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Neuromuscular Disorders : NMD|March 17, 2007
A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndromePascale Richard, Karen Gaudon, Emmanuel Fournier, et al.
Neuromuscular Disorders : NMD|September 2, 2006
Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1)William Wallefeld, Sabine Krause, Kristen J Nowak, et al.
Neuromuscular Disorders : NMD|September 29, 2006
Muscle cell and motor protein function in patients with a IIa myosin missense mutation (Glu-706 to Lys)M Li, A Lionikas, F Yu, et al.
Neuromuscular Disorders : NMD|December 5, 2006
The Dutch neuromuscular database CRAMP (Computer Registry of All Myopathies and Polyneuropathies): development and preliminary dataB G M van Engelen, H van Veenendaal, P A van Doorn, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysisStefania Petrini, Adele D'Amico, Patrizio Sale, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Upregulation of the creatine synthetic pathway in skeletal muscles of mature mdx miceWarren C McClure, Rick E Rabon, Hirofumi Ogawa, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Mitochondrial myopathy associated with a novel mutation in mtDNAJacklyn Pancrudo, Sara Shanske, Jorida Coku, et al.
Neuromuscular Disorders : NMD|June 26, 2007
Reduced quantitative muscle function in tenascin-X deficient Ehlers-Danlos patientsN C Voermans, T M Altenburg, B C Hamel, et al.
Neuromuscular Disorders : NMD|August 28, 2007
Myoglobinuria in boys with Duchenne muscular dystrophy on corticosteroid therapyP Garrood, M Eagle, P E Jardine, et al.
Neuromuscular Disorders : NMD|July 24, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patientsWolfgang Müller-Felber, Rita Horvath, Klaus Gempel, et al.
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