P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement (English)
- New search for: Ravenscroft, c. u.
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- New search for: Charles, A. K.
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In:
NEUROMUSCULAR DISORDERS
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21
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691
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2011
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ISSN:
- Article (Journal) / Print
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Title:P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movement
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Contributors:Ravenscroft, c. u. ( author ) / Sollis, E. ( author ) / Charles, A. K. ( author ) / Fabian, V. A. ( author ) / North, K. N. ( author ) / Baynam, G. ( author ) / Laing, N. G. ( author )
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Published in:NEUROMUSCULAR DISORDERS ; 21, 9-10 ; 691
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Publisher:
- New search for: Elsevier Science B.V., Amsterdam.
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Publication date:2011-01-01
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Size:691 pages
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ISSN:
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Type of media:Article (Journal)
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Type of material:Print
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Language:English
- New search for: 616.83
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Classification:
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© Metadata Copyright the British Library Board and other contributors. All rights reserved.
Table of contents – Volume 21, Issue 9-10
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 603
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Title| 2011
- 604
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Welcome to the World Muscle Society Congress in Portugal| 2011
- 607
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16th WMS Congress - 2011 - Programme (Summary)| 2011
- 610
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Programme of the 16th WMS Congress - 2011| 2011
- 639
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D.I.2 Role of miRNA in muscle differentiation and in Duchenne Muscular DystrophyBozzoni, c. u. / Cacchiareli, D. / Martone, J. / Cesana, M. / Cazzella, V. / Pinnaro, C. / Legnini, I. et al. | 2011
- 639
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D.I.3. Managing the heart in muscular dystrophyMcNally, c. u. et al. | 2011
- 639
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D.I.1 Dystroglycan phosphorylation as a therapeutic target for DMDMoore, C. / Mitchell, A. / Riviere, T. L. / Lipscombe, L. / Piggott, R. / Parkin, C. / Miller, G. / Winder, c. u. et al. | 2011
- 640
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D.I.4 Satellite cells and skeletal muscle regenerationMorgan, c. u. et al. | 2011
- 640
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O.2 Dystrophin-deficient muscular dystrophy in a pedigree of Labrador retrievers without obvious clinical manifestationsShelton, c. u. / Vieira, N. / Guo, L. T. / Bennett, R. / Kunkel, L. / Zatz, M. et al. | 2011
- 640
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O.1 Pre-clinical studies with human adult mesenchymal stem-cells: What have we learned?Zatz, c. u. / Vieira, N. M. / Valadares, M. / Secco, M. / Zucconi, E. / Bueno, C. J. / Brandalise, V. / Assoni, A. / Gomes, J. / Landini, V. et al. | 2011
- 641
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O.4 Forelimb loco-regional injection of rAAV8-U7snRNA in GRMD dogs allows dose-dependant dystrophin expression and phenotypic correctionServais, c. u. / Le Guiner, C. / Montus, M. / Garcia, L. / Fromes, Y. / Hogrel, J. Y. / Carlier, P. / Cherel, Y. / Moullier, P. / Voit, T. et al. | 2011
- 641
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P1.1 Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotypeWitting, c. u. / Dunoe, M. D. / Vissing, J. V. et al. | 2011
- 641
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O.3 Identification of a novel therapeutic pathway for Duchenne muscular dystrophy through utilization of the zebrafish model sapjeWaugh, T. W. / Dowling, c. u. et al. | 2011
- 642
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P1.2 Phenotypic profile of dystrophinopathy patients with deletion of exons 3-7 of the dystrophin geneWong, c. u. / Hu, S. Y. / Morehart, P. / Cripe, L. H. / Walker, M. E. et al. | 2011
- 642
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P1.3 Spectrum of point mutations in Czech DMD/BMD patients and their phenotypic outcomeHermanova, c. u. / Zapletalova, E. / Sedlackova, J. / Zamecnik, J. / Vondracek, P. / Fajkusova, L. et al. | 2011
- 642
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P1.4 Molecular profile of 307 Portuguese patients with dystrophinopathy, including 39 new variantsdos Santos, M. R. / Goncalves, c. u. / Vieira, E. M. / Santos, M. / Fineza, I. / Moreno, T. / Vieira, J. P. / Bronze-da-Rocha, E. et al. | 2011
- 643
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P1.8 The effect of joint hypermobility on children with neuromuscular disorders: Considerations for natural history studies and the interpretation of outcome measuresMain, c. u. / Selby, V. / Muntoni, F. et al. | 2011
- 643
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P1.6 The incidence of revertant and trace dystrophin expression in muscle biopsies of Duchenne Muscular Dystrophy patients with different exon deletionsLourbakos, c. u. / Sipkens, J. / Beekman, C. / Kreuger, D. / Brasz, L. / Janson, A. / Campion, G. / van Deutekom, J. / de Kipme, S. et al. | 2011
- 643
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P1.7 Early death following minor trauma in Duchenne muscular dystrophyMcAdam, c. u. / Macleod, K. / Vajsar, J. / Biggar, W. D. / Rastogi, A. et al. | 2011
- 643
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P1.5 Expression of dystrophin-glycoprotein complex (DGC) in muscles from DMD patients: Overview of 80 cases (9days-12years of age)Li, c. u. / Zhao, L. / Wu, Y. / Liu, Q. / Ji, X. et al. | 2011
- 644
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P1.10 Comparative pharmacokinetics (PK) in primates and humans of AVI-4658, a phosphorodiamidate morpholino oligomer (PMO) for treating DMD patientsShrewsbury, c. u. / Sazani, P. / Muntoni, F. et al. | 2011
- 644
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P1.11 Comparison between courses of home mechanical ventilation patients with muscular dystrophy and mechanical ventilation inpatientsSaito, c. u. / Tatara, K. / Shinno, S. / Sakoda, S. / Fujimura, H. et al. | 2011
- 644
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P1.9 Glucocorticoid therapy in a non-ambulant six year old boy with Duchenne muscular dystrophySchara, c. u. / Sprinz, A. / Lutz, S. et al. | 2011
- 645
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P1.12 Duchenne muscular dystrophy and optoelectronic plethysmography: A longitudinal study of respiratory functionD'Angelo, c. u. / Romei, M. / Lo Mauro, A. / Marchi, E. / Gandossini, S. / Bonato, S. / Colombo, D. / Turconi, A. C. / Pedotti, A. / Bresolin, N. et al. | 2011
- 645
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P1.13 Respiratory pattern during water swallowing in patients with Duchenne muscular dystrophy and myotonic dystrophy type 1Nozaki, c. u. / Sugishita, S. / Umaki, Y. / Matsumura, T. / Tatara, K. et al. | 2011
- 645
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P1.14 Cardiac transplantation in Duchenne muscular dystrophy: A case reportCripe, c. u. / Kinnett, K. / Uzark, K. / Eghtesady, P. / Wong, B. / Spicer, R. et al. | 2011
- 646
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P1.15 Left ventricular torsion analysis in Duchenne Muscular DystrophyDubrovsky, c. u. / Guevara, E. / Locatelli, P. / Mesa, L. / Jauregui, A. et al. | 2011
- 646
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P1.16 The heart in Duchenne muscular dystrophy: The Cincinnati experienceHor, K. / Cripe, c. u. / Taylor, M. / Jefferies, J. L. / Mazur, W. / Benson, D. W. et al. | 2011
- 646
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P1.18 Dystrophinopathy in manifesting female carriers: Clinical and genetic characterization in a cohort of 20 patientsJuan-Mateu, J. / Verdura, E. / Rodriguez, M. J. / Gonzalez-Quereda, L. / Colomer, J. / Diaz-Manera, J. / Gallardo, E. / Gonzalez-Mera, L. / Macaya, A. / Munell, F. et al. | 2011
- 646
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P1.17 A longitudinal analysis of cause-of-death in patients with Duchenne muscular dystrophy in Toneyama National HospitalMatsumura, c. u. / Saito, T. / Fujimura, H. / Shinno, S. / Sakoda, S. et al. | 2011
- 647
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P1.20 Complete X-inactivation of the maternally X-chromosome in a girl with Duchenne muscular dystrophy and severe mental retardationMunell, c. u. / Juan, J. / Gallano, P. / Miguel, S. / Vidal, M. / Macaya, A. / Roig, M. / Melendez, M. et al. | 2011
- 647
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P1.19 Whole genetic and protein characterisation in DMD symptomatic female carriers excludes correlation with X-inactivation and transcriptional DMD allele balancingGualandi, c. u. / Brioschi, S. / Falzarano, M. S. / Bovolenta, M. / Armaroli, A. / Trabanelli, C. / Rimessi, P. / Merlini, L. / Mercuri, E. / Pane, M. et al. | 2011
- 647
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P1.21 Dystrophinopathy in girls due to X-autosome translocationsBrandao, c. u. / Abe, K. T. / Monteiro, A. / Antunes, J. S. / Formigli, L. M. / Schneider, M. / Martins, C. E. / Carvalho, D. R. / Oliveira, I. M. / Silva, C. C. et al. | 2011
- 648
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P1.24 Microarray analysis of two exceptional Golden Retriever Muscular Dystrophy (GRMD) dogs with no dystrophin and a mild courseVieira, N. M. / Moreira, Y. / Zucconi, E. / Valadares, M. / Vainzof, M. / Verjovsky-Almeida, S. / Zatz, c. u. et al. | 2011
- 648
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P1.23 The effects of low dystrophin levels on muscle function and pathologyvan Putten, c. u. / Hulsker, M. A. / van Heiningen, S. H. / van Huizen, E. / van Iterson, M. / Admiraal, P. / Messemaker, T. / Dunnen, J. T. / Nadarajah, V. D. et al. | 2011
- 648
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P1.22 Low dystrophin levels improve life expectancy, phenotype and functional performance in the mdx/utrn -/- mousevan Putten, c. u. / Hulsker, M. A. / van Heiningen, S. H. / Nadarajah, V. D. / Hoen, P. A. / van Ommen, G. J. / Aartsma-Rus, A. M. et al. | 2011
- 649
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P1.28 Dystrophin mediates melanocytes attachment to dermal-epidermal junction in human skinPellegrini, C. / Gualandi, F. / Manzati, E. / Merlini, L. / Michelini, M. E. / Benassi, L. / Ferlini, A. / Maraldi, N. M. / Sabatelli, c. u. et al. | 2011
- 649
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P1.26 A comparison of metabolism and protein synthesis rates in young and adult dystrophic mdx and control C57Bl/10 miceRadley-Crabb, c. u. / Grounds, M. D. / Fiorotto, M. L. et al. | 2011
- 649
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P1.27 Mutation-directed studies on the function of the dystrophin ZZ domainVulin, c. u. / Maiti, B. / Taylor, L. / Kaminoh, Y. / Simmons, T. / Flanigan, K. M. et al. | 2011
- 649
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P1.25. Localization of chemokines and their receptors in muscle tissues from Duchenne muscular dystrophy patientsDe Bleecker, c. u. / Creus, K. K. / Martin, J. J. / De Paepe, B. et al. | 2011
- 650
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P1.30 Calcium sparks as dystrophic signals are present in GRMD musclesLacampagne, A. / Barthelemy, I. / Thibaud, J. L. / Blanchard-Gutton, N. / Unterfinger, Y. / Richard, S. / Ward, C. W. / Blot, c. u. et al. | 2011
- 650
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P1.29 SOC, SAC, iPLA2 and NOX involvement in abnormal calcium handling and muscle function in isolated fast and slow dystrophic musclesIsmail, c. u. / Dufour, V. / Dorchies, O. M. / Ruegg, U. T. et al. | 2011
