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Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.Genes|February 25, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation SequencingThibaut Benquey, Emmanuelle Pion, Mireille Cossée, et al.Neuromuscular Disorders : NMD|April 15, 2009
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementiaTanya Stojkovic, El Hadi Hammouda, Pascale Richard, et al.Muscle & Nerve|October 7, 2021
Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophyAbdallah Fayssoil, Lee S Nguyen, Tanya Stojkovic, et al.Journal of Neuromuscular Diseases|December 20, 2018
Echographic Assessment of Diaphragmatic Function in Duchenne Muscular Dystrophy from Childhood to AdulthoodAbdallah Fayssoil, Cendrine Chaffaut, Adam Ogna, et al.JAMA Neurology|February 7, 2018
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1Karim Wahbi, Raphaël Porcher, Pascal Laforêt, et al.Journal of Neurology, Neurosurgery, and Psychiatry|August 14, 2014
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificityMaya Tchikviladzé, Mylène Gilleron, Thierry Maisonobe, et al.Autophagy|October 8, 2020
Metformin rescues muscle function in BAG3 myofibrillar myopathy modelsAvnika A Ruparelia, Emily A McKaige, Caitlin Williams, et al.European Journal of Human Genetics : EJHG|April 19, 2019
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2Alessia Peretti, Maud Perie, Didier Vincent, et al.Annals of Clinical and Translational Neurology|March 19, 2026
Cracking the Code: Genotype-Phenotype Correlation Models in SarcoglycanopathiesLeonela Luce, Goknur Selen Kocak, José Verdú-Díaz, et al.Pageof 25