(Q35870645)

10 August 2017

Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E (English)

1 reference

10 August 2017

J M Dale

1

1 reference

10 August 2017

E Villalon

2

1 reference

10 August 2017

S G Shannon

3

1 reference

10 August 2017

D M Barry

4

1 reference

10 August 2017

R M Markey

5

1 reference

10 August 2017

V B Garcia

6

1 reference

10 August 2017

M L Garcia

7

1 reference

10 August 2017

language of work or name

English

0 references

publication date

23 February 2012

1 reference

Genes, Brain and Behavior

10 August 2017

1 reference

10 August 2017

11

1 reference

10 August 2017

3

1 reference

10 August 2017

360-365

1 reference

Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Charcot-Marie-Tooth disease: a clinico-genetic confrontation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

New movements in neurofilament transport, turnover and disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Medication-induced exacerbation of neuropathy in Charcot Marie Tooth disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Subunit composition of neurofilaments specifies axonal diameter.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Neurofilaments are obligate heteropolymers in vivo

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Population frequencies of inherited neuromuscular diseases—A world survey

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

Reversal of neuropathy phenotypes in conditional mouse model of Charcot-Marie-Tooth disease type 2E.

11 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2012.00771.X

Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2012.00771.X

Automated quantitative gait analysis during overground locomotion in the rat: its application to spinal cord contusion and transection injuries

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2012.00771.X

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2012.00771.X

Severe neuronal losses with age in the parietal cortex and ventrobasal thalamus of mice transgenic for the human NF-L neurofilament protein

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3319473

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

24 September 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2012.00771.X

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1601-183X.2012.00771.X

Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals

21 January 2018

1 reference

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

Stepwise motor and all-or-none sensory recovery is associated with nonlinear sparing after incremental spinal cord injury in rats

1 reference

12 December 2020

Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype

1 reference

12 December 2020

10.1111/J.1601-183X.2012.00771.X

Identifiers

DOI

1 reference

10 August 2017

1 reference

10 August 2017

PubMed publication ID

22288874

1 reference