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Clinica Chimica Acta; International Journal of Clinical Chemistry|December 1, 2021
Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorderKhaoula Rochdi, Mathieu Cerino, Nathalie Da Silva, et al.Muscle & Nerve|April 10, 2014
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2AOihane Jaka, Margarita Azpitarte, Coro Paisán-Ruiz, et al.Journal of Neuromuscular Diseases|November 19, 2016
Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' CellsFlorian Barthélémy, Cédric Blouin, Nicolas Wein, et al.Plos One|June 6, 2012
Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathyWilliam Lostal, Marc Bartoli, Carinne Roudaut, et al.Human Mutation|January 4, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin geneGaelle Blandin, Christophe Beroud, Veronique Labelle, et al.Neuromuscular Disorders : NMD|January 24, 2007
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assayAstrid Milic, Nathalie Daniele, Hanns Lochmüller, et al.Human Molecular Genetics|May 16, 2019
Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1Lara El-Bazzal, Khalil Rihan, Nathalie Bernard-Marissal, et al.Plos Genetics|June 21, 2013
Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophyNathalie Caruso, Balàzs Herberth, Marc Bartoli, et al.Human Mutation|July 27, 2017
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophyKarine Nguyen, Francesca Puppo, Stéphane Roche, et al.Science Translational Medicine|September 24, 2010
A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathyMartin Krahn, Nicolas Wein, Marc Bartoli, et al.Pageof 8