- 650
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P1.31 Outcome measures in animal models of mild spinal muscular atrophy and duchenne muscular dystrophy: Introducing a novel standardized physical activity paradigm and a proprietary in vivo behavior screening platform (SmartCube) in adult rodentsEl-Khodor, B. F. / Patry, M. / Kudwa, A. / Chen, A. / Gomez, D. / Jimenez, J. / Simmons, M. B. / Jimenez, Y. / McEwen, C. / Dolguikh, M. et al. | 2011
- 651
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P1.33 Disease progression observed in clinical outcome measures in placebo-treated patients with nonsense mutation dystrophinopathyMercuri, c. u. / Bushby, K. / McDonald, C. / Goemans, N. / Muntoni, F. / Darras, B. T. / Elfring, G. L. / Barth, J. / Reha, A. / Peltz, S. W. et al. | 2011
- 651
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P1.32 Comparison of quantitative strength measures in boys with DMD: HHM vs. CQMSDuong, c. u. / Cnaan, A. / Hu, F. / Leshner, R. et al. | 2011
- 651
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P1.34 Body mass index (BMI) and growth in Duchenne Muscular Dystrophy (DMD)Guglieri, c. u. / Smith, J. / Eagle, M. / Scott, E. / Griggs, R. / Bushby, K. et al. | 2011
- 652
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P1.37 Total energy expenditure (TEE) of patients with Duchenne muscular dystrophyKomaki, c. u. / Takata, K. I. / Takanoha, S. / Mizuno, T. / Matsumura, T. / Shinno, S. / Kuru, S. / Tatara, K. / Sasaki, M. / Tanaka, S. et al. | 2011
- 652
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P1.35 Health-related quality of life in patients with Duchenne Muscular DystrophySchara, c. u. / Geers, B. / Schmid, J. / Elsenbruch, S. et al. | 2011
- 652
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P1.38 ENDOMUS: "Clinical and diagnostic characterization of patients with neuromuscular disorders" - Epidemiologic studyEvangelista, c. u. / Lacerda, L. / Santos, R. et al. | 2011
- 652
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P1.36 Evaluation of the quality of life in patients with Duchenne Muscular DystrophySimon, V. A. / Simon, M. A. / Godoy, c. u. / Resende, M. B. / Zanoteli, E. / Reed, U. C. et al. | 2011
- 653
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P1.41 Design of a multi-center study to examine skeletal muscles of children with Duchenne muscular dystrophy using MRI/MRSForbes, c. u. / Walter, G. A. / Rooney, W. D. / Wang, D. J. / DeVos, S. / Pollaro, J. / Triplett, W. / Lott, D. J. / Senesac, C. / Daniels, M. J. et al. | 2011
- 653
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P1.40 Maximum isometric muscle force obtained by hand-held dynamometry in a healthy and eutrophic pediatric populationEscobar, c. u. / Munoz, K. / Banados, P. / Robles, A. et al. | 2011
- 653
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P1.39 Contribution of accelerometry to gait analysis during the six-minute walk testMoraux, c. u. / Ledoux, I. / Decostre, V. / Canal, A. / Hogrel, J. Y. et al. | 2011
- 654
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P1.43 Dual-echo dual flip angle gradient-echo MRI technique for quantification of muscle fat fraction in Duchenne muscular dystrophy: A new valuable outcome measureMessina, S. / Vita, c. u. / Rodolico, C. / Toscano, A. / Gaeta, M. / Mileto, A. et al. | 2011
- 654
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P1.44 Development of heart failure in mice with low dystrophin levelsvan der Pijl, c. u. / van Putten, M. / Nadarajah, V. D. / van Opstal, A. M. / Hulsker, M. A. / van der Weerd, L. / Aartsma-Rus, A. M. et al. | 2011
- 654
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P1.42 Inter- and intra muscle fat fraction variability in DMD patientsWokke, c. u. / van den Bergen, J. / Bos, C. / Webb, A. / Ginjaar, I. / Aartsma-Rus, A. / Verschuuren, J. / Kan, H. et al. | 2011
- 655
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P1.45 Application of NMR spectroscopy in the study of mdx mouseMartins-Bach, c. u. / Bloise, A. C. / Rabbani, S. R. / Vainzof, M. et al. | 2011
- 655
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P1.46 Quantification of immunofluorescent signal intensity in dystrophinopathy muscle specimensTaylor, L. / Kaminoh, Y. / Rodesch, C. / Flanigan, c. u. et al. | 2011
- 655
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P1.47 CD49d is a disease biomarker and a potential therapeutic target in Duchenne muscular dystrophyMariz, c. u. / Carvalho, L. R. / Araujo, A. P. / de Mello, W. / Ribeiro, M. G. / Cunha, M. C. / Riederer, I. / Negroni, E. / Mouly, V. / Voit, T. et al. | 2011
- 656
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P1.50 Predictive markers of clinical outcome in the GRMD dog model of Duchenne muscular dystrophyPinto Mariz, c. u. / Barthelemy, I. / Yada, E. / Voit, T. / Silva-Barbosa, S. D. / Savino, W. / Butler-Browne, G. / Blot, S. et al. | 2011
- 656
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P1.51 Serum protein profiling in mouse models with Dystrophin deficiency using bead-fractionation, MALDI-MS and linear regressionOonk, c. u. / Nadarajah, V. D. / van Putten, M. / Dalebout, H. / van der Burgt, Y. E. / Aartsma-Rus, A. M. / Deelder, A. M. / den Dunnen, J. T. / van Ommen, G. B. et al. | 2011
- 656
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P1.48 Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progressionNadarajah, V. D. / van Putten, M. / Chaouch, A. / Garrood, P. / Straub, V. / Ginjaar, H. B. / Aartsma-Rus, A. M. / van Ommen, G. J. / Dunnen, J. T. et al. | 2011
- 656
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P1.49 Mass spectrometry based clinical proteomics for biomarker discovery in Duchenne muscular dystrophyMartin, c. u. / Oonk, S. / Nadarajah, V. D. / Chaouch, A. / Lochmuller, H. / Dalebout, H. / der Burgt, Y. E. / Palmblad, M. / Deelder, A. M. et al. | 2011
- 657
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P1.52 BIO-NMD: Discovery and validation of biomarkers for neuromuscular diseases (NMDs) - An EU funded FP7 projectStraub, c. u. / Aartsma-Rus, A. / Al-Khalili Szigyarto, C. / Beroud, C. / Bonaldo, P. / Borgiani, P. / Braghetta, P. / Chaouch, A. / Cirak, S. / Courtot, L. et al. | 2011
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P1.54 Rehabilitation equipment use reported by families of patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the muscular dystrophy surveillance, tracking and research network (MDSTARNet)Pandya, c. u. / Campbell, K. / Andrews, J. / Meaney, F. J. / Cunniff, C. / Druschel, C. / Miller, L. / Romitti, P. et al. | 2011
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P1.53 Rehabilitation therapy services received by patients with Duchenne/Becker muscular dystrophy (DBMD): Data from the muscular dystrophy surveillance, tracking and research network (MDSTARNet)Pandya, c. u. / Campbell, K. / Andrews, J. / Meaney, F. J. / Cunniff, C. / Druschel, C. / Miller, L. / Romitti, P. et al. | 2011
- 658
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P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic populationAstrea, c. u. / Pecini, C. / Gasperini, F. / Fiorillo, C. / Bruno, C. / Cioni, G. / Politano, L. / Santorelli, F. M. / Battini, R. et al. | 2011
- 658
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P1.55 Assisted bicycle training delays physical deterioration in boys with Duchenne muscular dystrophy: Results of the randomized controlled trial "no use is disuse"Jansen, c. u. / van Alfen, N. / Geurts, A. C. / de Groot, I. J. et al. | 2011
- 658
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P1.56 Submaximal exercise effects on mdx mouse modelDuong, c. u. / Iantorno, M. / Sali, A. / Gordish, H. / Hoffman, E. / Nagaraju, K. et al. | 2011
- 659
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P1.60 The effects of psychoanalysis in neuromuscular disordersForbes, J. / Genesini, c. u. / Riolfi, C. / Lise, L. / Macedo, E. / Rudiger, D. / Zatz, M. et al. | 2011
- 659
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P1.58 Parental stress levels in parents of children with muscular dystrophyEasthope-Mowatt, Y. / Griggs, H. / Quinlivan, c. u. et al. | 2011
- 659
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P1.59 Pre-diagnostic parent experiences in Duchenne and Becker muscular dystrophies, congenital muscular dystrophies, and spinal muscular atrophies: A survey of the national task force for the early identification of childhood neuromuscular disordersPeay, c. u. / Mathews, K. et al. | 2011
- 660
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P1.62 What is the best age at which to perform population screening for Duchenne muscular dystrophy?Bayley, K. / Laing, c. u. et al. | 2011
- 660
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P1.61 Physicians ability to recognize Duchenne muscular dystrophy on clinical basis: Need for educational programsMaluf, c. u. / Vilas Boas, M. G. / Soneghet, R. P. / Idealli, G. / Moraes, C. L. / Cortez, M. S. / Godoy, A. J. et al. | 2011
- 660
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P2.1 Candidate biomarkers in merosin-deficient congenital muscular dystrophyCollins, c. u. / Hu, S. / Devarajan, P. / Bonnemann, C. G. / Bennett, M. et al. | 2011
- 660
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P1.63 How to deal with unexpected mutations in healthy personsZatz, c. u. / Pavanello, R. C. / Lazar, M. / Rocha, K. M. / Takahashi, V. N. / Vainzof, M. et al. | 2011
- 661
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P2.3 Monoamine oxidase inhibitors reduce mitochondrial ROS accumulation and dysfunction in patients with collagen VI myopathiesMenazza, S. / Zulian, A. / Sabatelli, P. / Maraldi, N. M. / Merlini, L. / Bonaldo, P. / Bernardi, P. / Di Lisa, F. / Canton, c. u. et al. | 2011
- 661
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P2.4 Searching for pulmonary outcome measures in 'Early Onset' COL6-related myopathyWehbi, c. u. / Essid, N. / Brinas, L. / Leclair-Richard, D. / Viollet, L. / Romero, N. B. / Richard, P. / Allamand, V. / Estournet, B. / Quijano-Roy, S. et al. | 2011
- 661
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P2.2 A benign form of MDC1A in Korean siblings with a novel LAMA2 mutationHuh, c. u. / Park, Y. E. / Kim, D. S. et al. | 2011
- 662
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P2.5 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trialsFoley, c. u. / Quijano-Roy, S. / Collins, J. / Straub, V. / Deconinck, N. / Mercuri, E. / D'Amico, A. / Bertini, E. / North, K. / Ryan, M. et al. | 2011
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P2.6 Muscle fibre atrophy and myogenesis co-exist in collagen VI deficient musclePaco, S. / Ferrer, I. / Jou, C. / Cusi, V. / Corbera, J. / Colomer, J. / Nascimento, A. / Jimenez-Mallebrera, C. et al. | 2011
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P2.7 Collagen VI alpha5 and alpha6 chains expression in human muscleSabatelli, c. u. / Martoni, E. / Gara, S. K. / Squarzoni, S. / Zamparelli, A. / Paulsson, M. / Wagener, R. / Gualandi, F. / Pellegrini, C. / Merlini, L. et al. | 2011
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P2.9 LMNA-related congenital muscular dystrophy: Clinical, pathological and molecular findingsMonges, c. u. / Lubieniecki, F. / Quijano-Roy, S. / Saccoliti, M. / Romero, N. B. / Richard, P. / Taratuto, A. L. et al. | 2011
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P2.10 A new form of congenital muscular dystrophy with subsarcolemmal inclusions arising from disintegrated myonucleiTaratuto, A. L. / Nelson, I. / Olive, M. / Waisburg, H. / Saccoliti, M. / Beuvin, M. / Chauveau, D. / Richard, P. / Voit, T. / Bonne, G. et al. | 2011
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P2.8 Congenital muscular dystrophy with intracytoplasmatic aggregates on muscle biopsy caused by mutation on LMNA genePasqualin, L. M. / Zanoteli, E. / Albuquerque, M. A. / Martins, C. A. / Neto, O. L. / Resende, M. B. / Chadi, G. / Reed, c. u. et al. | 2011
- 664
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P2.13 Further characterization of the clinical and mutational spectrum of alpha-dystroglycanopathy caused by mutations in the LARGE geneMeilleur, c. u. / Medne, L. / Hu, Y. / Perkins, K. / Powell-Hamilton, N. / Finkel, R. / Scavina, M. / Bonnemann, C. et al. | 2011
