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Neuromuscular Disorders : NMD|November 19, 2013
Novel TPM3 mutation in a family with cap myopathy and review of the literatureT Schreckenbach, J M Schröder, T Voit, et al.Neuromuscular Disorders : NMD|June 26, 2010
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner patternN Deconinck, E Dion, R Ben Yaou, et al.Journal of Inherited Metabolic Disease|May 7, 2005
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyN M Verhoeven, M Wallot, J H J Huck, et al.Biochemical and Biophysical Research Communications|August 17, 2000
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 geneS M Budde, L P van den Heuvel, A J Janssen, et al.Neuromuscular Disorders : NMD|February 13, 2001
Autosomal dominant distal myopathy: further evidence of a chromosome 14 locusT Voit, P Kutz, B Leube, et al.Neuromuscular Disorders : NMD|July 26, 2008
Electron microscopy in myofibrillar myopathies reveals clues to the mutated geneK G Claeys, M Fardeau, R Schröder, et al.Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.Neuropediatrics|August 26, 2004
Congenital muscular dystrophy with short stature, proximal contractures and distal laxityE Mercuri, A Lampe, V Straub, et al.Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.American Journal of Human Genetics|October 10, 2001
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycanM Brockington, D J Blake, P Prandini, et al.Pageof 18