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Proceedings of the National Academy of Sciences of the United States of America|June 16, 2026
Restoring the interplay between the endoplasmic reticulum and mitochondria by gene therapy improves Charcot-Marie-Tooth type 2A diseaseMarine Tessier, Zeinab Hamze, Nathalie Bonello-Palot, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutationJanice A Dominov, Özgün Uyan, Diane McKenna-Yasek, et al.
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.
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.
Brain : a Journal of Neurology|October 31, 2022
Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4HLara El-Bazzal, Adeline Ghata, Clothilde Estève, et al.
European Journal of Human Genetics : EJHG|February 5, 2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional studyFlorian Barthélémy, Claire Navarro, Racha Fayek, et al.
Human Molecular Genetics|June 20, 2013
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophyNatacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, et al.
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