Charcot Marie Tooth disease type 4J with complex central nervous system features.

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Protective Role of the Lipid Phosphatase Fig4 in the Adult Nervous System.

P2860

Q52311182-0F70783E-7356-4CC1-8954-31258E2CB8DE

P2860

Charcot Marie Tooth disease type 4J with complex central nervous system features.

Item

http://www.wikidata.org/entity/Q50320192

description

2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh-hant

name

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@en

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@nl

type

Item

label

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@en

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@nl

prefLabel

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@en

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@nl

P1476

Charcot Marie Tooth disease type 4J with complex central nervous system features.

@en

P2093

Carly E Siskind

http://www.w3.org/2001/XMLSchema#string

James P Orengo

http://www.w3.org/2001/XMLSchema#string

John W Day

http://www.w3.org/2001/XMLSchema#string

Jun Li

http://www.w3.org/2001/XMLSchema#string

Pravin Khemani

http://www.w3.org/2001/XMLSchema#string

P2860

ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis.

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.

Fig4 expression in the rodent nervous system and its potential role in preventing abnormal lysosomal accumulation.

P304

222-225

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/ACN3.525

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2018-01-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

29468183

http://www.w3.org/2001/XMLSchema#string

P932

5817837

http://www.w3.org/2001/XMLSchema#string

Charcot Marie Tooth disease type 4J with complex central nervous system features.

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P2860

P2860

Charcot Marie Tooth disease type 4J with complex central nervous system features.

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932