• Publications
  • Influence
Reliability and validity of the CMT neuropathy score as a measure of disability
Objective: To determine the validity and reliability of the Charcot-Marie-Tooth disease (CMT) neuropathy score (CMTNS) in patients with inherited neuropathy. Background: Natural history studies andExpand
  • 325
  • 35
Quantitative sensory testing
Objective: This assessment evaluates the clinical utility, efficacy, and safety of quantitative sensory testing (QST). Methods: By searching MEDLINE, Current Contents, and their personal files, theExpand
  • 372
  • 21
Charcot‐marie‐tooth disease subtypes and genetic testing strategies
Charcot‐Marie‐Tooth disease (CMT) affects 1 in 2,500 people and is caused by mutations in more than 30 genes. Identifying the genetic cause of CMT is often necessary for family planning, naturalExpand
  • 281
  • 18
Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.
Axonal degeneration contributes to clinical disability in the acquired demyelinating disease multiple sclerosis. Axonal degeneration occurs during acute attacks, associated with inflammation, andExpand
  • 259
  • 17
  • PDF
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
Objective: To identify the gene responsible for 14q32-linked dominant spinal muscular atrophy with lower extremity predominance (SMA-LED, OMIM 158600). Methods: Target exon capture and nextExpand
  • 180
  • 17
Phenotypic clustering in MPZ mutations.
Myelin protein zero (MPZ) is a member of the immunoglobulin gene superfamily with single extracellular, transmembrane and cytoplasmic domains. Homotypic interactions between extracellular domains ofExpand
  • 249
  • 15
  • PDF
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
Mutations in GDAP1, the ganglioside-induced differentiation-associated protein 1 gene, cause Charcot-Marie-Tooth (CMT) type 4A, a severe autosomal recessive form of neuropathy associated with eitherExpand
  • 162
  • 13
  • PDF
Neuropathy progression in Charcot-Marie-Tooth disease type 1A
Objective: To determine the rate of disease progression in Charcot-Marie-Tooth disease type 1A (CMT1A). Background: CMT1A is the most common inherited peripheral neuropathy, affecting approximatelyExpand
  • 109
  • 11
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Mutations in mitofusin 2 (MFN2) have been reported in Charcot-Marie-Tooth type 2 (CMT2) families. To study the distribution of mutations in MFN2 we screened 323 families and isolated patients withExpand
  • 321
  • 10
  • PDF
Diagnosis and new treatments in genetic neuropathies
  • M. Reilly, M. Shy
  • Medicine
  • Journal of Neurology, Neurosurgery & Psychiatry
  • 16 November 2009
The genetic neuropathies are a clinically and genetically heterogeneous group of diseases of which the most common types are Charcot–Marie–Tooth disease (CMT), the hereditary sensory and autonomicExpand
  • 145
  • 10
  • PDF