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P2.12 Generation of a new mouse model for therapeutic testing in the dystroglycanopathiesWhitmore, C. / Ackroyd, M. R. / Ashraf, A. / Alyoshkin, B. / Muntoni, F. / Brown, c. u. et al. | 2011
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P2.11 A new form of myopathy associated with muscle hypertrophy, short stature, macroglossia and brachydactylyVainzof, c. u. / Gurgel-Giannetti, J. / Bertola, D. / Pavanello, R. C. / Oliveira, A. B. / Rosenberg, C. / Kok, F. / C.F., A. / Martins-Bach, A. B. / Zatz, M. et al. | 2011
- 665
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P2.15 Assessing the therapeutic potential of LARGE in a new mouse model of dystroglycanopathyWhitmore, C. / Ackroyd, M. R. / Muses, S. / Ashraf, A. / Muntoni, F. / Brown, S. C. / Wells, c. u. et al. | 2011
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P2.14 The versatility of flow cytometry in the assessment of functional alpha-dystroglycan glycosylationStevens, c. u. / Torelli, S. / Tinsley, J. / Muntoni, F. et al. | 2011
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P2.17 Fukutin-related protein resides in the Golgi cisternae of human skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction interfaceAlhamidi, c. u. / Kjeldsen Buvang, E. / Fagerheim, T. / Brox, V. / Lindal, S. / Van Ghelue, M. / Nilssen, O. et al. | 2011
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P2.16 Deposition of the inner limiting membrane in the eye of a mouse model for Muscle Eye Brain diseaseWhitmore, C. / Ackroyd, M. R. / Ashraf, A. / Brown, c. u. et al. | 2011
- 666
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P2.20 Fukuyama congenital muscle dystrophy: A rare mutationCosta, C. P. / Fineza, c. u. et al. | 2011
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P2.18 Heterozygous mutations in putative glycosyltransferase modulating the severity of the phenotype of muscular dystrophiesMartins-Machado, c. u. / Yamamoto, L. U. / Onofre-Oliveira, P. / Ayub-Guerrieri, D. / Vainzof, M. et al. | 2011
- 666
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P2.19 Norwegian patients with Limb Girdle Muscular Dystrophy 2I structural changes and immunhistochemistry related to clinical findings and genotype-fenotypeLindal, c. u. / Stensland, E. / Jonsrud, C. / Torbergsen, T. / Myreng, K. / Bindoff, L. A. / Rasmussen, M. / Thyssen, F. / Nilssen, O. et al. | 2011
- 667
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P2.24 Is DNAJB6 part of the chaperone-assisted selective autophagy machinery?Jonson, c. u. / Sarparanta, J. / Luque, H. / Vihola, A. / Udd, B. et al. | 2011
- 667
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P2.23 Exploratory Rasch analysis of adapted North Star ambulatory assessment in LGMD 2IMayhew, A. G. / Eagle, c. u. / Willis, T. A. / Straub, V. et al. | 2011
- 667
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P2.22 Quantitative MRI in LGMD2I; a longitudinal studyWillis, c. u. / Hollingsworth, K. G. / Sveen, M. L. / Morrow, J. / Vandenheede, J. / Strojkovic, T. / Eagle, M. / Mayhew, A. / Bushby, K. / Lochmuller, H. et al. | 2011
- 667
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P2.21 Dysferlin-mediated membrane repair system contributes to maintenance of skeletal muscle cell viability in mouse models for muscular dystrophyToda, c. u. / Kanagawa, M. / Lu, Z. / Ito, C. / Kuga, A. / Hozoji-Inada, M. / Sudo, A. / Kobayashi, K. et al. | 2011
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P2.25 Clinical and histological aspects in 17 Brazilian children with sarcoglycanopathyAlbuquerque, c. u. / Martins, C. A. / Neto, O. L. / Pasqualin, L. M. / Resende, M. B. / Chadi, G. / Zanoteli, E. / Reed, U. C. et al. | 2011
- 668
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P2.27 Full exome resequencing by next generation sequencing (NGS) combined with chip analysis for the genetic testing of unclassified myopathic patientsTorella, A. / Dharmalingam, G. / Piluso, G. / Del Vecchio Blanco, F. / Aurino, S. / Fanin, M. / Angelini, C. / Politano, L. / Nigro, c. u. et al. | 2011
- 668
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P2.26 LGMD1D mutations impair the antiaggregation activity of DNAJB6Sarparanta, c. u. / Jonson, P. H. / Luque, H. / Udd, B. et al. | 2011
- 668
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P2.28 Caveolin-3 and electrical myotoniaMilone, c. u. / McEvoy, K. M. / Sorenson, E. J. / Daube, J. R. et al. | 2011
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P2.31 LGMD 1C: Difficulty in diagnosisSchaeffer, S. / Krahn, M. / Leturcq, F. / Romero, N. / Simon, J. P. / Landemore, G. / Chapon, c. u. et al. | 2011
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P2.29 Autosomal recessive limb girdle muscular dystrophy in Saudi ArabiaAl-Muhaizea, c. u. / Bohlega, S. / Al Homoud, I. / Monies, D. M. / Majid, S. / Al Azami, A. / Jaroudi, D. / Bas, B. / Meyer, B. F. / Al Hindi, H. N. et al. | 2011
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P2.30 Caveolinopathy: Further clinical heterogeneityHankiewicz, c. u. / Rojas-Garcia, R. / Diaz-Manera, J. / Gallardo, E. / Llauger, J. / Gallano, P. / Illa, I. et al. | 2011
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P2.34 Mutational spectrum of sarcoglycanopathies in SpainVerdura, E. / Gonzalez-Quereda, L. / Juan-Mateu, J. / Rodriguez, M. J. / Cabello, A. / Castro Gago, M. / Coll, J. / Colomer, J. / Gutierrez-Rivas, E. / Hankiewicz, K. et al. | 2011
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P2.35 Limb-girdle muscular dystrophies in the Portugal's central regionNegrao, c. u. / Matos, A. / Geraldo, A. / Rebelo, O. / Massano, A. / Domingues, J. / Coutinho, M. / Santos, R. et al. | 2011
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P2.32 Rare association of recessive limb-girdle muscular dystrophies in a Portuguese familyMatos, c. u. / Teotonio, R. / Geraldo, A. / Rebelo, O. / Negrao, L. et al. | 2011
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P2.38 Lower limb muscle MRI in a large cohort of FSHD patientsTasca, c. u. / Monforte, M. / Iannaccone, E. / Frusciante, R. / Laschena, F. / Ottaviani, P. / Di Lella, G. M. / Galluzzi, G. / Tiziano, F. D. / Broccolini, A. et al. | 2011
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P2.37 MR as biomarker for disease evaluation in facioscapulohumeral dystrophyJanssen, c. u. / Arts, R. J. / Voet, N. B. / Nabuurs, C. I. / Engelen, B. G. / Heerschap, A. et al. | 2011
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P2.36 Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophyLiang, c. u. / Wang, C. H. / Leung, M. / Hsieh, T. J. / Chen, T. H. / Jong, Y. J. et al. | 2011
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P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12years retrospectiveBen Yaou, R. / Demay, L. / Chikhaoui, K. / Hamroun, D. / Beroud, C. / Richard, P. / Bonne, c. u. et al. | 2011
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P2.39 Testing for correlations between clinical parameters and epigenetic modifications in FSHD1 and FSHD2Balog, c. u. / de Greef, J. C. / Thijssen, P. E. / Tawil, R. / van der Maarel, S. M. et al. | 2011
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P2.40 Double trouble: Resulting phenotype in a young patient with facio-scapulo-humeral dystrophy and Williams-Beuren syndromePassamano, L. / Cecio, M. R. / Picillo, E. / D'Avanzo, G. / Galluzzi, G. / Politano, c. u. et al. | 2011
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P2.44 Accelerated skeletal muscle ageing is a molecular signature in OPMDVenema, c. u. / Anvar, S. A. / t' Hoen, P. A. / van der Sluijs, B. / van Engelen, B. / van der Maarel, S. M. / Raz, V. et al. | 2011
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P2.43 Revisiting X-linked Emery-Dreifuss muscular dystrophy. New insights into an old storyBen Yaou, R. / Beugnet, C. / Chikhaoui, K. / Hamroun, D. / Kaplan, J. C. / Beroud, C. / Bonne, c. u. / Leturcq, F. et al. | 2011
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P2.42 Cys150Arg FHL1 mutation in two brothers affected by the Emery-Dreifuss muscular dystrophy phenotypeOrtez, c. u. / Nascimento, A. / Jimenez-Mallabrera, C. / Feldkirchner, S. / Kubny, C. / Schessl, J. / Jou, C. / Corbera, J. / Roig, M. / Colomer, J. et al. | 2011
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P2.45 Proteomic studies of muscle progenitor cells in affected and non-affected oculopharyngeal muscular dystrophy musclesGidaro, c. u. / Mamchaoui, K. / Bouazza, B. / Perie, S. / Svinartchouk, F. / Blumen, S. / Guily, J. J. / Butler-Browne, G. / Mouly, V. / Trollet, C. et al. | 2011
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P2.48 Increasing number of new recessive mutations in ANO5: 11 different mutations in 27 patientsPenttila, c. u. / Palmio, J. / Suominen, T. / Udd, B. et al. | 2011
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P2.47 Anoctamin 5 mutations in the Dutch limb girdle muscular dystrophy populationFrankhuizen, W. S. / Verschuuren, J. J. / van Doorn, P. A. / de Visser, M. / Ginjaar, H. B. / van der Kooi, c. u. et al. | 2011
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P2.46 Reduced availability of soluble PABPN1 in a muscle cells is associated with OPMDMaarel, S. / Raz, c. u. et al. | 2011
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P2.50 LGMD2L in Italian population: New mutations and clinical and morphological aspectsMagri, F. / Del Bo, R. / D'Angelo, M. G. / Gandossini, S. / Corti, c. u. / Lucchini, V. / Napoli, L. / Moggio, M. / Comi, G. P. et al. | 2011
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P2.51 Expanding phenotype with mutations in ANO5Palmio, c. u. / Penttila, S. / Suominen, T. / Udd, B. et al. | 2011
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P2.49 Myopathies with mutations in anoctamin 5: Phenotype and gene mutations in a French cohortBehin, c. u. / Laforet, P. / Cossee, M. / Deburgrave, N. / Orhant, L. / Kaplan, J. C. / Stojkovic, T. / Leturcq, F. / Eymard, B. et al. | 2011
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P2.53 The mdx/SJL mouse: A new double mutant model for neuromuscular disorders with mutations in the dystrophin and dysferlin genesLanzotti, A. A. / Onofre-Oliveira, P. C. / Martins-Machado, P. C. / Martins-Bach, A. B. / Feitosa, L. N. / Vainzof, c. u. et al. | 2011
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P2.55 Mstn/Dysf double knockout mice gain muscle mass but no strengthSchoewel, c. u. / Adams, S. / Herrmann, C. / Zacharias, U. / Boschmann, M. / Richard, I. / Spuler, S. et al. | 2011
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P2.54 Real time analysis of sarcolemmal repair mediated by dysferlin and MG53Matsuda, c. u. / Miyake, K. / Kameyama, K. / Takeshima, H. / Keduka, E. / Araki, N. / Nishino, I. / Hayashi, Y. K. et al. | 2011
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P2.52 Dysferlin and anoctamin 5 mutations in the Dutch distal muscular dystrophy cohortde Visser, c. u. / Linssen, W. H. / Wokke, J. H. / Bernard, R. / Levy, N. / Ginjaar, H. B. et al. | 2011
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P2.56 Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South AmericaVernengo, c. u. / Oliveira, J. / Krahn, M. / Vieira, E. / Santos, R. / Carrasco, L. / Negrao, L. / Panuncio, L. / Leturcq, F. / Labelle, V. et al. | 2011
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P2.57 First dysferlinopathy patients in Egypt: Clinical, pathological and genetic characteristicsFahmy, c. u. / El-Hady, A. A. / El-Naser, A. A. / Ashour, S. / El-Etribi, A. / Nonaka, I. / Narihiro, M. / Naoki, S. / Toshiaki, T. / Aoki, M. et al. | 2011
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P2.58 Dissecting the interactions of proteins constituting the dysferlin complexFlix, c. u. / la Torre, C. D. / Castillo, J. / Casal, C. / Illa, I. / Gallardo, E. et al. | 2011
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P2.61 Metabolic changes in sialic acid synthesis pathway in DMRV/hIBM model mice with long-term sialic acid treatmentNoguchi, c. u. / Malicdan, M. C. / Funato, F. / Nishino, I. et al. | 2011
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P2.59 Lumbossacral paravertebral muscle MRI evaluation in dysferlinopathiesMatos, c. u. / Geraldo, A. / Portilha, M. A. / Seco, M. / Marques, C. / Negrao, L. et al. | 2011
