The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. - Wikidata - awgldk - TriplyDB

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

http://www.wikidata.org/entity/Q30440660

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Parkinson's disease: from monogenic forms to genetic susceptibility factors Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update Membrane localization of LRRK2 is associated with increased formation of the highly active LRRK2 dimer and changes in its phosphorylation The genetics and neuropathology of Parkinson's disease Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications Genetics of Parkinson's disease - a clinical perspective LRRK2 inhibitors and their potential in the treatment of Parkinson's disease: current perspectives Genomewide association study for onset age in Parkinson disease.Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.Cybrid models of Parkinson's disease show variable mitochondrial biogenesis and genotype-respiration relationships Efficient Estimation of Nonparametric Genetic Risk Function with Censored Data.LRRK2 in Parkinson's disease - drawing the curtain of penetrance: a commentary.Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.Impaired sense of smell in a Drosophila Parkinson's model.Gender differences in the risk of familial parkinsonism: beyond LRRK2?Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers Olfactory dysfunction in LRRK2 G2019S mutation carriers Selective expression of Parkinson's disease-related Leucine-rich repeat kinase 2 G2019S missense mutation in midbrain dopaminergic neurons impairs dopamine release and dopaminergic gene expression.Novel recruitment strategy to enrich for LRRK2 mutation carriers The genetics of Parkinson's disease: progress and therapeutic implications Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Leucine-rich repeat kinase 2 mutations and Parkinson's disease: three questions.Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.Recent advances in Parkinson’s disease genetics.The role of innate and adaptive immunity in Parkinson's disease.LRRK2, a puzzling protein: insights into Parkinson's disease pathogenesis Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.Clinical Features of LRRK2 Carriers with Parkinson's Disease.A vision of the future for BMC Medicine: serving science, medicine and authors.Trichloroethylene and Parkinson's disease: dissolving the puzzle.Prospective clinical and DaT-SPECT imaging in premotor LRRK2 G2019S-associated Parkinson disease.High frequency and reduced penetrance of LRRK2 G2019S mutation among Parkinson's disease patients in Cantabria (Spain).Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.Familial knockin mutation of LRRK2 causes lysosomal dysfunction and accumulation of endogenous insoluble α-synuclein in neurons.Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression.Clinical Heterogeneity Among Variants in Parkinson's Disease: A Meta-Analysis A voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers

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P2860

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

http://www.wikidata.org/entity/Q30440660

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2008 nî lūn-bûn

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2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2008 թվականի նոյեմբերին հրատարակված գիտական հոդված

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2008年の論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年論文

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2008年论文

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The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.

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The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.

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The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.

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The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.

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Alastair Corbett

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Anette T Moller

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Anwar Ahmed

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Brad A Racette

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Edward Drasby

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Franca Cambi

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G Frederick Wooten

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Garth Nicholson

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P2860

Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

Accuracy of family history data on Parkinson's disease.

Incidence and distribution of parkinsonism in Olmsted County, Minnesota, 1976-1990.

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?

Epidemiology of neurodegeneration.

Pathogenic mutations in Parkinson disease.

G2019S LRRK2 mutation in French and North African families with Parkinson's disease.

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10.1186/1741-7015-6-32

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1

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6

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James F. Gusella

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Richard H Myers

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Anita L DeStefano

Richard H. Roxburgh

Jeanne C Latourelle

Audrey E Hendricks

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2008-11-05T00:00:00Z

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1050130060

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18986508

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Parkinson's disease

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2596771

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