Axonal Charcot-Marie-Tooth Disease and the Neurofilament Light Gene (NF-L)
- 1 July 2000
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 67 (1), 8-10
- https://doi.org/10.1086/302986
Abstract
No abstract availableThis publication has 27 references indexed in Scilit:
- N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–LomAmerican Journal of Human Genetics, 2000
- A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light GeneAmerican Journal of Human Genetics, 2000
- Neurofilament functions in health and diseaseCurrent Opinion in Neurobiology, 1999
- Hereditary Peripheral Neuropathies: Clinical Forms, Genetics, and Molecular MechanismsAnnual Review of Medicine, 1999
- Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.Journal of Neurology, Neurosurgery & Psychiatry, 1997
- A new type of hereditary motor and sensory neuropathy linked to chromosome 3Annals of Neurology, 1997
- Aberrant Stress-induced Phosphorylation of Perikaryal NeurofilamentsPublished by Elsevier ,1996
- Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)Human Molecular Genetics, 1996
- Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic HeterogeneityGenomics, 1993
- Self-assembly in vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filamentsJournal of Molecular Biology, 1981