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P2.60 Distal myopathy caused by a homozygous mutation in the titin geneNegrao, c. u. / Penttila, S. / Matos, A. / Rebelo, O. / Geraldo, A. / Vihola, A. / Hackman, P. / Udd, B. et al. | 2011
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P2.63 Clinical and molecular genetic features of Korean patients with GNE mutationsPark, c. u. / Kim, H. S. / Choi, E. S. / Kim, S. Y. / Kim, D. S. et al. | 2011
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P2.62 Expanding clinicopathological findings observed in the Asian patients with VCP mutationShi, c. u. / Hayashi, Y. K. / Mitsuhashi, S. / Momma, K. / Noguchi, S. / Nonaka, I. / Nishino, I. et al. | 2011
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P2.64 Muscle imaging in hereditary inclusion-body myopathyTasca, c. u. / Broccolini, A. / Rodolico, C. / Gidaro, T. / Morosetti, R. / Monforte, M. / Barca, E. / Ricci, E. / Mirabella, M. et al. | 2011
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S.I.4 Therapeutic approaches for familial amyloid neuropathiesSaraiva, c. u. et al. | 2011
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S.I.1 Development and preclinical evaluation of therapies for spinal muscular atrophyBurghes, c. u. / Foust, K. / McGovern, V. / Poresnsky, P. / Bevan, A. / Duque, S. / Le, T. / Iyer, C. / Laporte, A. / Alwin, I. et al. | 2011
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S.I.2 Motor neuron disorders and vulnerability to RNA processingTalbot, c. u. et al. | 2011
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S.I.3 Molecular genetics of Charcot-Marie-Tooth neuropathies: From mutations to gene interaction networksTimmerman, c. u. et al. | 2011
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O.7 Systemic delivery of RNase H-active antisense oligonucleotides reverses RNA dominance in a mouse model of myotonic dystrophyWheeler, T. M. / Leger, c. u. / Pandey, S. K. / MacLeod, A. R. / Nakamori, M. / Cheng, S. H. / Bennett, C. F. / Wentworth, B. M. / Thornton, C. A. et al. | 2011
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O.6 Antisense approach for myotonic dystrophyGourdon, G. / Furling, D. / Bassez, G. / Puymirat, c. u. et al. | 2011
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O.5 The miRNA profile of human SMA samplesArnold, c. u. / Christe, M. / Handschin, C. et al. | 2011
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O.8 Characterization of Japanese patients with myofibrillar myopathyHayashi, Y. K. / Goto, c. u. / Kure, Y. / Ohnishi, M. / Sato, T. / Keduka, E. / Shalaby, S. / Shi, Z. / Noguchi, S. / Nonaka, I. et al. | 2011
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P3.2 Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysisFiorillo, c. u. / Moro, F. / Astrea, G. / Battini, R. / Gully, C. / Olschewski, A. / Auer-Grumbach, M. / Bruno, C. / F.M., S. et al. | 2011
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P3.1 Brown-Vialetto-Van Laere and Fazio Londe overlap sindromes: A clinical, biochemical and genetic study in 6 patientsBertini, c. u. / Ciccolella, M. / Catteruccia, M. / Benedetti, S. / D'Amico, A. / Fattori, F. / Letizia Salsano, M. / Carletti, B. / Tozzi, G. / Piemonte, F. et al. | 2011
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P3.3 Does muscle strength deteriorate over time in Spinal muscular atrophy type II and III? Fifteen years follow up study in 22 patients with SMA II and 9 patients with SMA IIIWerlauff, c. u. / Vissing, J. / Steffensen, B. F. et al. | 2011
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P3.6 Segmental distribution of muscle weakness in Dutch patients with SMA type 2, 3 and 4Wadman, c. u. / van den Berg, L. H. / van der Pol, W. L. et al. | 2011
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P3.4 Spinal muscular atrophy with respiratory distress type 1 (SMARD-1). A clinico-pathological follow-upMillan-Tejado, c. u. / Teijeira, S. / Fernandez, J. M. / C., N. et al. | 2011
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P3.5 Oxidative defect in a large cohort of genetically-determined SMA casesBerardinelli, A. / Fagiolari, G. / Vallejo, D. / Lucchini, V. / Bordoni, A. / Lamperti, C. / Ripolone, M. / Corti, S. / Balottin, U. / Bresolin, N. et al. | 2011
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P3.7 Trained health professionals of an intensive care unit of a public hospital dedicated to spinal atrophy patients: Increase of life expectancy and quality of lifeMartinez, c. u. / Raiter, C. / Franco, J. S. / Dias, M. M. / Carvalho, B. R. / Bermudez, M. / Godoy, A. J. et al. | 2011
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P3.8 Cardiac involvement in patients with spinal muscular atrophiesPalladino, A. / Passamano, L. / Scutifero, M. / Gregorio, M. G. / Spina, F. / Torre, V. / Luca, F. D. / Nigro, G. / Politano, c. u. et al. | 2011
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P3.9 Late-onset lower motor neuronopathy (LOSMoN) - clinical and genetic evaluation of two new familiesJokela, c. u. / Penttila, S. / Huovinen, S. / Saukkonen, A. M. / Toivanen, J. / Udd, B. et al. | 2011
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P3.13 Phenolic compounds and their effect on full length and delta7 SMN2 transcriptsDayangac-Erden, c. u. / Bora-Tatar, G. / Dalkara, S. / Erdem-Yurter, H. et al. | 2011
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P3.10 Intramuscular AAV9 administration enables transgene delivery to motor neurons in the whole spinal cord: Therapeutic application in a SMA mouse modelBenkhelifa-Ziyyat, c. u. / Besse, A. / Duque, S. / Carcenac, R. / Marais, T. / Astord, S. / Roda, M. / Barkats, M. et al. | 2011
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P3.11 Antisense oligomer mediated retention of SMN2 intron and exon 7 leads to a novel SMN transcript and increased functional SMN protein in Spinal Muscular Atrophy fibroblastsMitrpant, c. u. / Price, L. / Johnsen, R. D. / Burghes, A. H. / Fletcher, S. / Wilton, S. D. et al. | 2011
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P3.12 Small molecule compounds that correct alternative splicing of the SMN2 gene and restore SMN protein expression and functionNaryshkin, c. u. / Narasimhan, J. / Dakka, A. / Gabbeta, V. / Haley, M. / Crona, J. / Jung, S. / Vazirani, P. / Furia, B. / Qi, H. et al. | 2011
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P3.16 Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acidDarbar, I. A. / Plaggert, P. G. / Fireman, c. u. / Godoy, A. J. / Resende, M. B. / Zanoteli, E. / Reed, U. C. et al. | 2011
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P3.14 Drug treatment in spinal muscular atrophy types 1, 2 and 3: An update of the systematic Cochrane reviewWadman, c. u. / van der Pol, W. L. / Vrancken, A. F. et al. | 2011
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P3.15 A model for motor neuron degeneration and treatment of Spinal Muscular Atrophy using human induced pluripotent stem cellsCorti, c. u. / Magri, F. / Nizzardo, M. / Simone, C. / Falcone, M. / Salani, S. / Donadoni, C. / Nardini, M. / Riboldi, G. / Menozzi, G. et al. | 2011
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P3.19 Neonatal presentation of Charcot-Marie-Tooth disease: A new mutation in Mitofusin 2 geneCosta, c. u. / Fineza, I. et al. | 2011
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P3.20 Inherited peripheral neuropathies: Genetic testing in the diagnostic laboratoryAntonidi, c. u. / Majumdar, A. / Burton-Jones, S. / Williams, M. et al. | 2011
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P3.17 The extremes of the clinical spectrum of CMT1A and HNPP patients: Phenotypic characteristicsvan Paassen, c. u. / de Vries, S. J. / Verhamme, C. / de Visser, M. / Baas, F. / van der Kooi, A. J. et al. | 2011
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P3.18 Hereditary polyneuropathies in a neuromuscular pediatric consultationSa, c. u. / Raposo, J. / Costa, C. / Vasconcelos, M. / Robalo, C. / Fineza, I. et al. | 2011
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P3.22 A novel pathogenic mutation of the MPZ gene causing hereditary neuropathyNiermeijer, c. u. / Jansweijer, M. / van der Kooi, A. / van Ruissen, F. / Baas, F. / Poll-The, B. T. / Overweg-Plandsoen, W. C. et al. | 2011
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P3.21 A missense mutation in Mitofusin 2 causing early onset, progressive, axonal polyneuropathy (CMT2), optic atrophy and developmental delay in a childHewawitharana, G. P. / Antoniadi, T. / Faulkner, C. / Williams, M. / Rankin, J. / Majumdar, c. u. et al. | 2011
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P3.23 Characterization of a new mutation in the GADP1 gene causing axonal autosomal dominant Charcot-Marie-Tooth disease (CMT2K)Guijarro, c. u. / Blanco-Arias, P. / Pardo, J. / Concheiro-Alvarez, C. / San Millan, B. / Joglar-Santos, J. / Arias-Gomez, M. / Navarro Fernandez-Balbuena, C. / Carracedo Alvarez, A. / Sobrido, M. et al. | 2011
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P3.26 Analysis of the Giant axonal neuropathy fibroblasts proteomeVan Coster, c. u. / Mussche, S. / De Paepe, B. / Smet, J. / Lissens, W. / Rasic, V. / Devreese, B. et al. | 2011
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P3.25 Charcot-Marie-Tooth type 1E associated with Dandy-Walker malformation in monozygotic twins: Case reportMassano, c. u. / Geraldo, A. / Matos, A. / Negrao, L. et al. | 2011
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P3.24 A deletion in ARHGEF10 is highly associated with early onset inherited polyneuropathy in Leonberger and St. Bernard dogsShelton, c. u. / Ekenstedt, K. / Drogemuller, C. / Minor, K. M. / Becker, D. / Leeb, T. / Patterson, N. / Mickelson, J. et al. | 2011
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P3.29 Pediatric chronic inflammatory demyelinantig polyneuropathy and reversible posterior leukoencephalopathy - case reportSa, F. / Costa, C. / Vasconcelos, M. / Robalo, C. / Negrao, L. / Fineza, c. u. et al. | 2011
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P3.27 Childhood mitochondrial neuropathies: Clinical, electrophysiological and histopathological characteristicsMenezes, c. u. / Ryan, M. M. / Thorburn, D. / Christodoulou, J. C. / North, K. N. / Ouvrier, R. A. et al. | 2011
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P3.28 Baseline neurologic function in symptomatic patients in the Transthyretin Amyloidosis Outcomes Survey (THAOS)Conceicao, c. u. / Coelho, T. / Plante-Bordeneuve, V. / Waddington Cruz, M. / Ericzon, B. G. / Falk, R. H. / Ikeda, S. / Maurer, M. / Suhr, O. B. / Ando, Y. et al. | 2011
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P3.30 Normative values for intraepidermal nerve fibers in a Portuguese populationPereira, c. u. et al. | 2011
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P3.33 The expression of amphiphysin-2 during skeletal muscle regenerationIshii, c. u. / Ohkoshi, N. / Tamaoka, A. et al. | 2011
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P3.31 Congenital myopathies - clinical features and frequency of individual subtypes diagnosed in a five-year period: the UK experienceMaggi, L. / Scoto, c. u. / Cirak, S. / Feng, L. / Lillis, S. / Cullup, T. / Robb, S. / Manzur, A. / Sewry, C. A. / Abbs, S. et al. | 2011
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P3.32 The molecular genetics of monogenic neuromuscular disorders characterised by reduced foetal movementRavenscroft, c. u. / Sollis, E. / Charles, A. K. / Fabian, V. A. / North, K. N. / Baynam, G. / Laing, N. G. et al. | 2011
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P3.34 Correlation of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the muscle pathology of myotubularin1-deficient miceShichiji, c. u. / Biancalana, V. / Fardeau, M. / Laporte, J. / Romero, N. B. et al. | 2011
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P3.36. Phenotypic spectrum in myopathies with tubular aggregatesFunk, F. / Ceuterick-de Groote, C. / Martin, J. J. / Meinhardt, A. / de Bleecker, J. / de Jonghe, P. / Taratuto, A. L. / Saccoliti, M. / Schroder, J. M. / Schulz, J. B. et al. | 2011
