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Journal of Neurology|July 22, 2015
Frequent misdiagnosis of adult polyglucosan body diseaseMark A Hellmann, Or Kakhlon, Ezekiel H Landau, et al.Human Mutation|June 17, 2015
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSFCsilla H Lazar, Adva Kimchi, Prasanthi Namburi, et al.Neurogenetics|July 31, 2007
Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab familiesNizar Elleuch, Naima Bouslam, Sylvain Hanein, et al.Archives of Neurology|April 13, 2005
Early clinical heterogeneity in choreoacanthocytosisAlexander Lossos, Carol Dobson-Stone, Anthony P Monaco, et al.Journal of Clinical Neuromuscular Disease|August 23, 2017
Characterization of Strength and Function in Ambulatory Adults With GNE MyopathyZohar Argov, Faye Bronstein, Alicia Esposito, et al.Human Mutation|March 26, 2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyPhillipa J Lamont, William Wallefeld, David Hilton-Jones, et al.Pageof 6