ArticleAmerican journal of human genetics1995
Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
30 citing papers in PubMed, 146 citations in OpenAlex.
- Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot-Marie-Tooth 2B Disease.Biomolecules · 2023Review
- Article
- Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling?International journal of molecular sciences · 2017Review
- Fly model causes neurological rethink.eLife · 2013Article
- Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- Inherited peripheral neuropathies.Neurologic clinics · 2013Review
- Mechanisms of disease in hereditary sensory and autonomic neuropathies.Nature reviews. Neurology · 2012Review
- Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Current neurology and neuroscience reports · 2011Review
- Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.Brain : a journal of neurology · 2009Article
- Hereditary sensory neuropathy type I.Orphanet journal of rare diseases · 2008Review
- Molecular genetics of hereditary sensory neuropathies.Neuromolecular medicine · 2006Review
- A locus for hereditary sensory neuropathy with cough and gastroesophageal reflux on chromosome 3p22-p24.American journal of human genetics · 2003Article
- Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.American journal of human genetics · 2003Article
- Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis.The Journal of clinical investigation · 2002Article
- The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.Current neurology and neuroscience reports · 2002Review
- Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.American journal of human genetics · 2001Article
- An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).Journal of neurology, neurosurgery, and psychiatry · 2000Article
- A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.American journal of human genetics · 2000Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. In some families, the locus that predisposes to CMT2 has been demonstrated to map to the distal portion of the short arm of chromosome 1. Other families with CMT2 do not show linkage with 1p markers, suggesting genetic heterogeneity in CMT2. We investigated linkage in a single large kindred with autosomal dominant CMT2. The gene responsible for CMT2 in this kindred (CMT2B) was mapped to the interval between the microsatellite markers D3S1769 and D3S1744 in the 3q13-22 region. Study of additional CMT2 kindreds should serve to further refine the disease gene region and may ultimately lead to the identification of a gene defect that underlies the CMT2 phenotype.
Indexed as
Identifiers
7573046PMC1801519W1526961479What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.