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Neuromuscular Disorders : NMD|October 13, 2012
Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositisJulia V Wanschitz, Odile Dubourg, Emmanuelle Lacene, et al.American Journal of Human Genetics|August 23, 2002
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathiesAna Ferreiro, Susana Quijano-Roy, Claire Pichereau, et al.Human Molecular Genetics|December 14, 2012
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposisKlaus Dieterich, Susana Quijano-Roy, Nicole Monnier, et al.Annals of Neurology|April 21, 2007
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac, Mustafa A M Salih, Susana Quijano-Roy, et al.Neurology|August 16, 2020
The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: A case seriesRocio N Villar-Quiles, Maja von der Hagen, Corinne Métay, et al.Archives of Neurology|August 19, 2007
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypesKarine Nguyen, Guillaume Bassez, Martin Krahn, et al.Neuromuscular Disorders : NMD|May 29, 2016
Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1Damien Bachasson, Amélie Moraux, Gwenn Ollivier, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|July 9, 2013
Autologous myoblast transplantation for oculopharyngeal muscular dystrophy: a phase I/IIa clinical studySophie Périé, Capucine Trollet, Vincent Mouly, et al.Journal of Neuromuscular Diseases|November 14, 2022
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMDTanya Stojkovic, Marion Masingue, Corinne Métay, et al.Human Molecular Genetics|November 26, 2025
C-terminal extension of HSPB6 in a family with myopathy and cataractJaakko Sarparanta, Per Harald Jonson, Anna Vihola, et al.Pageof 26