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Journal of Neuromuscular Diseases|February 6, 2026
A randomized, double-blind, placebo-controlled study of losmapimod in patients with facioscapulohumeral muscular dystrophy: Results of the REACH studyNicol C Voermans, Jeffrey M Statland, Lawrence J Hayward, et al.Journal of Neurology|May 11, 2015
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohortFabiana Fattori, Lorenzo Maggi, Claudio Bruno, et al.Journal of Neurology, Neurosurgery, and Psychiatry|September 11, 2017
MRI in sarcoglycanopathies: a large international cohort studyGiorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, et al.Brain : a Journal of Neurology|July 24, 2024
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progressionAlexandra Monceau, Rasya Gokul Nath, Xavier Suárez-Calvet, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephalyFrancesca Clementina Radio, Giorgio Tasca, Sandra Coppens, et al.JAMA Neurology|February 14, 2018
Interpreting Genetic Variants in Titin in Patients With Muscle DisordersMarco Savarese, Lorenzo Maggi, Anna Vihola, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 12, 2020
Genotype-phenotype correlations in recessive titinopathiesMarco Savarese, Anna Vihola, Emily C Oates, et al.Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.Annals of Clinical and Translational Neurology|December 31, 2025
Whole-Body Pattern of Muscle Degeneration and Progression in SarcoglycanopathiesLaura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, et al.Clinical Epigenetics|October 23, 2024
Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patientsClaudia Strafella, Domenica Megalizzi, Giulia Trastulli, et al.Pageof 16