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P3.35. Expanding the mutation spectrum of the MTM1 gene: The first multi-exonic duplication and establishment of a locus-specific databaseOliveira, c. u. / Oliveira, M. E. / Brekelmans, R. / Melo Pires, M. / Guimaraes, A. / den Dunnen, J. T. / Santos, M. / dos Santos, M. R. et al. | 2011
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P3.38 X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) geneTrump, N. / Cullup, T. / Muntoni, F. / Verheij, J. / Jungbluth, c. u. et al. | 2011
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P3.37 New histopathlogical features in Centronuclear Myopathy caused by DNM2 mutations - clues to disease pathogenesisOates, c. u. / Ilkovski, B. / North, K. N. / Clarke, N. F. et al. | 2011
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P3.39 The clinical and muscle MRI analysis of centronuclear myopathiesKarasoy, c. u. / Argin, M. / Ozbay, O. E. / Yuceyar, A. N. et al. | 2011
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P3.40 Myopathy in a woman and her daughter associated with a novel MTM1 mutationHedberg, c. u. / Lindberg, C. / Mathe, M. / Moslemi, A. R. / Oldfors, A. et al. | 2011
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P3.42 Mutation in the ryanodine receptor (RYR1) gene in a family with slowly progressive axial muscular dystrophyTorbergsen, c. u. / Karime, B. / Loseth, S. et al. | 2011
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P3.41. Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) geneKlein, c. u. / Lillis, S. / Oprea, I. / Scoto, M. / Robb, S. / Manzur, A. / Straub, V. / Roper, H. / Jeannet, P. Y. / Kingston, H. et al. | 2011
- 695
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P3.44 Characterisation of sarcoplasmic reticulum calcium release in equine and human myotubes derived from MyoD-transformed fibroblastsFernandez-Fuente, c. u. / Terracciano, C. M. / Pilsworth, R. / Muntoni, F. / Brown, S. C. / Piercy, R. J. et al. | 2011
- 695
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P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) geneLoseth, c. u. / Lillis, S. / Torbergsen, T. / Jonsrud, C. / Lindal, S. / Maddison, P. / Muntoni, F. / Sewry, C. / Abbs, S. / Straub, V. et al. | 2011
- 695
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P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutationsFeng, c. u. / Scoto, M. / R., P. / Lillis, S. / Cullup, T. / Mein, R. / Abbs, S. / Muntoni, F. / Sewry, C. A. et al. | 2011
- 696
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P3.46 Studying the pathogenesis of nebulin-caused nemaline myopathy and related disordersHanif, c. u. / Gronholm, M. / Pelin, K. / Wallgren-Pettersson, C. et al. | 2011
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P3.48 Exome sequencing with linkage analysis identifies a novel ACTA1 variant in a large family with progressive muscle weaknessPerkins, c. u. / Meilleur, K. / Medne, L. / Devoto, M. / Tennekoon, G. / Yum, S. / Yang, M. / Finkel, R. / Johnson, J. / Gibbs, J. R. et al. | 2011
- 696
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P3.47 Nemaline myopathy caused by a novel missense mutation in the CFL2 geneOckeloen, C. W. / Gilhuis, H. J. / Pfundt, R. / Kamsteeg, E. J. / Beggs, A. H. / Dara-Hama Amin, A. / Knoers, V. V. / Lammens, c. u. / Alfen, N. et al. | 2011
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P3.50 Autophagic vacuolar myopathy in a girlSadala-Souza, c. u. / Silveira, E. B. / Cordeiro, B. A. / Carvalho, D. R. / Martins, C. E. / Kalil, R. K. et al. | 2011
- 697
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P3.49 Myopathy associated with mutations in CHKB in three UK patientsQuinlivan, c. u. / Nishino, I. / Mitsuahashi, S. / Ayoyama, C. / Sewry, C. / Muntoni, F. / Cirak, S. / Robb, S. / Moore, D. / Abbs, S. et al. | 2011
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P3.51 A new form of autosomal recessive myopathy associated with male hypogonadism links to chromosome 11qClarke, c. u. / Bromhead, C. J. / Bahlo, M. / North, K. N. et al. | 2011
- 698
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P3.53 Quantitative muscle MRI findings in three patients with adult-onset Pompe disease after a 24-month enzyme replacement therapySalort-Campana, c. u. / Fur, Y. L. / Attarian, S. / Mattei, J. P. / Cozzone, P. J. / Pouget, J. / Bendahan, D. et al. | 2011
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P3.52 Risk of dysrythmic cardiomyopathy may be considered in patients with adult onset Pompe diaseaseSacconi, c. u. / Duboc, D. / Wahbi, K. W. / L., S. / Laloui, K. / Laforet, P. / Desnuelle, C. et al. | 2011
- 698
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P3.54 Auditory system involvement study in 20 patients with late onset Pompe diseaseMusumeci Olimpia, c. u. / Catalano Natalia, C. N. / Barca Emanuele, B. A. / Ravaglia Sabrina, R. S. / Gangemi Giovanna, G. G. / Fiumara Agata, F. G. / Sorge Giovanni, S. G. / Galletti, G. B. / Galletti Francesco, G. F. / Toscano Antonio, T. A. et al. | 2011
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P3.55 CRIM status and antibody formation in patients with classic infantile Pompe disease treated with enzyme-replacement therapyvan Gelder, C. M. / Kroos, M. A. / Ozkan, L. / van der Ploeg, c. u. / Reuser, A. J. et al. | 2011
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P3.57 Clinical features, disease progression and prognostic factors of muscle weakness in adults with Pompe diseasevan der Beek, c. u. / de Vries, J. M. / Hagemans, M. L. / Hop, W. C. / Kroos, M. A. / Reuser, A. J. / van der Ploeg, A. T. / van Doorn, P. A. et al. | 2011
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P3.56 Analysis of the screening process for Pompe disease at theCuiaba University Teaching Hospital, Brazil in 2010Siqueira, c. u. / Felicio, T. A. / Borges, R. S. / Lima, F. B. / Galera, M. F. / Dalbem, J. S. et al. | 2011
- 700
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P3.59 Remarkably low acid alpha-glucosidase activity in two patients with adult-onset Pompe diseaseWens, c. u. / de Vries, J. M. / van der Beek, N. A. / Kroos, M. / Reuser, A. J. / Brusse, E. / van Doorn, P. A. / van der Ploeg, A. T. et al. | 2011
- 700
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P3.58 Differences in clinical spectrum in families with Pompe diseaseWens, c. u. / de Vries, J. M. / van der Beek, N. A. / Kroos, M. / Reuser, A. J. / E., B. / van Doorn, P. A. / van der Ploeg, A. T. et al. | 2011
- 700
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P3.60 Pompe disease in persons with unclassified Limb-girdle muscular dystrophyHusu, c. u. / Preisler, N. / Madsen, K. / Hansen, R. / Lukacs, Z. / Laub, M. / Dunoe, M. / Andersen, H. / Vinge, L. / Vissing, J. et al. | 2011
- 701
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T.I.1 Potential for gene therapy in DMDMendell, c. u. et al. | 2011
- 701
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P3.61 A 40year old female with glycogen storage disease type II according to muscle pathology and clinical features, but normal genetic study and GAA enzyme activitySuh, c. u. / Choi, Y. C. / Shim, D. S. et al. | 2011
- 701
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P3.62 Longitudinal study of skeletal muscle images in childhood-onset Pompe disease patients receiving enzyme replacement therapy (ERT)Ishigaki, c. u. / Saito, T. / Kuwatsuru, R. / Murakami, T. / Sato, T. / Onai, S. / Nonaka, I. / Osawa, M. et al. | 2011
- 702
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T.I.2 Antisense oligonucleotide exon skipping therapy for DMDWood, c. u. et al. | 2011
- 702
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T.I.3 Antisense Oligonucleotide (AON) mediated exon skipping trials in Duchenne Muscular Dystrophy (DMD): Current status, future prospects and challengesGoemans, c. u. et al. | 2011
- 702
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O.9 Stem cell therapy of muscular dystrophies using exon skipping approach in GRMD dogsMeregalli, M. / Farini, A. / Belicchi, M. / Parolini, D. / Sitzia, C. / Cassinelli, L. / Del Fraro, G. / Razini, P. / Angeloni, V. / Jardim, L. et al. | 2011
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O.11 Development of systemic antisense treatment in dystrophic mouse models for Duchenne muscular dystrophyAartsma-Rus, c. u. / Tanganyika-de Winter, C. L. / van Putten, M. / Karnaoek, T. / van Deutekom, J. C. / van Ommen, G. J. et al. | 2011
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O.12 Studies in antisense oligonucleotide induced exon skipping of single or double exon duplicationsTaylor, L. / Zhao, L. / Kaminoh, Y. / Mamchaoui, K. / Mouly, V. / Butler-Browne, G. / Vulin, A. / Wilton, S. / Flanigan, c. u. et al. | 2011
- 703
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O.10 Effect of combined treatment with soluble activin receptor IIB and AAV-U7-mediated dystrophin exon skipping on muscle function in mdx miceHoogaars, c. u. / Mouisel, E. / Relizani, K. / Pasternack, A. / Hourde, C. / Precigout, G. / Ferry, A. / Garcia, L. / Kemaladewi, D. U. / Aartsma-Rus, A. et al. | 2011
- 704
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P4.2 Duchenne Muscular Dystrophy and corticosteroids: Timed motor performance predictive of time to loss of ambulationDichiaro, M. / McMahon, M. / Horn, P. / Petersen, A. / Wong, c. u. et al. | 2011
- 704
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P4.1 Puberty is delayed or absent in Duchenne Muscular Dystrophy boys on chronic glucocorticoid therapyRutter, M. M. / Rose, S. R. / Collins, J. / Sucherew, H. / Wong, c. u. / Rybalsky, I. et al. | 2011
- 704
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O.13 Interference of myostatin and TGF-beta signaling by antisense-mediated exon skipping in ALK4/5 receptorsKemaladewi, c. u. / van Heiningen, S. H. / Aartsma-Rus, A. / van Ommen, G. J. / ten Dijke, P. / Hoogaars, W. M. et al. | 2011
- 704
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O.14 Biocompatible nanoparticles as slow-release delivery system of 2primeOMePS AON administered both intraperitoneally and orally in the mdx mice: dystrophin rescue and nanoparticles biodistributionFerlini, c. u. / Rimessi, P. / Bassi, E. / Falzarano, M. S. / Fabris, M. / Perrone, D. / Sabatelli, P. / Maraldi, N. M. / Sparnacci, K. / Laus, M. et al. | 2011
- 705
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P4.4 Lung function monitoring in patients with Duchenne muscular dystrophy on steroid therapyMachado, D. L. / Silva, E. C. / Godoy, c. u. / Resende, M. B. / Carvalho, C. R. / Zanoteli, E. / Reed, U. C. et al. | 2011
- 705
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P4.3 Use of the motor function measure scale to analyze effects of steroid therapy on patients with Duchenne Muscular DystropySilva, E. C. / Machado, D. L. / Godoy, c. u. / Resende, M. B. / Silva, R. F. / Zanoteli, E. / Reed, U. C. et al. | 2011
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P4.5 Benefits and adverse effects of glucocorticoids in boys with Duchenne Muscular DystrophyRicotti, c. u. / Manzur, A. Y. / Scott, E. / Muntoni, F. et al. | 2011
- 706
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P4.6 Efficacy of low-dose steroid therapy for scoliosis in patients with Duchenne muscular dystrophyMurakami, c. u. / Ishigaki, K. / Saito, T. / Sato, T. / Onai, S. / Osawa, M. et al. | 2011
- 706
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P4.7 How bad is deflazacort for bones in boys with Duchenne Muscular Dystrophy?Mayo, c. u. / McAdam, L. / Biggar, W. D. / Craven, B. C. et al. | 2011
- 706
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P4.8 Results from a two-year open label intervention study with idebenone (Catena) in Duchenne muscular dystrophyBuyse, c. u. / Thijs, D. / Goemans, N. / van den Hauwe, M. / Wei, H. / Rummey, C. / Meier, T. / Mertens, L. et al. | 2011
- 707
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P4.10 The relationship of ataluren plasma concentration and response across clinical studies in nonsense mutation dystrophinopathyFinkel, c. u. / Wong, B. / Bushby, K. / Voit, T. / Morsy, M. / Elfring, G. L. / Barth, J. / Peltz, S. W. et al. | 2011
- 707
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P4.9 A phase 2, randomized, placebo-controlled, multiple ascending-dose study of ACE-031 (ActRIIB-IgG1) in Duchenne muscular dystrophy (DMD): Preliminary resultsCampbell, c. u. / Attie, K. M. / Mah, J. K. / Tarnopolsky, M. / Selby, K. / McMillan, H. J. / Yang, Y. / Wilson, D. / Barger, R. / Sherman, M. L. et al. | 2011
