Whole-Exome Sequencing in Familial Parkinson Disease. - Wikidata - awgldk - TriplyDB

Whole-Exome Sequencing in Familial Parkinson Disease.

Whole-Exome Sequencing in Familial Parkinson Disease.

http://www.wikidata.org/entity/Q37098159

about

GeMSTONE: orchestrated prioritization of human germline mutations in the cloud Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.Functional genomics of candidate genes derived from genome-wide association studies for five common neurological diseases.Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease.Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study.Cutaneous malignant melanoma and Parkinson disease: Common pathways?Progress toward an integrated understanding of Parkinson's disease.Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.Tau filaments from multiple cases of sporadic and inherited Alzheimer's disease adopt a common fold Structures of filaments from Pick's disease reveal a novel tau protein fold

P2860

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P2860

Whole-Exome Sequencing in Familial Parkinson Disease.

http://www.wikidata.org/entity/Q37098159

description

2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

@zh-my

2015年学术文章

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2015年學術文章

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2015年學術文章

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2015年學術文章

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name

Whole-Exome Sequencing in Familial Parkinson Disease.

@en

Whole-Exome Sequencing in Familial Parkinson Disease.

@nl

type

label

Whole-Exome Sequencing in Familial Parkinson Disease.

@en

Whole-Exome Sequencing in Familial Parkinson Disease.

@nl

prefLabel

Whole-Exome Sequencing in Familial Parkinson Disease.

@en

Whole-Exome Sequencing in Familial Parkinson Disease.

@nl

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Whole-Exome Sequencing in Familial Parkinson Disease.

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Dongbing Lai

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Elizabeth Pugh

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Hai Lin

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Hua Ling

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James R Lupski

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Janice L Farlow

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Joshua M Shulman

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Kevin Bowling

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Kimberly Doheny

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Kurt Hetrick

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P2860

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

Gene ontology: tool for the unification of biology

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

Expression, synaptic localization, and developmental regulation of Ack1/Pyk1, a cytoplasmic tyrosine kinase highly expressed in the developing and adult brain

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scholarly article

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10.1001/JAMANEUROL.2015.3266

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1

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73

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Eric Boerwinkle

Janson J. White

Joseph Jankovic

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2015-11-23T00:00:00Z

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284545805

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Parkinson's disease

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