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Editorial Board page IFC Full-Text PDF (48 KB)
Research papers
The PedsQL™ in pediatric patients with Spinal Muscular Atrophy: Feasibility, reliability, and validity of the Pediatric Quality of Life Inventory™ Generic Core Scales and Neuromuscular Module Susan T. Iannaccone, Linda S. Hynan, Anne Morton, Renee Buchanan, Christine A. Limbers, James W. Varni, the AmSMART Group pages 805-812 Abstract | Full Text | Full-Text PDF (189 KB)
Autosomal recessive inheritance of classic Bethlem myopathy A. Reghan Foley, Ying Hu, Yaqun Zou, Alexandra Columbus, John Shoffner, Diane M. Dunn, Robert B. Weiss, Carsten G. Bönnemann pages 813-817 Abstract | Full Text | Full-Text PDF (403 KB)
Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease Joshua Burns, Jacqueline Raymond, Robert Ouvrier pages 818-821 Abstract | Full Text | Full-Text PDF (173 KB)
Oestrogen receptor alpha gene intronic polymorphisms and autoimmune myasthenia gravis in Caucasian women Zsuzsanna Pal, Anikó Gal, Viktória Remenyi, Attila Tordai, Maria Judit Molnar pages 822-824 Abstract | Full Text | Full-Text PDF (135 KB)
The difficulty in confirming clinical diagnosis of myasthenia gravis in a seronegative patient: A possible neurophysiological approach P. Caliandro, A. Evoli, E. Stålberg, G. Granata, P. Tonali, L. Padua pages 825-827 Abstract | Full Text | Full-Text PDF (194 KB)
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations U. Schara, N. Barisic, M. Deschauer, C. Lindberg, V. Straub, N. Strigl-Pill, M. Wendt, A. Abicht, J.S. Müller, H. Lochmüller pages 828-832 Abstract | Full Text | Full-Text PDF (149 KB)
Antisense oligonucleotide therapeutics for iron–sulphur cluster deficiency myopathy Gittan Kollberg, Elisabeth Holme pages 833-836 Abstract | Full Text | Full-Text PDF (267 KB)
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity Roberto Massa, Alessandra Tessa, Maria Margollicci, Vanna Micheli, Andrea Romigi, Giulia Tozzi, Chiara Terracciano, Fiorella Piemonte, Giorgio Bernardi, Filippo M. Santorelli pages 837-840 Abstract | Full Text | Full-Text PDF (683 KB)
Neuromuscular disease presentation with three genetic defects involving two genomes Mazhor Al-Dosary, Roger G. Whittaker, Joanna Haughton, Robert McFarland, Judith Goodship, Douglass M. Turnbull, Robert W. Taylor pages 841-844 Abstract | Full Text | Full-Text PDF (350 KB)
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure S. Bohlega, G. Van Goethem, A. Al Semari, A. Löfgren, M. Al Hamed, C. Van Broeckhoven, M. Kambouris pages 845-848 Abstract | Full Text | Full-Text PDF (404 KB)
Myelin protein zero Val102fs mutation manifesting with isolated spinal root hypertrophy Corrado Marchini, Sandro Zambito Marsala, Matteo Bendini, Federica Taioli, Giuseppe Damante, Incoronata Renata Lonigro, Gian Maria Fabrizi pages 849-852 Abstract | Full Text | Full-Text PDF (518 KB)
Isolated inflammatory myopathy with rimmed vacuoles presenting with dropped head Hiroshi Kataoka, Kazuma Sugie, Mari Terashima, Munehisa Koizumi, Hirosei Horikawa, Ichizo Nishino, Ikuya Nonaka, Satoshi Ueno pages 853-855 Abstract | Full Text | Full-Text PDF (352 KB)
Myopathy secondary to intravascular large B-cell lymphoma C. Marini-Bettolo, R. Lane, P. Charles, K. Naresh, R. Nicholas, P. Singh, A. Cohen, P. Mackie, F. Roncaroli pages 856-859 Abstract | Full Text | Full-Text PDF (265 KB)
Workshop report
Patient Registries and Trial Readiness in Myotonic Dystrophy – TREAT-NMD/Marigold International Workshop Report Rachel Thompson, Benedikt Schoser, Darren G. Monckton, Karla Blonsky, Hanns Lochmüller pages 860-866 Full Text | Full-Text PDF (162 KB)
Meeting report
3rd Annual Dysferlin Conference 2–5 June 2009, Boston, Massachusetts, USA Douglas E. Albrecht, Nupur Garg, Laura E. Rufibach, Bradley A. Williams, Nilah Monnier, Esther Hwang, Plavi Mittal pages 867-873 Full Text | Full-Text PDF (177 KB)
WMS 2010 page I Full-Text PDF (295 KB)
WMS online application form page II Full-Text PDF (85 KB)
WMS News pages III-IV Full-Text PDF (497 KB)
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