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Orphanet Journal of Rare Diseases|October 17, 2021
A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1AShahram Attarian, Peter Young, Thomas H Brannagan, et al.Muscle & Nerve|November 3, 2009
Clinical findings in MuSK-antibody positive myasthenia gravis: a U.S. experienceMamatha Pasnoor, Gil I Wolfe, Sharon Nations, et al.Journal of Neuro-Oncology|January 15, 2024
Presentation and outcomes of paediatric craniopharyngioma in the west of Scotland: a 25 year experienceXuan Ye Chanel Kuah, Angela K Lucas-Herald, Sarah McCarrison, et al.Human Molecular Genetics|June 20, 2013
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth diseaseHamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, et al.Arthritis Care & Research|March 6, 2026
Standardized Interoperable Data Collection for Myositis Research: Developing Expert Consensus on Common Data Elements for Myositis Outcome MeasuresDidem Saygin, Matthew Diller, Varsha Surampudi, et al.Heart Rhythm|May 2, 2022
2022 HRS expert consensus statement on evaluation and management of arrhythmic risk in neuromuscular disordersWilliam J Groh, Deepak Bhakta, Gordon F Tomaselli, et al.Pageof 3