- 707
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P4.11. Effect of AMPK/PPAR agonists and exercise training in mdx miceBueno, c. u. / Pantaleao, L. C. / Zatz, M. et al. | 2011
- 708
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P4.12 AMPK and PPAR-delta agonists show beneficial effects in the mdx mouse modelJahnke, c. u. / Van Der Meulen, J. H. / Johnston, H. K. / Partridge, T. / Hoffman, E. P. / Nagaraju, K. et al. | 2011
- 708
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P4.14 Investigating the role of calcium-independent phospholipase Formula Not Shown in store-operated calcium entry in mdx muscleJacobson, c. u. / Petermann, O. / Ruegg, U. T. et al. | 2011
- 708
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P4.15 Tamoxifen, an estrogen receptor modulator, is extremely potent on dystrophic (mdx5Cv) miceDorchies, O. M. / Patte-Reutenauer, J. / Petermann, O. / Patthey-Vuadens, O. / Gayi, E. / Ruegg, U. T. et al. | 2011
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P4.13 Effects of green tea polyphenols and prednisolone in the mdx[5Cv] dystrophic mouse: Improvement of motor performance and calcium handlingDorchies, c. u. / Jacobson, A. K. / Gallo, C. / Patte-Reutenauer, J. / Ismail, H. M. / Gayi, E. / Ruegg, U. T. et al. | 2011
- 709
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P4.16 Evaluation of potential efficacy of GLPG0492, a novel selective androgen receptor modulator, in the exercised-mdx mouse model: Comparison with Formula Not Shown -methyl prednisolone and nandroloneCozzoli, A. / Capogrosso, R. F. / Sblendorio, V. / Jagerschmidt, C. / Namour, F. / De Luca, c. u. et al. | 2011
- 709
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P4.17 Manganese enhanced MRI (MEMRI) as an outcome measure for cardiac function in the mdx mouseBlain, c. u. / Greally, E. / Laval, S. H. / Blamire, A. / Lochmuller, H. / Bushby, K. / MacGowan, G. / Straub, V. W. et al. | 2011
- 709
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P4.18 Prednisolone treatment does not influence antisense-mediated exon skipping in mdx mouseVerhaart, c. u. / Heemskerk, J. A. / de Kimpe, S. / Vroon, A. / Kolfschoten, I. / van Deutekom, J. C. / van Ommen, G. J. / Aartsma-Rus, A. et al. | 2011
- 710
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P4.22 In vivo decrease of elevated protein thiol oxidation and protection of dystrophic muscle from exercise induced damage, using the thiol containing antioxidant N-acetylcysteine in dystrophic mdx miceTerrill, c. u. / Radley-Crabb, H. G. / Grounds, M. D. / Arthur, P. G. et al. | 2011
- 710
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P4.21 Effects of suramin on the histopathological and functional features of cardiac muscle in mdx miceMarques, c. u. / Moreira, D. O. / Taniguti, A. P. / Pereira, J. A. / Ramos, L. A. / Areas, M. A. / Matsumura, C. Y. / Santo Neto, H. et al. | 2011
- 710
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P4.20 Effects of dietary phosphate on extensive ectopic calcification in mdx mouse and its muscle functionWada, c. u. / Yoshida, M. / Matsuda, R. et al. | 2011
- 710
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P4.19 Human IgG improves the performance of mdx mice in voluntary wheel runningZschuentzsch, c. u. / Makosch, G. / Klinge, L. / Tiburcy, M. / Brinkmeier, H. / Liebetan, D. / Schmidt, J. et al. | 2011
- 711
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P4.24 Glatiramer acetate (Copaxone) decreases macrophage infiltration and increases muscle strength in mdx mouse model of Duchenne muscular dystrophyBrunschwig, Z. / Yanay, N. / Aga-Mizrachi, S. / Ettinger, K. / Elbaz, M. / Kassis, I. / Felig, Y. / Rabbie, M. / Nevo, c. u. et al. | 2011
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P4.23 The role of activin receptor IIB signalling on skeletal muscle and the possible therapeutic implication for Duchenne muscular dystrophyMouisel, E. / Barthelemy, I. / Ferry, A. / Garcia, L. / Blot, S. / Amthor, c. u. et al. | 2011
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P4.25 Cyclic nucleotide signalling pathways as a potential druggable target for enhancing regeneration potential in dystrophic skeletal muscleSblendorio, V. / Watson, R. A. / Woodhouse, S. / Pell, J. M. / De Luca, c. u. et al. | 2011
- 712
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P4.26 Toward the identification of druggable pathways involved in disease-related fatigue in Duchenne muscular dystrophy: In vivo and ex vivo studies in dystrophic mdx miceCapogrosso, R. F. / Cozzoli, A. / Sblendorio, V. / Camerino, G. M. / Grange, R. W. / De Luca, c. u. et al. | 2011
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P4.27 Fourty eight-week follow-up data from a Phase I/IIa extension study of systemic PRO051/GSK2402968 in Duchenne muscular dystrophy: Comparison with contemporaneous controls for 6-min walking distance testGoemans, c. u. / Tulinius, M. / van den Hauwe, M. / Kroksmark, A. / Buyse, G. / Wilson, R. J. / van Deutekom, J. / de Kimpe, S. J. / Campion, G. V. et al. | 2011
- 712
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P4.28 Immunogenicity assay for detection of anti-dystrophin antibodies in serum of Duchenne Muscular Dystrophy patients following therapeutic antisense-induced exon skippingJean-Baptiste, R. / Kozaczynska, K. / van Deutekom, J. / de Kipme, S. / Lourbakos, c. u. et al. | 2011
- 713
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P4.29 Differential tissue expression and decay of dystrophin mRNA and proteinSpitali, c. u. / van Putten, M. / Vossen, R. H. / den Dunnen, J. T. / van Ommen, G. J. / Aartsma-Rus, A. et al. | 2011
- 713
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P4.30 Multiple exon skipping strategies to by-pass selected dystrophin mutationsAdkin, C. / Meloni, P. / Fletcher, S. / Wilton, c. u. et al. | 2011
- 713
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P4.32. Are large in-frame duplications of dystrophin functional?Muses, S. / Jones, H. / Wells, c. u. et al. | 2011
- 713
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P4.31 Transient mouse models for the preclinical evaluation of therapeutic dystrophin exon skipping strategiesFletcher, S. / Adams, A. / Adkin, C. / Greer, K. / Johnsen, R. / Wilton, c. u. et al. | 2011
- 714
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P4.35 In vivo stem cell tracking using scintigraphy in the GRMD dogThibaud, J. L. / Barthelemy, c. u. / Cassano, M. / De vauchelle, P. / Sampaolesi, M. / De Fornel-Thibaud, P. / Blot, S. et al. | 2011
- 714
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P4.34 Induction of tolerance to human myoblasts in miceBarros, H. B. / Reiderer, I. R. / Faria, A. M. / Savino, W. S. / Bonomo, c. u. et al. | 2011
- 714
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P4.33 Rapid differentiation of engrafted human myoblasts into immunodeficient mice correlates with the reduced proliferation and migrationRiederer, c. u. / Negroni, E. / Bencze, M. / Wolf, A. / Di Santo, J. P. / Silva-Barbosa, S. D. / Butler-Browne, G. / Savino, W. / Mouly, V. et al. | 2011
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P4.38 Survival of adult Pompe patients with and without treatment with enzyme replacement therapyGungor, c. u. / van der Ploeg, A. T. / Hagemans, M. L. et al. | 2011
- 715
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P4.37 Towards hematopoietic stem cell gene therapy for the treatment of Pompe diseaseStok, c. u. / de Boer, H. / de Visser, T. P. / Reuser, A. J. / van Deel, E. / Duncker, D. J. / van Til, N. P. / Wagemaker, G. et al. | 2011
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P4.36 Develoment of pluripotent stem celss as vectors for viral gene therapyRitso, c. u. / Dick, E. / Reza, M. / Laval, S. / Bushby, K. / Straub, V. / Denning, C. / Lochmuller, H. et al. | 2011
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P4.39 Enzyme replacement therapy during pregnancy and lactation in Pompe diseasede Vries, c. u. / Brugma, J. C. / Ozkan, L. / Kroos, M. A. / Steegers, E. A. / Reuser, A. J. / van Doorn, P. A. / van der Ploeg, A. T. et al. | 2011
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P4.41 Alglucosidase alfa reduces non-invasive ventilation needs in late-onset Pompe disease: Post-hoc analysis from the late onset treatment studyOrlikowski, c. u. / Falissard, B. / Laforet, P. / van der Ploeg, A. T. / Annane, D. et al. | 2011
- 716
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P4.40 Enzyme Replacement Therapy and prognostic factors for response: An ongoing open-label cohort study in adults with Pompe Diseasede Vries, c. u. / van der Beek, N. A. / Hagemans, M. L. / Hop, W. C. / Reuser, A. J. / van Doorn, P. A. / van der Ploeg, A. T. et al. | 2011
- 717
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P4.44 Methylphenidate reduces excessive daytime sleepiness in patients with myotonic dystrophyPuymirat, c. u. / Bouchard, J. P. / Mathieu, J. et al. | 2011
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P4.43 Therapeutic effect of metformin against insulin resistance in myotonic dystrophy type 1Takada, c. u. / Kon, S. / Oyama, Y. et al. | 2011
- 717
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P4.42 Muscle protein synthesis in patients with Dystrophia Myotonica type 1Orngreen, M. C. / Andersen, c. u. / Preisler, N. / Jeppesen, T. D. / van Hall, G. / Vissing, J. et al. | 2011
- 718
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P4.46 Expression of human GNE through adeno-associated virus mediated therapy delays progression of myopathy in the DMRV/hIBM mouse modelMalicdan, c. u. / Okada, T. / Sela, I. / Takeda, S. / Funato, F. / Nonaka, I. / Hayashi, Y. K. / Yakovlev, L. / Argov, Z. / Nishino, I. et al. | 2011
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P4.47 Hereditary inclusion body myopathy therapy: Assessment of an adeno associated virus AAV2/8 based GNE gene delivery systemMitrani-Rosenbaum, c. u. / Yakovlev, L. / Becker-Cohen, M. / Felig, Y. / Argov, Z. / Sela, I. et al. | 2011
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P4.45 Evaluation of the dual action of new derivatives of mexiletine as use-dependent sodium channel blockers and antioxidant: potential therapeutic application in neuromuscular disordersDe Bellis, M. / Sblendorio, V. / Carocci, A. / Cavalluzzi, M. M. / Lentini, G. / Franchini, C. / De Luca, c. u. / Conte Camerino, D. et al. | 2011
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P4.48 Therapeutic effect of rapamycine in a mouse model of autoimmune myositisPrevel, c. u. / Allenbach, Y. / Klatzmann, D. / Benveniste, O. et al. | 2011
- 719
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P4.49 Preventive therapy of severe neonatal myasthenia gravis during pregnancyEymard, c. u. / Vauthier, D. / Dommergues, M. / Chatenoud, L. et al. | 2011
- 719
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P4.50 Mitochondrial therapy with Cyclosporine A in patients with Ullrich Congenital Muscular DystrophyMerlini, c. u. / Armaroli, A. / Sabatelli, P. / Gnudi, S. / Michelini, M. E. / Bleve, C. / Franchella, A. / Ferlini, A. / Angelin, A. / Bonaldo, P. et al. | 2011
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P4.51 Correction of FKRP function via RNA trans-splicingFarmer, c. u. / Lorain, S. / Thrasher, A. / Garcia, L. / Muntoni, F. / Conti, F. et al. | 2011
- 720
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P4.54 Increased oxidative stress and successful antioxidant treatment in a vertebrate model of RYR1 related myopathyDowling, c. u. / Arbogast, S. / McEvoy, A. / Nelson, D. D. / Brooks, S. V. / Kuwada, J. Y. / Bonnemann, C. G. / Ferreiro, A. et al. | 2011
- 720
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P4.53 Effect of rituximab in two patients with dysferlin-deficient muscular dystrophyLerario, A. / Cogiamanian, F. / Marchesi, C. / Belicchi, M. / Bresolin, N. / Porretti, L. / Torrente, c. u. et al. | 2011
- 720
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P4.52 Combining gene and stem cell therapy in the treatment of dysferlinophatiesMeregalli, M. / Sitzia, C. / Navarro, C. / Parolini, D. / Belicchi, M. / Razini, P. / Farini, A. / Khran, M. / Garcia, L. / Levy, N. et al. | 2011
