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Annals of Clinical and Translational Neurology|December 14, 2019
Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1AHongge Wang, Matthew Davison, Kathryn Wang, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|September 14, 2021
Charcot-Marie-Tooth disease type 2CC due to <i>NEFH</i> variants causes a progressive, non-length-dependent, motor-predominant phenotypeMenelaos Pipis, Andrea Cortese, James M Polke, 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.
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
Neuroreport|February 29, 1996
Complete analysis of the presenilin 1 gene in early onset Alzheimer's diseaseM Hutton, F Busfield, M Wragg, et al.
Neuroscience Letters|March 17, 1999
Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutationsH Houlden, P Rizzu, M Stevens, et al.
Neuromuscular Disorders : NMD|September 13, 2023
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosisDiana Esteller, Jasper Morrow, Jorge Alonso-Pérez, et al.
Annals of Clinical and Translational Neurology|January 4, 2024
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2ACarolynne M Doherty, Jasper M Morrow, Riccardo Zuccarino, et al.
Nature Genetics|March 31, 2019
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxiaAndrea Cortese, Roberto Simone, Roisin Sullivan, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
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