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Plos Genetics|July 21, 2016
Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Megan H Brewer, Rabia Chaudhry, Jessica Qi, et al.Neurology. Genetics|April 12, 2016
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 lossAshley P L Marsh, Vesna Lukic, Kate Pope, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 18, 2018
Nusinersen for SMA: expanded access programmeMichelle A Farrar, Hooi Ling Teoh, Kate A Carey, et al.Brain : a Journal of Neurology|August 21, 2016
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasiaJijun Wan, Janos Steffen, Michael Yourshaw, et al.Annals of Clinical and Translational Neurology|May 30, 2019
Neurofilament as a potential biomarker for spinal muscular atrophyBasil T Darras, Thomas O Crawford, Richard S Finkel, et al.Neuromuscular Disorders : NMD|May 28, 2019
Recessive MYH7-related myopathy in two familiesSarah J Beecroft, Martijn van de Locht, Josine M de Winter, et al.Cell Reports|February 2, 2018
DCC Is Required for the Development of Nociceptive Topognosis in Mice and HumansRonan V da Silva, Helge C Johannssen, Matthias T Wyss, et al.Brain : a Journal of Neurology|November 26, 2013
Natural history of pulmonary function in collagen VI-related myopathiesA Reghan Foley, Susana Quijano-Roy, James Collins, et al.Journal of Paediatrics and Child Health|June 5, 2013
High resolution chromosomal microarray in undiagnosed neurological disordersKatherine B Howell, Andrew J Kornberg, A Simon Harvey, et al.Plos One|January 25, 2024
A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx miceIan R Woodcock, George Tachas, Nuket Desem, et al.Pageof 16