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P4.56 Alleviation of a cacostatic stress response slows disease progression in a mouse model of familial ALSDodge, J. C. / Kaspar, B. K. / Shihabuddin, L. S. / Cheng, c. u. et al. | 2011
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P4.57 Effects of air stacking on peak cough flows and forced vital capacity in patients with muscular dystrophy and spinal muscular atrophyCarvalho, T. B. / Resende, M. B. / Zanoteli, E. / Salge, J. M. / Nakashima, A. S. / Polisel, F. / Andrade, A. / Reed, c. u. et al. | 2011
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P4.55 Developing AMPA receptor aptamers as new drug candidates for ALSNiu, c. u. et al. | 2011
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P4.58 Muscle fiber type-predominant promoter activity in lentiviral-mediated transgenic mouseSuga, c. u. / Kimura, E. / Morioka, Y. / Ikawa, M. / Uchino, K. / Koide, T. / Uchida, Y. / Yamashita, S. / Maeda, Y. / Li, S. et al. | 2011
- 722
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P4.60 New horizons in the DuchenneConnect registryPeay, c. u. / Rangel, V. M. / Brown, K. / Martin, A. S. / Furlong, P. et al. | 2011
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P4.59 Standard operating procedures for preclinical efficacy studies in animal models of neuromuscular diseaseWillmann, c. u. et al. | 2011
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P4.61 The creation of a network after an international conferenceGodoy, c. u. et al. | 2011
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P4.62 The Jain Foundation: A new paradigm for funding disease researchWiley, c. u. / Mittal, P. et al. | 2011
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P4.63 The New Zealand neuromuscular disease registryRodrigues, c. u. / Roxburgh, R. / Kidd, A. / Patel, R. / Waldron, J. / O'Grady, G. / Love, D. / Hammond-Tooke, G. / Higgins, C. / Rayner, H. et al. | 2011
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P4.64 Monitoring care practices for Duchenne Muscular Dystrophy - the CARE-NMD projectGramsch, c. u. / Vry, J. / Rahbek, J. / Steffensen, B. / Bushby, K. / Lochmuller, H. / Rodger, S. / Kirschner, J. et al. | 2011
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P5.1 Overexpression of abnormal DM2 specific splice form, but not endogenous NEDD4 disrupts the turnover of PTEN in muscleScreen, c. u. / Lehtimaki, T. / Raheem, O. / Laaksonen, R. / Hackman, P. / Krahe, R. / Udd, B. et al. | 2011
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P5.4 Photovoice: Using an innovative qualitative research method to capture the experiences of individuals with myotonic dystrophy (DM1)LaDonna, c. u. / Venance, S. L. et al. | 2011
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P5.2 The DM-scope project: Promoting myotonic dystrophy care and researchHamroun, D. / Dogan, C. / Beroud, C. / Eymard, B. / Bassez, c. u. et al. | 2011
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P5.3 Fatigue and daytime sleepiness scale in myotonic dystrophy type 1Hermans, c. u. / Merkies, I. S. / Laberge, L. / Blom, E. W. / Vanhoutte, E. K. / Tennant, A. / Faber, C. G. et al. | 2011
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P5.5 Sequestration of MBNL1 protein by mutant ZNF9 RNA in lymphocytes of patients with myotonic dystrophy type 2Lukas, c. u. / Vohanka, S. / Feit, J. / Falk, M. / Falkova, I. / Hrabalkova, R. / Zaoralkova, J. et al. | 2011
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P5.6 Insulin receptor splicing in human adipose tissue of patients with DM2Falkova, c. u. / Falk, M. / Lukas, Z. / Stefancikova, L. / Hrabalkova, R. / Zoaralkova, J. / Feit, J. et al. | 2011
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P5.7 Muscle involvement assessed by CT in myotonic dystrophy type1Konagaya, M. / Nakayama, T. / Kawai, M. / Kuru, c. u. et al. | 2011
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P5.10. Myotonia congenita and CLCN1 testing in Australia: Novel mutations, racial variation and founder effectsDavis, c. u. / Sivadorai, P. / Lamont, P. J. / Nishino, I. / Laing, N. G. et al. | 2011
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P5.11. Using fluorescence resonance energy transfer (FRET) to reveal the basis for Thomsen's diseaseBretag, c. u. / Ma, L. / Rychkov, G. Y. / Bykova, E. A. / Zheng, J. et al. | 2011
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P5.8 The Quebec myotonic dystrophy-based population registryCossette, L. / Bouchard, J. P. / Mathieu, J. / Puymirat, c. u. et al. | 2011
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P5.9. Muscle channelopathies: Clinical and molecular genetic studies in a cohort of Italian patientsToscano Antonio, c. u. / Sweeney Mary, S. M. / Matthews Emma, M. E. / Sud Richa, S. R. / Musumeci Olimpia, M. O. / Rodolico Carmelo, R. C. / Vita Giuseppe, V. G. / Hanna Mike, H. M. / Portaro Simona, P. S. et al. | 2011
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P5.14 Challenges in diagnosis and management of a patient with severe congenital myasthenic syndrome mutated in CHRNELinzoain, J. / Avila-Smirnov, D. / Essid, N. / Rubinzstajn, R. / Bigue, V. / Renault, F. / Bassez, G. / Sternberg, D. / Estournet, B. / Quijano-Roy, c. u. et al. | 2011
- 727
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P5.12 Congenital myotonia caused by mutations in the chloride channel ClC-1 in the South Moravian Region of Czech RepublicVohanka, c. u. / Paclova, D. / Fajkusova, L. / Bednarik, J. et al. | 2011
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P5.13 Spectrum of CLCN1 and SCN4A mutations in Czech patients with non-dystrophic myotoniasFajkusova, L. / Paclova, D. / Sedlackova, J. / Vohanka, S. / Mazanec, R. / Vondracek, P. / Hermanova, c. u. et al. | 2011
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P5.17 Congenital Myasthenic Syndromes with COLQ mutations: Long term follow-upWargon, c. u. / Richard, P. / Kuntzer, T. / Nafissi, S. / Gaudon, K. / Sternberg, D. / Fournier, E. / Gevin, A. / Eymard, B. / Stojkovic, T. et al. | 2011
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P5.15 Clinical and serological features of very late-onset Myasthenia Gravis in Argentina: A multicentre retrospective cohort studyRugiero, M. / Bettini, M. / Salutto, V. / Figueredo, c. u. / Fulgenzi, E. / Conti, E. / Reisin, R. / Cristiano, E. / Mazia, C. et al. | 2011
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P5.16 Pregnancy outcome in congenital myasthenic syndromesBauduin, H. / Servais, L. / Richard, P. / Sternberg, D. / Fournier, E. / Laforet, P. / Behin, A. / Eymard, B. / Stojkovic, c. u. et al. | 2011
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P5.18 Human anti-MuSK IgG4 autoantibodies cause myasthenia gravis in immunodeficient miceKlooster, c. u. / Plomp, J. J. / Straasheijm, K. R. / Huijbers, M. G. / Niks, E. H. / Detmers, F. J. / Hermans, P. W. / Sleijpen, K. / Losen, M. / de Baets, M. H. et al. | 2011
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P5.19 A study on emotion recognition in patients with myastheniaLazaro, c. u. / Amayra, I. / Lopez-Paz, J. F. / Jometon, A. / De Nicolas, L. / Caballero, P. / Martn, N. / Hoffmann, H. / Kessler, H. et al. | 2011
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P5.20 Limb Girdle Congenital Myasthenia Syndrome associated with mutations in GFPT1 gene. Report of two patientsColomer, c. u. / Nascimento, A. / Ortez, C. / Jimenez-Mallabrera, C. / Jou, C. / Corbera, J. / Guergueltcheva, V. / Senderek, J. / Muller, J. S. / Lochmuller, H. et al. | 2011
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P5.23 Autoantibodies in sporadic Inclusion Body Myositis (sIBM): A population control studyRojana-Udomsart, c. u. / Bundell, C. S. / Hollingsworth, P. N. / Fabian, V. / Mastaglia, F. L. et al. | 2011
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P5.21 Novel mutation in the AChR alpha subunit C-loop dictates fast-channel kinetics by hindering channel opening triggered by agonists bindingShen, c. u. / Brengman, J. / Sine, S. M. / Engel, A. G. et al. | 2011
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P5.22 Granulomatous myositis and inclusion bodies myositis in a patient with hepatitis CMoura, H. B. / Sadala-Souza, c. u. / Lima, M. I. / Kalil, R. K. et al. | 2011
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P5.25 Inflammatory myopathies - Characteristics of a populationSantiago, c. u. / Serra, S. / Duarte, C. / Salvador, M. J. / Da Silva, J. A. et al. | 2011
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P5.24 Immune-mediated Necrotizing Myopathy Associated with Statins: Presentation of two cases and review of the literatureRugiero, c. u. / Bettini, M. / Bisonni, A. / Christiansen, S. / Cristiano, E. et al. | 2011
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P5.26 Myopathy associated with HIV, a review of 50 muscle biopsiesAllenbach, c. u. / Dubourg, O. / Maisonobe, T. / Herson, S. / Duyckaerts, C. / Benveniste, O. et al. | 2011
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P5.27 Evidence for the Implication of Th-1 and Treg cells but not Th-17 in sporadic Inclusion Body MyositisAllenbach, c. u. / Rosenzwajg, M. / Prevel, N. / Wanschitz, J. / Herson, S. / Klatzmann, D. / Benveniste, O. et al. | 2011
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P5.28 Culture supernatants from HTLV-1 infected T cells modify adhesion molecule-related gene signature in differentiated human muscleCastro, F. M. / Linhares-Lacerda, c. u. / Correa-de-Santana, E. / Sperandei, S. / Ribeiro-Alves, M. / Butler-Browne, G. / Mouly, V. / Silva-Barbosa, S. D. / Savino, W. et al. | 2011
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P5.29 Quadriceps extensor strength is a sensitive marker for disease progression in sIBM patientsAllenbach, Y. / Benveniste, c. u. / Decostre, V. / Canal, A. / Bloch, C. / Eymard, B. / Herson, S. / Hogrel, J. Y. et al. | 2011
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P5.30 Inclusion body myositis: A diagnostic challengeBrady, c. u. / Squier, W. / Hilton-Jones, D. / Sewry, C. / Holton, J. L. et al. | 2011
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P5.32 Quantitative EMG in strong and weak muscles in sporadic inclusion body myositisDahlbom, c. u. / Lindberg, C. et al. | 2011
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P5.31 Clinical, morphological and magnetic resonance imaging findings in sporadic inclusion body myositisLindberg, c. u. / Dahlbom, K. / Geijer, M. / Oldfors, A. et al. | 2011
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P5.33 Brachio-cervical inflammatory myopathy - A case reportNeutel, c. u. / Barroso, C. et al. | 2011
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P5.34 Alternative splicing of lamin A leads to age-dependent accumulation of progerin transcript in normal human muscle and sporadic IBMLuo, c. u. / Fabian, V. / Johnsen, R. / Fletcher, S. / Wilton, S. / Mastaglia, F. et al. | 2011
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P5.35 Inclusion is accumulated by CHMP2B in sporadic inclusion body myositisKurashige, c. u. / Takahashi, T. / Hiji, M. / Yamazaki, Y. / Nagano, Y. / Nakamura, T. / Arihiro, K. / Yamawaki, T. / Matsumoto, M. et al. | 2011
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P5.36 Standardized exercise test for identification of children with mitochondrial disordersPianosi, c. u. / Milone, M. et al. | 2011
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P5.37 Characterization of muscle biopsies in Mitochondrial respiratory chain disordersMassano, c. u. / Teotonio, R. / Rebelo, O. / Grazina, M. / Garcia, P. / Diogo, L. / Macario, M. C. et al. | 2011
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P5.39 Autosomal dominant chronic progressive ophthalmoplegia (adPEO) and lung adenocarcinoma showing compound heterozygous POLG1 mutationsPires, C. / Silvestre, A. R. / Vilarinho, L. / Evangelista, c. u. et al. | 2011
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P5.38 Clinical features of autosomal dominant ophthalmoplegia related to PEO1 gene mutationsPolara, G. F. / Behin, A. / Stojkovic, T. / Gilleron, M. / Jardel, C. / Wahbi, K. / Eymard, B. / Laforet, c. u. et al. | 2011
