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A novel mutation in the mitochondrial tRNA Phe gene associated with mitochondrial myopathy

By Moslemi A.-R., Lindberg C., Toft J., Holme E., Kollberg G., Oldfors A. in (2004)

Elsevier

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2003 International Friedreich's Ataxia Research Conference, 14-16 February 2003, Bethesda, MD, USA

By Seznec H., Wilson R.B., Puccio H. in (2004)

Elsevier

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A-utrophin up-regulation in mdx skeletal muscle is independent of regeneration

By Weir A.P., Morgan J.E., Davies K.E. in (2004)

Elsevier

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Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation

By Yasaki E., Prioleau C., Barbier J., Richard P., Andreux F., Leroy J.-P., Dartevelle P., Koenig J., Molgo J., Fardeau M., Eymard B., Hantai D. in (2004)

Elsevier

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Changes in motor cortex excitability in facioscapulohumeral muscular dystrophy

By Di Lazzaro V., Oliviero A., Tonali P.A., Felicetti L., De Marco M.B.P., Saturno E., Pilato F., Pescatori M., Dileone M., Pasqualetti P., Ricci E. in (2004)

Elsevier

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Muscle MRI in adult-onset acid maltase deficiency

By Pichiecchio A., Uggetti C., Ravaglia S., Egitto M.G., Rossi M., Sandrini G., Danesino C. in (2004)

Elsevier

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117th ENMC Workshop: Ventilatory Support in Congenital Neuromuscular Disorders - Congenital Myopathies, Congenital Muscular Dystrophies, Congenital Myotonic Dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands

By Wallgren-Pettersson C., Bushby K., Mellies U., Simonds A. in (2004)

Elsevier

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Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)

By Tonini M.M.O., Passos-Bueno M.R., Cerqueira A., Matioli S.R., Pavanello R., Zatz M. in (2004)

Elsevier

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Clinical Neurology - Manson Publishing, 2002, ISBN 1-84076-010-9, 768 pages, £85.00

By Hankey G.J., Wardlaw J.M. in (2004)

Elsevier

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Muscular Dystrophy - the Facts - Alan E.H. Emery; 2nd ed.; Oxford University Press, 2000, 157 pages, paperback, ISBN 0-19-263217-5, £12.99

By Gazzard S. in (2004)

Elsevier

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