PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

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New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.PTRHD1 and possibly ADORA1 mutations contribute to Parkinsonism with intellectual disability.Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.

P2860

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P2860

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

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http://www.wikidata.org/entity/Q48474330

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

PTRHD1 (C2orf79) mutations lea ...... l disability and parkinsonism.

@en

PTRHD1

@nl

type

Item

label

PTRHD1 (C2orf79) mutations lea ...... l disability and parkinsonism.

@en

PTRHD1

@nl

prefLabel

PTRHD1 (C2orf79) mutations lea ...... l disability and parkinsonism.

@en

PTRHD1

@nl

P1476

PTRHD1 (C2orf79) mutations lea ...... l disability and parkinsonism.

@en

P2093

Abbas Tafakhori

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

Coro Paisán-Ruiz

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

Gholam Ali Shahidi

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

Hamidreza Khodadadi

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

Hossein Darvish

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

Luis J Azcona

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

Mir Davood Omrani

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

Shaghayegh Taghavi

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

Vajiheh Aghamollaii

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

P2860

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism

Parkinson's disease: clinical features and diagnosis

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly

UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome

Yeast Pth2 is a UBL domain-binding protein that participates in the ubiquitin-proteasome pathway.

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Mutation in ADORA1 identified as likely cause of early-onset parkinsonism and cognitive dysfunction.

P304

287-291

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P31

scholarly article

P356

10.1002/MDS.26824

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P407

English

P433

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

P478

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

P50

Javad Jamshidi

Masoud Garshasbi

P577

2016-10-18T00:00:00Z

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P698

27753167

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P932

5318269

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PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

about

P2860

P2860

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P932