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Neurology. Genetics|December 25, 2019
Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicismStéphane Roche, Camille Dion, Natacha Broucqsault, et al.Muscle & Nerve|March 4, 2017
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencingMathieu Cerino, Svetlana Gorokhova, Pascal Laforet, et al.Human Mutation|January 24, 2015
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotypeFrancesca Puppo, Eugenie Dionnet, Marie-Cécile Gaillard, et al.The Spine Journal : Official Journal of the North American Spine Society|July 17, 2013
Biomechanical constraints remain major risk factors for low back pain. Results from a prospective cohort study in French male employeesAline Ramond-Roquin, Julie Bodin, Céline Serazin, et al.Science Advances|June 19, 2024
Late Neolithic collective burial reveals admixture dynamics during the third millennium BCE and the shaping of the European genomeOğuzhan Parasayan, Christophe Laurelut, Christine Bôle, et al.Human Gene Therapy. Clinical Development|June 1, 2013
The phenotype of dysferlin-deficient mice is not rescued by adeno-associated virus-mediated transfer of anoctamin 5François Monjaret, Laurence Suel-Petat, Nathalie Bourg-Alibert, et al.British Journal of Pharmacology|March 20, 2025
High-throughput screening identifies bazedoxifene as a potential therapeutic for dysferlin-deficient limb girdle muscular dystrophyCeline Bruge, Nathalie Bourg, Emilie Pellier, et al.BMC Medical Genetics|September 17, 2016
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case reportMarie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, et al.Neurology|July 18, 2014
Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriersMarie-Cécile Gaillard, Stéphane Roche, Camille Dion, et al.American Journal of Human Genetics|July 30, 2002
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titinPeter Hackman, Anna Vihola, Henna Haravuori, et al.Pageof 23