(Q34327040)

1 August 2017

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease (English)

1 reference

1 August 2017

Kazuki Kijima

1

1 reference

1 August 2017

Chikahiko Numakura

2

1 reference

1 August 2017

Emi Shirahata

3

1 reference

1 August 2017

Yukio Sawaishi

4

1 reference

1 August 2017

Mitsuteru Shimohata

5

1 reference

1 August 2017

Shuichi Igarashi

6

1 reference

1 August 2017

Tomohiro Tanaka

7

1 reference

1 August 2017

Kiyoshi Hayasaka

8

1 reference

1 August 2017

12 June 2004

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Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

49

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1 August 2017

7

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1 August 2017

376-379

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https://scigraph.springernature.com/pub.10.1007/s10038-004-0162-3

1 August 2017

0 references

cites work

The function of the Periaxin gene during nerve repair in a model of CMT4F.

1 reference

12 December 2020

Screening of the early growth response 2 gene in Japanese patients with Charcot–Marie–Tooth disease type 1

1 reference

12 December 2020

A tripartite nuclear localization signal in the PDZ-domain protein L-periaxin

1 reference

12 December 2020

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

1 reference

12 December 2020

Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy

1 reference

12 December 2020

Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment

1 reference

12 December 2020

Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations

1 reference

12 December 2020

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

1 reference

12 December 2020

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

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12 December 2020

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

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12 December 2020

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.

1 reference

12 December 2020

Congenital hypomyelination neuropathy: decreased expression of the P2 protein in peripheral nerve with normal DNA sequence of the coding region

1 reference

12 December 2020

The causes of Charcot-Marie-Tooth disease

1 reference

12 December 2020

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

1 reference

12 December 2020

Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development

1 reference

12 December 2020

10.1007/S10038-004-0162-3

Identifiers

DOI

1 reference

1 August 2017

1 reference