Clinical implications of genetic advances in Charcot–Marie–Tooth disease
Abstract Charcot–Marie–Tooth disease (CMT) refers to a group of inherited neuropathies
with a broad range of phenotypes, inheritance patterns and causative genes. The number of …
with a broad range of phenotypes, inheritance patterns and causative genes. The number of …
Charcot‐Marie‐tooth disease
MM Reilly, SM Murphy, M Laurá - Journal of the peripheral …, 2011 - Wiley Online Library
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 …
affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in …
The distal hereditary motor neuropathies
AM Rossor, B Kalmar, L Greensmith… - Journal of Neurology …, 2012 - jnnp.bmj.com
The distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of
diseases that share the common feature of a length-dependent predominantly motor …
diseases that share the common feature of a length-dependent predominantly motor …
Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
Background Charcot–Marie–Tooth disease (CMT) is a clinically and genetically
heterogeneous group of diseases with approximately 45 different causative genes …
heterogeneous group of diseases with approximately 45 different causative genes …
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Late-onset ataxia is common, often idiopathic, and can result from cerebellar, proprioceptive,
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …
or vestibular impairment; when in combination, it is also termed cerebellar ataxia …
[HTML][HTML] Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids*♦
A Penno, MM Reilly, H Houlden, M Laurá… - Journal of biological …, 2010 - ASBMB
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 …
in the SPTLC1 subunit of serine palmitoyltransferase (SPT). SPT catalyzes the condensation …
Reliability of the CMT neuropathy score (second version) in Charcot‐Marie‐Tooth disease
SM Murphy, DN Herrmann… - Journal of the …, 2011 - Wiley Online Library
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 …
score comprising symptoms, signs, and neurophysiological tests, which has been used in …
[HTML][HTML] MRI biomarker assessment of neuromuscular disease progression: a prospective observational cohort study
JM Morrow, CDJ Sinclair, A Fischmann… - The Lancet …, 2016 - thelancet.com
Background A substantial impediment to progress in trials of new therapies in
neuromuscular disorders is the absence of responsive outcome measures that correlate with …
neuromuscular disorders is the absence of responsive outcome measures that correlate with …
[HTML][HTML] Ascorbic acid in Charcot–Marie–Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial
D Pareyson, MM Reilly, A Schenone… - The Lancet …, 2011 - thelancet.com
Background Ascorbic acid reduced the severity of neuropathy in transgenic mice
overexpressing peripheral myelin protein 22 (PMP22), a model of Charcot–Marie–Tooth …
overexpressing peripheral myelin protein 22 (PMP22), a model of Charcot–Marie–Tooth …
Plasma neurofilament light chain concentration in the inherited peripheral neuropathies
Ċ Sandelius, H Zetterberg, K Blennow, R Adiutori… - Neurology, 2018 - AAN Enterprises
Objective To perform a cross-sectional study to determine whether plasma neurofilament
light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease …
light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease …