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Clinical Genetics|January 25, 2021
Two intronic cis-acting variants in both alleles of the POLR3A gene cause progressive spastic ataxia with hypodontiaAvi Fellner, Alexander Lossos, Elena Kogan, et al.
Brain : a Journal of Neurology|November 19, 2004
A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12Alexander Lossos, Lekbir Baala, Dov Soffer, et al.
Biochemical and Biophysical Research Communications|January 27, 2005
No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutationIlan Salama, Stephan Hinderlich, Zipora Shlomai, et al.
Human Mutation|December 24, 2002
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadricepsIris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, et al.
European Journal of Human Genetics : EJHG|November 7, 2013
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutationsHoma Tajsharghi, Simon Hammans, Christopher Lindberg, et al.
Archives of Neurology|May 10, 2006
Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander Lossos, Giovanni Stevanin, Vardiella Meiner, et al.
European Journal of Neurology|June 13, 2025
What Are the Normal Serum Creatine Kinase Values for Skeletal Muscle? A Worldwide Systematic ReviewKatina Aleksovska, Theodoros Kyriakides, Corrado Angelini, et al.
Journal of Neurology|August 9, 2011
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndromeAmina Chaouch, Juliane S Müller, Velina Guergueltcheva, et al.
Neuromuscular Disorders : NMD|December 28, 2016
Congenital myasthenic syndrome in Israel: Genetic and clinical characterizationSharon Aharoni, Menachem Sadeh, Yehuda Shapira, et al.
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