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Journal of Neuropathology and Experimental Neurology|September 9, 2021
High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy PatientsSilvia Torelli, Domenic Scaglioni, Valentina Sardone, et al.
Neuromuscular Disorders : NMD|July 20, 2010
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entityKristl G Claeys, Jean-François Pellissier, Federico Garcia-Bragado, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Journal of Neuromuscular Diseases|March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyStephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.
Brain : a Journal of Neurology|April 1, 2021
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDHDenisa Hathazi, Dan Cox, Adele D'Amico, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 28, 2025
Evaluation of professional practices in the use of mexiletine for the management of childhood myotonia in French pediatric neuromuscular centers (MEXI-PEDI survey)Sarah Barrière, Véronique Manel, Christine Barnerias, et al.
Brain : a Journal of Neurology|December 11, 2023
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosisJulia Zibold, Lola E R Lessard, Flavien Picard, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French seriesJustine Lerat, Corinne Magdelaine, Anne-Françoise Roux, et al.
Human Mutation|September 1, 2018
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibilityIrina T Zaharieva, Anna Sarkozy, Pinki Munot, et al.
Nature Genetics|November 3, 2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signalingNika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, et al.
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