The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease - Wikidata - thesis-toulmin - TriplyDB

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

http://www.wikidata.org/entity/Q30665368

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C9orf72's Interaction with Rab GTPases-Modulation of Membrane Traffic and Autophagy Identification of TMEM230 mutations in familial Parkinson's disease Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases Phos-tag analysis of Rab10 phosphorylation by LRRK2: a powerful assay for assessing kinase function and inhibitors.RAB39B gene mutations are not linked to familial Parkinson's disease in China Increased Rab35 expression is a potential biomarker and implicated in the pathogenesis of Parkinson's disease.Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease.Rabs, Membrane Dynamics, and Parkinson's Disease.Critical importance of RAB proteins for synaptic function.Coordination of AMPA receptor trafficking by Rab GTPases.New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.The discovery of LRRK2 p.R1441S, a novel mutation for Parkinson's disease, adds to the complexity of a mutational hotspot A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease Traffic jams and the complex role of α-Synuclein aggregation in Parkinson disease.Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.Mitochondrial function and autophagy: integrating proteotoxic, redox, and metabolic stress in Parkinson's disease.Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.Dysregulated phosphorylation of Rab GTPases by LRRK2 induces neurodegeneration.RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.Rab GTPases and Membrane Trafficking in Neurodegeneration.

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

http://www.wikidata.org/entity/Q30665368

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2015 nî lūn-bûn

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2015 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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2015 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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type

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease

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Alberto J Espay

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Ali Samii

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Brenna A Cholerton

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Chun-Hyung Kim

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Cyrus P Zabetian

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David R Shprecher

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David S Hanna

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Donald S Higgins

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Dora Yearout

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Erica Martinez

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P2860

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

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

Protein structure prediction on the Web: a case study using the Phyre server

DNAJC13 mutations in Parkinson disease

Exome sequencing: a transformative technology

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

A general framework for estimating the relative pathogenicity of human genetic variants

Role of Rab GTPases in membrane traffic and cell physiology

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.

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James B Leverenz

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