ArticleActa neuropathologica1994
Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.
Article in Acta neuropathologica, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 56 citations in OpenAlex.
- A novel mouse model of CMT1B identifies hyperglycosylation as a new pathogenetic mechanism.Human molecular genetics · 2022Article
- Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.Journal of neurology · 2016Article
- Functional recovery of regenerating motor axons is delayed in mice heterozygously deficient for the myelin protein P(0) gene.Neurochemical research · 2013Article
- Neuropathology of Charcot-Marie-Tooth and related disorders.Neuromolecular medicine · 2006Review
- Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.The Journal of cell biology · 2004Article
- Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.The Journal of cell biology · 2000Article
- Clinical syndromes associated with tomacula or myelin swellings in sural nerve biopsies.Journal of neurology, neurosurgery, and psychiatry · 2000Article
- Immune deficiency in mouse models for inherited peripheral neuropathies leads to improved myelin maintenance.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2000Article
- Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy.Journal of neurology, neurosurgery, and psychiatry · 1999Article
- Atypical hereditary neuropathy with liability to pressure palsies (HNPP): the value of direct DNA diagnosis.Journal of medical genetics · 1997Article
- Animal models for inherited peripheral neuropathies.Journal of anatomy · 1997Review
- Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1997Article
- Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot-Marie-Tooth disease, type 1A.Journal of neurology, neurosurgery, and psychiatry · 1996Article
- Molecular anatomy and genetics of myelin proteins in the peripheral nervous system.Journal of anatomy · 1995Review
- Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.Journal of neurology, neurosurgery, and psychiatry · 1995Review
- Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.Human genetics · 1994Article
- Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.Human genetics · 1993Article
- Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region.Human genetics · 1991Article
- Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.Human genetics · 1991Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
We performed morphological and immunohistochemical studies on sural nerve biopsies from two members of a Charcot-Marie-Tooth type 1B family, in which a mutation of the P0 gene on chromosome 1 had been found. Biopsies showed a tomaculous neuropathy with loss of myelinated fibers and frequent small onion bulbs. Immunofluorescence with antibodies to P0 showed this protein to be present in tomaculous and non-tomaculous areas of the myelin sheath. The severity of the myelin abnormalities suggests that in this family Charcot-Marie-Tooth disease may result from a generalized disturbance of Schwann cells as a result of an abnormal P0 protein.
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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.