… AM Rossor and MM Reilly researched data for the article. All authors provided substantial
contribution to discussion of content, to writing the article, and to review and/or editing of the …

Charcot‐Marie‐Tooth (CMT) disease is the commonest inherited neuromuscular disorder
affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in …

… Mary M Reilly1 … Correspondence to Professor Mary M Reilly, MRC Centre for
Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; m.…

… For genotoxin treatment, methyl methanesulfonate (Sigma-Aldrich) was added to the
culture medium to give a final concentration of 1 mM, and cells were exposed for 8 h. After …

Background Charcot–Marie–Tooth disease (CMT) is a clinically and genetically heterogeneous
group of diseases with approximately 45 different causative genes described. The aims …

The Charcot‐Marie‐Tooth neuropathy score (CMTNS) is a reliable and valid composite
score comprising symptoms, signs, and neurophysiological tests, which has been used in …

HSAN1 is an inherited neuropathy found to be associated with several missense mutations
in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation …

Background The international Inherited Neuropathy Consortium (INC) was created with the
goal of obtaining much needed natural history data for patients with Charcot-Marie-Tooth (…

Background A substantial impediment to progress in trials of new therapies in neuromuscular
disorders is the absence of responsive outcome measures that correlate with patient …

Background Ascorbic acid reduced the severity of neuropathy in transgenic mice overexpressing
peripheral myelin protein 22 (PMP22), a model of Charcot–Marie–Tooth disease type …