NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. (Q45395001)

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13 January 2020

title

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1 (English)

1 reference

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13 January 2020

8

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13 January 2020

author name string

Ji Soo Shin

1

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13 January 2020

Ki Wha Chung

2

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13 January 2020

Sun Young Cho

3

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13 January 2020

Jiyoung Yun

4

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13 January 2020

Su Jin Hwang

5

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13 January 2020

Sung Hee Kang

6

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13 January 2020

En Min Cho

7

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13 January 2020

Byung-Ok Choi

9

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publication date

29 August 2008

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Journal of Human Genetics

13 January 2020

published in

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13 January 2020

volume

53

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13 January 2020

issue

10

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13 January 2020

page(s)

936-940

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https://scigraph.springernature.com/pub.10.1007/s10038-008-0333-8

13 January 2020

exact match

0 references

cites work

Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10038-008-0333-8

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

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

10.1007/S10038-008-0333-8

Identifiers

DOI

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Dimensions Publication ID

13 January 2020

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