Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease (Q34327040)

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Language	Label	Description	Also known as
English	Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Kazuki Kijima

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Chikahiko Numakura

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Emi Shirahata

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Yukio Sawaishi

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Mitsuteru Shimohata

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Shuichi Igarashi

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Tomohiro Tanaka

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Kiyoshi Hayasaka

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

12 June 2004

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Europe PubMed Central

PubMed publication ID

1 August 2017

Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

1 August 2017

49

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Europe PubMed Central

PubMed publication ID

1 August 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

376-379

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The causes of Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15197604

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-004-0162-3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

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