(Q83214867)

English

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

scientific article published on 16 January 2009

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scholarly article

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Europe PubMed Central

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20 January 2020

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

1 reference

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20 January 2020

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author name string

Akiko Abe

1

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20 January 2020

Chikahiko Numakura

2

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20 January 2020

Kayoko Saito

3

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20 January 2020

Hiroyoshi Koide

4

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20 January 2020

Nobuyuki Oka

5

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20 January 2020

Akira Honma

6

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20 January 2020

Yumiko Kishikawa

7

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20 January 2020

Kiyoshi Hayasaka

8

1 reference

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20 January 2020

publication date

16 January 2009

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20 January 2020

Journal of Human Genetics

1 reference

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20 January 2020

54

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20 January 2020

2

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20 January 2020

94-97

1 reference

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20 January 2020

https://scigraph.springernature.com/pub.10.1038/jhg.2008.13

0 references

Neuronal intermediate filaments

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurofilament protein synthesis and phosphorylation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Determinants of conduction velocity in myelinated nerve fibers

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Reduced diameter and conduction velocity of myelinated fibers in the sciatic nerve of a neurofilament-deficient mutant quail

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

The clinical features of hereditary motor and sensory neuropathy types I and II

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Neurofilament deficiency in quail caused by nonsense mutation in neurofilament-L gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2008.13

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/JHG.2008.13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158810%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158810%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

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