A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

about

A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth.

P2860

Q42267389-F51A8240-BF69-4481-9242-5C1B0EA3BC39 Q49523386-C95787E4-B183-44A0-A54A-DE44C53203D7

P2860

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

Item

http://www.wikidata.org/entity/Q41295377

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

A Novel Missense Mutation in P ...... s Charcot-Marie-Tooth Disease.

@en

type

Item

label

A Novel Missense Mutation in P ...... s Charcot-Marie-Tooth Disease.

@en

prefLabel

A Novel Missense Mutation in P ...... s Charcot-Marie-Tooth Disease.

@en

P1476

A Novel Missense Mutation in P ...... s Charcot-Marie-Tooth Disease.

@en

P2093

Bao-Guo Xiao

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

Hai-Lin Dong

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

Li-Xi Li

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

Zhi-Ying Wu

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

P2860

Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

A brief review of recent Charcot-Marie-Tooth research and priorities

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases

Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22

The PMP22 gene and its related diseases.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Inducible HSP70 is critical in preventing the aggregation and enhancing the processing of PMP22.

The formation of peripheral myelin protein 22 aggregates is hindered by the enhancement of autophagy and expression of cytoplasmic chaperones

Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy

P304

1779-1784

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

P31

scholarly article

P356

10.4103/0366-6999.211539

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

P407

English

P433

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

P478

130

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

P577

2017-08-01T00:00:00Z

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

P698

28748849

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

P932

5547828

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

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

about

P2860

P2860

A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P932