(Q39785427)

14 September 2017

0 references

Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L) (English)

1 reference

14 September 2017

Lupski JR

1

1 reference

PMC publication ID

1287104

14 September 2017

language of work or name

English

0 references

publication date

7 June 2000

1 reference

American Journal of Human Genetics

14 September 2017

1 reference

14 September 2017

67

1 reference

14 September 2017

1

1 reference

14 September 2017

8-10

1 reference

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Neurofilament functions in health and disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Neurofilament triplet protein interactions: evidence for the preferred formation of NF-L-containing dimers and a putative function for the end domains.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

A mutant neurofilament subunit causes massive, selective motor neuron death: implications for the pathogenesis of human motor neuron disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Myelin-associated glycoprotein is a myelin signal that modulates the caliber of myelinated axons.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Mitogen-activated protein kinases (Erk1,2) phosphorylate Lys-Ser-Pro (KSP) repeats in neurofilament proteins NF-H and NF-M.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Self-assembly in Vitro of the 68,000 molecular weight component of the mammalian neurofilament triplet proteins into intermediate-sized filaments

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287104

Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells

20 August 2018

1 reference

12 December 2020

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

1 reference

12 December 2020

Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1

1 reference

12 December 2020

Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy

1 reference

12 December 2020

Aberrant neurofilament phosphorylation in sensory neurons of rats with diabetic neuropathy

1 reference

12 December 2020

Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13

1 reference

12 December 2020

Aberrant stress-induced phosphorylation of perikaryal neurofilaments

1 reference

12 December 2020

A new type of hereditary motor and sensory neuropathy linked to chromosome 3

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study

1 reference

12 December 2020

Axonal pathology in demyelinating diseases

1 reference

12 December 2020

Effects of PMP22 duplication and deletions on the axonal cytoskeleton

1 reference

12 December 2020

Identifiers

DOI

10.1086/302986

1 reference

14 September 2017

1 reference

PMC publication ID

1287104

14 September 2017

PubMed publication ID

10848490

1 reference

PMC publication ID

1287104