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Nature Communications|December 19, 2018
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networksMelanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, et al.The Journal of Clinical Investigation|February 20, 2018
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutationsYouJin Lee, Per Harald Jonson, Jaakko Sarparanta, et al.Annals of Clinical and Translational Neurology|August 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Biorxiv : the Preprint Server for Biology|May 20, 2024
Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular DystrophyShruthi Mohan, Shannon McNulty, Courtney Thaxton, et al.Annals of Clinical and Translational Neurology|April 16, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium StudyStephanie M Hunn, Lindsay N Alfano, Aileen Jones, et al.Muscle & Nerve|April 16, 2022
Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophyJeffrey M Statland, Craig Campbell, Urvi Desai, et al.Annals of Clinical and Translational Neurology|December 15, 2024
Prospective observational study of FKRP-related limb-girdle muscular dystrophy R9: A GRASP consortium studyLindsay N Alfano, Meredith K James, Kristine Grosfjeld Petersen, et al.Neuromuscular Disorders : NMD|April 10, 2026
Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium studyStephanie M Hunn, Andrew R Findlay, Lindsay N Alfano, et al.Journal of Neurology, Neurosurgery, and Psychiatry|January 7, 2026
Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variantsChristopher J Record, Tiffany Grider, Adriana P Rebelo, et al.American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.Pageof 14