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Neuromuscular Disorders : NMD|February 21, 2006
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosisPascal Laforêt, Pascale Richard, Mina Ait Said, et al.
European Heart Journal|April 30, 2005
Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathyJean F Forissier, Philippe Charron, Sophie Tezenas du Montcel, et al.
Neuromuscular Disorders : NMD|June 14, 2017
Diaphragmatic dysfunction in SEPN1-related myopathySerena Caggiano, Sonia Khirani, Ivana Dabaj, et al.
Neuromuscular Disorders : NMD|February 6, 2010
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domainLuis Vernengo, Oussama Chourbagi, Ana Panuncio, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Journal of Neuromuscular Diseases|November 19, 2016
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related DiseasesIsabelle Nelson, Tanya Stojkovic, Valérie Allamand, et al.
Heart (British Cardiac Society)|June 23, 2026
Cardiac and extracardiac outcomes after heart transplantation in laminopathiesGauthier Giordano, Guillaume Coutance, Karim Wahbi, et al.
Brain & Development|December 22, 2005
Brain MRI abnormalities in muscular dystrophy due to FKRP mutationsSusana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, et al.
Annals of Neurology|May 4, 2004
Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N geneAna Ferreiro, Chantal Ceuterick-de Groote, Jared J Marks, et al.
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