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P5.40 Mitochondrial myopathy and associated inflammatory changes in an adult patient with a m.4317A>G mutationPires, C. / Ferreira, M. / Silvestre, A. R. / Vilarinho, L. / Evangelista, c. u. et al. | 2011
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P5.42 Isolated muscle symptoms with multiple mitochondrial DNA deletions: Distinct mitochondrial disease entity, age-related myopathy, or age-related normal finding?Kornblum, c. u. / Litschko, J. / Berdel, P. / Zsurka, G. / Kunz, W. S. et al. | 2011
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P5.41 ATP synthase deficiency: A diagnostic strategy for not such an uncommon cause of OXPHOS dysfunctionVan Coster, c. u. / Smet, J. / De Paepe, B. / Seneca, S. / De Meirleir, L. / Regal, L. / Evangeliou, A. / Lissens, W. et al. | 2011
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P5.45 Recurrent rhabdomyolysis caused by LPIN 1 gene mutation in a patient affected by Charcot-Marie-Tooth 1ANascimento, c. u. / Ortez, C. / Jimenez-Mallabrera, C. / Garcia-Villoria, J. / Blazquez, E. / Jou, C. / Corbera, J. / Garcia, A. / Colomer, J. et al. | 2011
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P5.43 Fat and sugar metabolism during exercise, with and without L-Carnitine supplementation, in patients with medium chain acyl-CoA-dMadsen, c. u. / Preisler, N. R. / Andersen, S. P. / Hansen, R. S. / Orngreen, M. C. / Lund, A. M. / Vissing, J. et al. | 2011
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P5.44 Novel mutation in PNPLA2 presenting with distal myopathy and lipodystrophyMartinez Arroyo, c. u. / Naberhaus, B. / Liang, W. C. / Nishino, I. / Alonso, E. / Jucgla, A. / Olive, M. et al. | 2011
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P5.46 LPIN1 gene mutations can cause familial rhabdomyolysis and unexpected death in infancyvon der Hagen, c. u. / Smitka, M. / Michot, C. / Hubert, L. / de Kevzer, Y. / Huebner, A. / de Lonlay, P. et al. | 2011
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P5.48 Infantile-onset permanent weakness in muscle phosphofructokinase deficiencyLaforet, c. u. / Piraud, M. / Petit, F. / Hogrel, J. Y. / Romero, N. B. / Eymard, B. / Birouk, N. et al. | 2011
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P5.47 No second wind phenomenon, but glucose improves exercise capacity in Phosphoglucomutase deficiencyPreisler, c. u. / Orngreen, M. C. / Laforet, P. / Echaniz-Laguna, A. / Lonsdorfer-Wolf, E. / Doutreleau, S. / Geny, B. / Vissing, J. et al. | 2011
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P5.49 Adult onset intermittent rhabdomyolysisAntunes, c. u. / Nogueira, C. / Rocha, H. / Vilarinho, L. / Evangelista, T. et al. | 2011
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P5.51 Evaluation of standardized protein pattern of skeletal muscle fibers via laser microdissectionFeldkirchner, c. u. / Muller, S. / Kress, W. / Hanisch, F. G. / Schoser, B. / Schessl, J. et al. | 2011
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P5.50 Clinical Lipidomics - An approach towards clinical readout in orphan an common neuromuscular diseasesWenninger, c. u. / Klopstock, T. / Schoser, B. / Mewes, H. W. / Altmaier, E. et al. | 2011
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P5.54 Novel BAG3 mutations in myofibrillar myopathy patientsSato, c. u. / Hayashi, Y. K. / Keduka, E. / Noguchi, S. / Osawa, M. / Nonaka, I. / Nishino, I. et al. | 2011
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P5.55 In vivo characterization of mutant myotilinsKeduka, c. u. / Hayashi, Y. K. / Shalaby, S. / Mitsuhashi, H. / Noguchi, S. / Nonaka, I. / Nishino, I. et al. | 2011
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P5.52 Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophySelcen, c. u. / Bromberg, M. B. / Chin, S. S. / Engel, A. G. et al. | 2011
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P5.53 The C224W FHL1 mutation is causing a protein aggregation disorder of muscle: Two brothers revisitedFeldkirchner, S. / Walter, M. C. / Kubny, C. / Mueller, S. / Kress, W. / Hanisch, F. G. / Schoser, B. / Schessl, c. u. et al. | 2011
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P5.57 Proteomic analysis of protein aggregates in filaminopathyKley, c. u. / Theis, V. / Walde, K. / Kirschner, J. / Muller, K. / Vorgerd, M. / Marcus, K. et al. | 2011
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P5.56 Myofibrillar myopathy associated with filamin C mutations: Refining the phenotype and new insights in pathogenesisVorgerd, c. u. / Kley, R. A. / Serdaroglu-Oflazer, P. / Odgerel, Z. / Olive, M. / Lee, H. S. / Hahn, Y. / van der Ven, P. F. / Hohfeld, J. / Kirschner, J. et al. | 2011
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P5.58 The general population knowledge about neuromuscular diseasesGodoy, c. u. / Kanematsu, M. / Godoy, A. J. et al. | 2011
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P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disordersAvila-Smirnow, D. / Quijano-Roy, c. u. / Allamand, V. / Bonne, G. / Biancalana, V. / Dubourg, O. / Essid, N. / Ferreiro, A. / Guicheney, P. / Lebreton, C. et al. | 2011
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P5.60 Does vitamin D deficiency support myalgia?Grieben, c. u. / Spuler, S. et al. | 2011
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P5.59 Information factsheet for organ donation and neuromuscular conditionsSmith, J. / Majumdar, c. u. et al. | 2011
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P5.61 The muscle phenotype of the Compact mouse: Myostatin and androgen effect?Mendler, c. u. / Dux, L. / Zador, E. et al. | 2011
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P5.64 Effect of morbid obesity in skeletal muscle and its association with insulin resistanceSilvestre, c. u. / Machado, M. / Vilarinho, L. / Cortez-Pinto, H. / Evangelista, T. et al. | 2011
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P5.63. RNAlater simplifies the transport of muscle sections for mRNA analysis over long distancesTran, c. u. / Waddell, L. / North, K. N. / Clarke, N. F. et al. | 2011
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P5.66 The role of Neuraminidase 1 on skeletal muscle regenerationNeves, J. C. / Rizzato, V. R. / Fappi, A. / Godoy, T. S. / Xavier, G. O. / Chadi, G. / Bonten, E. / van de Vlekkert, D. / d`Azzo, A. / Zanoteli, c. u. et al. | 2011
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P5.67 Electrical muscle stimulation in early severe critical illness prevents type 2 fiber atrophySchneider, c. u. / Weber-Carstens, S. / Bierbrauer, J. / Marg, A. / Olbricht, C. / Al Hasani, H. / Spuler, S. et al. | 2011
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P5.68 Upregulation of squalene synthase in type IIB fibers is an early response for statin treatmentKeller-Pinter, c. u. / Murlasits, Z. / Szucs, G. / Menesi, D. / Puskas, L. / Ferdinandy, P. / Dux, L. et al. | 2011
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P5.65 The effects of Omega-3 fatty acid on skeletal muscle atrophy induced by DexamethasoneFappi, A. / Godoy, c. u. / Venancio, D. P. / Chadi, G. / Zanoteli, E. et al. | 2011
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P5.70 Age related changes in equine splenius muscle activityZsoldos, c. u. / Valentin, S. / Holler, P. J. / Peham, C. / Licka, T. F. et al. | 2011
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P5.69 Bulbofacial myopathy with anti-amphiphysin 2 (BIN 1) antibodies - A new paraneoplastic neurological syndrome?Reimann, c. u. et al. | 2011
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P5.71 Surface electromyography of the equine splenius muscle during neck exercises in relation to ultrasonographic muscle appearanceZsoldos, R. R. / Valentin, S. / Holler, P. J. / Peham, C. / Licka, c. u. et al. | 2011
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P5.76 Muscular dystrophies and congenital myopathies in childhoodThorarinsdottir, c. u. / Tulinius, M. / Darin, N. et al. | 2011
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P5.75 High throughput diagnosis of neuromuscular diseases: the NMD-CHIP EU projectNeri, M. / Scotton, C. / Vattemi, G. / Merlini, L. / Gualandi, F. / Levy, N. / Ferlini, c. u. et al. | 2011
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P5.74 The role of PGC-1alpha in the stabilization of the neuromuscular junctionArnold, c. u. / Christe, M. / Handschin, C. et al. | 2011
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P5.72 Inflammatory effect of AbetaPP induced ST6Gal1 secretion from myogenic cell lineBalci-Hayta, c. u. / Erdem-Ozdamar, S. / Dincer, P. et al. | 2011
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P5.77 Sarcomeric gene and protein expression during human myogenesis in vitroAbdul-Hussein, c. u. / Tajsharghi, H. T. et al. | 2011
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P5.78 IGF-1 induces myostatin expression through differential activation of the signaling pathways PI3K/Akt, Calcineurin/NFAT, ERK/CREB, CamK-MEF, Smad2/3 during myoblast proliferation and differentiationFlores, S. / Zuloaga, R. / Retamales, A. / Andrade, C. / Pino, K. / Molina, A. / Valdes, c. u. et al. | 2011
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P5.79 Differential mRNA expression in differentiation of human myogenic precursors: Correlation with the microRNA patternCorrea-de-Santana, c. u. / Linhares-Lacerda, L. / Ribeiro-Alves, M. / Sperandei, S. / Monteiro-de-Castro, F. M. / Butler-Browne, G. / Mouly, V. / Savino, W. et al. | 2011
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O.15 Mutations in the skeletal muscle ryanodine receptor (RYR1) gene presenting with exertional myalgia and rhabdomyolysisDlamini, N. / Voermans, N. C. / Lillis, S. / Abbs, S. / Kamsteeg, E. / Al-Sarraj, S. / Lammens, M. / Muntoni, F. / Quinlivan, R. / Wraige, E. et al. | 2011
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O.16 Role of BIN-1/Amphiphysin II and N-Wasp during nuclear positioning in centronuclear myopathiesGomes, c. u. / Didier, N. / Gache, V. / Sassoon, D. / Falcone, S. et al. | 2011
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P5.80 The increased expression of aquaporin-4 in Myoblast during MyogenesisPark, c. u. / Baek, A. M. / Na, S. J. / Choi, Y. C. et al. | 2011
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O.17 Autophagy thwarts collagen VI muscular dystrophiesGrumati, P. / Coletto, L. / Sabatelli, P. / Cescon, M. / Angelin, A. / Bertaggia, E. / Blaauw, B. / Urciuolo, A. / Merlini, L. / Maraldi, N. M. et al. | 2011
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O.18 Zebrafish as a model system for GNE mediated hereditary inclusion body myopathy (HIBM)Daya, A. / Becker-Cohen, M. / Gothilf, Y. / Du, S. J. / Mitrani-Rosenbaum, c. u. et al. | 2011
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O.19 Facioscapulohumeral muscular dystrophy: Muscle running out of controlLemmers, c. u. / van der Vliet, P. J. / Sacconi, S. / Camano, P. / Snider, L. / Geng, L. / van Ommen, G. J. / Padberg, G. W. / Miller, D. G. / Tapscott, S. J. et al. | 2011
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O.20 A mouse model that recapitulates features of facioscapulohumeral muscular dystrophyKrom, c. u. / den Hamer, B. / Snider, L. / Knopp, P. / Zammit, P. S. / Tapscott, S. J. / van der Maarel, S. M. et al. | 2011
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O.21 Cellular and molecular mechanisms of dysferlinopathy: New insightsBloch, c. u. / Ziman, A. / Kerr, J. / Ru, L. / Resneck, W. / Roche, J. A. et al. | 2011
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O.23 Anoctamin 5 (ANO5) subcellular localization in skeletal muscleConte, c. u. / Bolduc, V. / Lariviere, R. / Boycott, K. M. / Inoue, H. / Itakura, M. / Robitaille, Y. / Leblanc, N. / Mahjneh, I. / Bashir, R. et al. | 2011
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O.22 Dominant inheritance of limb girdle muscular dystrophy type 2AVissing, c. u. / Sveen, M. L. / Duno, M. et al. | 2011
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O.24 Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapiesRavenscroft, c. u. / Jackaman, C. / Bringans, S. / Papadimitriou, J. M. / Griffiths, L. M. / McNamara, E. / Bakker, A. J. / Davies, K. E. / Laing, N. G. / Nowak, K. J. et al. | 2011
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WMS online application form| 2011