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Neurology|March 16, 2018
A multinational study on motor function in early-onset FSHDJean K Mah, Jia Feng, Marni B Jacobs, et al.Molecular Genetics & Genomic Medicine|June 2, 2015
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approachIsabel Marques, Maria João Sá, Gabriela Soares, et al.Annals of Clinical and Translational Neurology|May 12, 2017
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathyMaie Walsh, Katrina M Bell, Belinda Chong, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 10, 2022
Clinical practice guideline for the management of paediatric Charcot-Marie-Tooth diseaseEppie M Yiu, Paula Bray, Jonathan Baets, et al.Brain : a Journal of Neurology|November 27, 2018
Development and validation of the Charcot-Marie-Tooth Disease Infant ScaleMelissa R Mandarakas, Manoj P Menezes, Kristy J Rose, et al.Steroids|November 20, 2025
Exposure-response of serum biomarkers to vamorolone, a dissociative corticosteroidal anti-inflammatory drug, in 4- to <7-year childrenSwati Mummidivarpu, Utkarsh J Dang, Michael Ziemba, et al.Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.International Journal of Molecular Sciences|January 21, 2022
Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial FunctionNicole J Van Bergen, Daniella H Hock, Lucy Spencer, et al.Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.Journal of Neurology|April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levelsEppie M Yiu, Geneieve Tai, Roger E Peverill, et al.Pageof 16