Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

about

WDR45 mutations in three male patients with West syndrome.Clinical Heterogeneity of Atypical Pantothenate Kinase-Associated Neurodegeneration in Koreans.Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.

P2860

Q31065497-D87922B3-39A2-4B69-81BD-E67AC62B3F1E Q36526295-588A980F-6272-4D63-8A1F-D2F85638E625 Q49329445-A9BB2A9F-9F92-4A55-AAC2-45916BD9D67C

P2860

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

Item

http://www.wikidata.org/entity/Q35866140

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@ast

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@en

type

Item

label

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@ast

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@en

prefLabel

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@ast

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@en

P1476

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

@en

P2093

Jang Su Kim

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

Seung Hwan Lee

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

Sook Won Ryu

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

P2860

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Network organization of the human autophagy system

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

Neuroimaging features of neurodegeneration with brain iron accumulation.

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

P304

289-291

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

P31

scholarly article

P356

10.3988/JCN.2015.11.3.289

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

P433

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

P478

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

P577

2015-05-28T00:00:00Z

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

P5875

277407997

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

P698

26022463

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

P921

beta-propeller protein-associated neurodegeneration

P932

4507387

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

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

about

P2860

P2860

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P5875

P698

P921

P932