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Human Molecular Genetics|May 17, 2012
Variable phenotype of del45-55 Becker patients correlated with nNOSμ mislocalization and RYR1 hypernitrosylationChristel Gentil, France Leturcq, Rabah Ben Yaou, et al.Human Molecular Genetics|December 2, 2010
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA miceElisa Dominguez, Thibaut Marais, Nicolas Chatauret, et al.Annals of Neurology|October 27, 2004
Cardiac and respiratory failure in limb-girdle muscular dystrophy 2IMaja Poppe, John Bourke, Michelle Eagle, et al.Nature Medicine|January 19, 2023
A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxiaBalasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, et al.The EMBO Journal|December 25, 2009
DHPR alpha1S subunit controls skeletal muscle mass and morphogenesisFrance Piétri-Rouxel, Christel Gentil, Stéphane Vassilopoulos, et al.Neuromuscular Disorders : NMD|June 28, 2008
Caveolinopathy--new mutations and additional symptomsAhmed Aboumousa, Jessica Hoogendijk, Richard Charlton, et al.Molecular Therapy. Methods & Clinical Development|September 22, 2016
Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophyNicole Armbruster, Annalisa Lattanzi, Matthieu Jeavons, et al.The American Journal of Pathology|April 17, 2010
DNAJB2 expression in normal and diseased human and mouse skeletal muscleKristl G Claeys, Magdalena Sozanska, Jean-Jacques Martin, et al.Journal of Virology|April 13, 2012
Human galectin 3 binding protein interacts with recombinant adeno-associated virus type 6Jerome Denard, Cyriaque Beley, Robert Kotin, et al.Scientific Reports|April 30, 2017
Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1Christine Schwartz, Martina Fischer, Kamel Mamchaoui, et al.Pageof 16