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Neuromuscular Disorders : NMD|February 19, 2014
Atypical phenotype in two patients with LAMA2 mutationsJoana Marques, Sofia T Duarte, Sónia Costa, et al.
Neuromuscular Disorders : NMD|October 20, 2018
Longitudinal pulmonary function testing outcome measures in Duchenne muscular dystrophy: Long-term natural history with and without glucocorticoidsCraig M McDonald, Heather Gordish-Dressman, Erik K Henricson, et al.
Neuromuscular Disorders : NMD|February 18, 2014
Novel mitofusin 2 splice-site mutation causes Charcot-Marie-Tooth disease type 2 with prominent sensory dysfunctionMika H Martikainen, Laura Kytövuori, Kari Majamaa
Neuromuscular Disorders : NMD|January 23, 2017
Congenital mirror movements in a patient with alpha-dystroglycanopathy due to a novel POMK mutationDidem Ardicli, Rahsan Gocmen, Beril Talim, et al.
Neuromuscular Disorders : NMD|May 30, 2008
Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathyEmma Blakely, Langping He, Julie L Gardner, et al.
Neuromuscular Disorders : NMD|May 30, 2008
Eight years experience with enzyme replacement therapy in two children and one adult with Pompe diseaseC I van Capelle, L P F Winkel, M L C Hagemans, et al.
Neuromuscular Disorders : NMD|May 27, 2008
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handleMay Christine Malicdan, Satoru Noguchi, Ikuya Nonaka, et al.
Neuromuscular Disorders : NMD|May 31, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians clusterIsabelle Gosselin, Isabelle Thiffault, Martine Tétreault, et al.
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