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Journal of Neurology|February 4, 2012
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohortG L Davidson, S M Murphy, J M Polke, et al.
Brain : a Journal of Neurology|October 26, 2020
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS familiesCarolin K Scriba, Sarah J Beecroft, Joshua S Clayton, et al.
Neuromuscular Disorders : NMD|September 29, 2019
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centreEnrico Bugiardini, Alaa M Khan, Rahul Phadke, et al.
Human Genetics|November 2, 2019
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pairAlejandro Horga, Catherine E Woodward, Alberto Mills, et al.
Nature Metabolism|January 29, 2024
Obesity causes mitochondrial fragmentation and dysfunction in white adipocytes due to RalA activationWenmin Xia, Preethi Veeragandham, Yu Cao, et al.
Brain : a Journal of Neurology|June 25, 2024
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestationsGage P Kosmanopoulos, Jack K Donohue, Maya Hoke, et al.
Muscle & Nerve|April 27, 2019
Balance impairment in pediatric charcot-marie-tooth diseaseTimothy Estilow, Allan M Glanzman, Joshua Burns, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|April 19, 2019
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1Umaiyal Kugathasan, Matthew R B Evans, Jasper M Morrow, et al.
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