PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. - Wikidata - wikimedia - TriplyDB

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

http://www.wikidata.org/entity/Q45373112

about

Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update Syndromic parkinsonism and dementia associated with OPA1 missense mutations Gene-environment interactions: key to unraveling the mystery of Parkinson's disease Parkinson's Disease in Saudi Patients: A Genetic Study Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control The genetic landscape of high-risk neuroblastoma.Genetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's disease Mitochondrial kinases in Parkinson's disease: converging insights from neurotoxin and genetic models Tickled PINK1: mitochondrial homeostasis and autophagy in recessive Parkinsonism.Genetic insights into sporadic Parkinson's disease pathogenesis.Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease.Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity.Early Onset Parkinson's Disease in a family of Moroccan origin caused by a p.A217D mutation in PINK1: a case report Double hit mouse model of Parkinson's disease.Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.PINK1-linked parkinsonism is associated with Lewy body pathology.Mutations and mechanism: how PINK1 may contribute to risk of sporadic Parkinson's disease.PINK1: one protein, multiple neuroprotective functions

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P2860

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

http://www.wikidata.org/entity/Q45373112

description

2008 nî lūn-bûn

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2008年の論文

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2008年学术文章

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2008年学术文章

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2008年学术文章

@zh-cn

2008年学术文章

@zh-hans

2008年学术文章

@zh-my

2008年学术文章

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2008年學術文章

@yue

2008年學術文章

@zh-hant

name

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

@en

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

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type

label

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

@en

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

@nl

prefLabel

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

@en

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

@nl

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PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

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Alessandro Ferraris

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Anna Zecchinelli

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Antonio E Elia

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Cesa Scaglione

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Francesca Ferrari

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Francesco Soleti

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Italian PD Study Group

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Livia Brusa

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Maria Concetta Altavista

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Paolo Martinelli

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565

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scholarly article

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10.1002/HUMU.20719

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4

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29

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Bruno Dallapiccola

Massimo Zeviani

Enza Maria Valente

Anna Rita Bentivoglio

Angelo Antonini

Barbara Garavaglia

Emanuele Cassetta

Alberto Albanese

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2008-04-01T00:00:00Z

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5521154

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18330912

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