Clinical implications of genetic advances in Charcot–Marie–Tooth disease

AM Rossor, JM Polke, H Houlden… - Nature Reviews …, 2013 - nature.com
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 …

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 …

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 …

Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

SM Murphy, M Laura, K Fawcett, A Pandraud… - Journal of Neurology …, 2012 - jnnp.bmj.com
Background Charcot–Marie–Tooth disease (CMT) is a clinically and genetically
heterogeneous group of diseases with approximately 45 different causative genes …

How much work-related injury and illness is missed by the current national surveillance system?

KD Rosenman, A Kalush, MJ Reilly… - … of occupational and …, 2006 - journals.lww.com
Objective: We sought to estimate the undercount in the existing national surveillance system
of occupational injuries and illnesses. Methods: Adhering to the strict confidentiality rules of …

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

A Cortese, R Simone, R Sullivan, J Vandrovcova… - Nature …, 2019 - nature.com
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 …

[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 …

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 …

Sexual harassment of university students

ME Reilly, B Lott, SM Gallogly - Sex Roles, 1986 - Springer
The sexual harassment of junior, senior, and graduate student women and men by male and
female professors, graduate assistants, and staff was investigated to determine students' …

[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 …