ATP13A2 variants in early-onset Parkinson's disease patients and controls. - Wikidata - awgldk - TriplyDB

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

http://www.wikidata.org/entity/Q44289614

about

The genetics and neuropathology of Parkinson's disease ATP13A2 and Alpha-synuclein: a Metal Taste in Autophagy PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.Regulation of intracellular manganese homeostasis by Kufor-Rakeb syndrome-associated ATP13A2 protein Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability ATP13A2/PARK9 Deficiency Neither Cause Lysosomal Impairment Nor Alter α-Synuclein Metabolism in SH-SY5Y Cells.Analysis of Thr12Met and Ala1144Thr mutations of the ATP13A2 gene in Parkinson's disease patients in Xinjiang Uygur and Han ethnic groups.Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts."Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide.Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.Lack of association between the ATP13A2 A746T variant and Parkinson's disease susceptibility in Han Chinese: a meta-analysis.The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms.Disorders of lysosomal acidification-The emerging role of v-ATPase in aging and neurodegenerative disease.Autophagy in neurodegenerative diseases: pathogenesis and therapy.ATP13A2 variability in Taiwanese Parkinson's disease.The role of the Ala746Thr variant in the ATP13A2 gene among Chinese patients with Parkinson's disease.Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9).Genetic analysis of the ATP1B4 gene in Chinese Han patients with Parkinson's disease.Genetic analysis of ATP13A2, PLA2G6 and FBXO7 in a cohort of Chinese patients with early-onset Parkinson's disease

P2860

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P2860

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

http://www.wikidata.org/entity/Q44289614

description

2009 nî lūn-bûn

@nan

2009年の論文

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2009年学术文章

@wuu

2009年学术文章

@zh-cn

2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

2009年學術文章

@zh

2009年學術文章

@zh-hant

name

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@en

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@nl

type

label

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@en

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@nl

prefLabel

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@en

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@nl

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P1433

Movement Disorders

P1476

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

@en

P2093

Ana Djarmati

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

Ferdinand Binkofski

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

Heike Pawlack

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Johann Hagenah

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Katja Lohmann

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Norbert Brüggemann

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Peter P Pramstaller

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Susen Winkler

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Vera Tadić

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

Vladimir S Kostić

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P2860

Relationship of substantia nigra echogenicity and motor function in elderly subjects.

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2104-2111

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scholarly article

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10.1002/MDS.22728

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14

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24

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Christine Klein

Hartwig R. Siebner

Alfredo Ramirez

Maria I. Behrens

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2009-10-01T00:00:00Z

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26765453

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19705361

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Parkinson's disease