | 2017
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Nuclear magnetic resonance relaxometry characterization of D2-mdx miceMartins-Bach, A. / Araujo, E. / Matot, B. / Fromes, Y. / Baudin, P. / Richard, I. / Carlier, P. et al. | 2017
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Utilization of corticosteroids in DuchenneConnect registry participantsCowen, L. / Mancini, M. / Lucas, A. / Martin, A. / Lavigne, J. / Donovan, J. et al. | 2017
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Mitochondrial disorders in adults: clinical and genetic correlations in ten patients with nuclear DNA mutationsKierdaszuk, B. / Kaliszewska, M. / Tonska, K. / Bartnik, E. / Kaminska, A. / Kostera-Pruszczyk, A. et al. | 2017
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Increased blood pressure and BMI in relation to cardiomyopathy in Duchenne muscular dystrophyvan de Velde, N. / van Zwet, E. / Roest, A. / Niks, E. et al. | 2017
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Insights into the genesis of a brain and muscle disorder caused by a novel mutation in MICU1Roos, A. / Topf, A. / Phan, V. / Gonzalez Coraspe, J. / Hauessler, M. / Weis, J. / Lochmüller, H. / Kohlschmidt, N. et al. | 2017
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Limb girdle muscular dystrophy type 2I: Lack of correlation between clinical severity, histopathological alterations and levels of glycosylated α-dystroglycan in patients homozygous for the common FKRP mutationLindal, S. / Alhamidi, M. / Brox, V. / Stensland, E. / Liset, M. / Nilssen, O. et al. | 2017
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Insights into bone mineral density and bone metabolism in Duchenne muscular dystrophySframeli, M. / Vita, G. / Catalano, A. / Distefano, M. / La Rosa, M. / Barcellona, C. / Bonanno, C. / Nicocia, G. / Profazio, C. / Morabito, N. et al. | 2017
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A mouse with exon 9 deletion in Col6a1 as a model for dominant collagen VI-related disordersNoguchi, S. / Ogawa, M. / Nishino, I. et al. | 2017
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A possible new phenotype associated with variants in COL6A2 geneLehtinen, S. / Penttilä, S. / Suominen, T. / Väisänen, A. / Weinberg, J. / Solders, G. / Arumilli, M. / Hackman, P. / Udd, B. et al. | 2017
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Study on factors related to general condition and prognosis of patients with Duchenne muscular dystrophySaito, T. / Ogata, K. / Takahashi, T. / Kobayashi, M. / Takada, T. / Kuru, S. / Mikata, T. / Matsumura, T. / Fukudome, T. / Funato, M. et al. | 2017
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Adeno associated vector-based gene therapy strategy for type 3 glycogen storage diseaseVidal, P. / Ronzitti, G. / Collaud, F. / Sola, M. Simon / Collela, P. / Puzzo, F. / Verdera, H. Costa / Charles, S. / Vignaud, A. / Van Wittenberghe, L. et al. | 2017
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Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cellsGonzález-Jamett, A. / Baez-Matus, X. / Bui, M. / Guicheney, P. / Romero, N. / Caviedes, P. / Bitoun, M. / Bevilacqua, J. / Cárdenas, A. et al. | 2017
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Are muscle volume and echo-intensity related to rate of force development in children with Duchenne muscular dystrophy?Goudriaan, M. / Schless, S. / Cenni, F. / van den Hauwe, M. / Goemans, N. / Desloovere, K. et al. | 2017
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Alternative splicing in titin: new insights into exon usageSavarese, M. / Jonson, P. / Huovinen, S. / Auvinen, P. / Hackman, P. / Udd, B. et al. | 2017
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Design of a phase 3 trial to evaluate the long-term efficacy and safety of ataluren in patients with nonsense mutation Duchenne muscular dystrophyRiebling, P. / O'Mara, E. / Luo, X. / Trifillis, P. / Ong, T. et al. | 2017
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Neuron-derived hiPSC: an in vitro model for the development of a gene therapy for myotonic dystrophy type 1benichou, S. Ait / Jauvin, D. / Arzoumanov, A. / Varela, M. / Bennett, C. / Gait, M. / Wood, M. / Puymirat, J. et al. | 2017
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Optimization and implementation of best practices for collection and preparation of muscle biopsies for analysis during clinical trials of neuromuscular disease therapeuticsFrank, D. / Dworzak, J. / Lawlor, M. / Lewis, S. / Sahenk, Z. / Stewart, M. / Kincaid, C. / Sewry, C. / Feng, L. / Phadke, R. et al. | 2017
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Exercise profile in patients with SLC2A9 homozygous mutation and a history of exercise induced kidney failureScalco, R. / Manole, A. / Chatfield, S. / Booth, S. / Wigley, R. / Pattni, J. / Michalak, Z. / Desikan, M. / Godfrey, R. / Houlden, H. et al. | 2017