The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
about
Parkinson's disease: from monogenic forms to genetic susceptibility factorsGenetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateMembrane localization of LRRK2 is associated with increased formation of the highly active LRRK2 dimer and changes in its phosphorylationThe genetics and neuropathology of Parkinson's diseaseHeterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implicationsGenetics of Parkinson's disease - a clinical perspectiveLRRK2 inhibitors and their potential in the treatment of Parkinson's disease: current perspectivesGenomewide 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 relationshipsEfficient 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 carriersOlfactory dysfunction in LRRK2 G2019S mutation carriersSelective 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 carriersThe genetics of Parkinson's disease: progress and therapeutic implicationsWhere 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 pathogenesisLeucine-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-AnalysisA voxel-based morphometry and diffusion tensor imaging analysis of asymptomatic Parkinson's disease-related G2019S LRRK2 mutation carriers
P2860
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P2860
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.
description
2008 nî lūn-bûn
@nan
2008 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@ast
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@en
type
label
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@ast
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@en
altLabel
The Gly2019Ser mutation in LRR ...... on's disease: the GenePD study
@en
prefLabel
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@ast
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@en
P2093
P2860
P50
P356
P1433
P1476
The Gly2019Ser mutation in LRR ...... n's disease: the GenePD study.
@en
P2093
Alastair Corbett
Anette T Moller
Anwar Ahmed
Barry Snow
Brad A Racette
Carlos Singer
Edward Drasby
Franca Cambi
G Frederick Wooten
Garth Nicholson
P2860
P2888
P356
10.1186/1741-7015-6-32
P407
P50
P577
2008-11-05T00:00:00Z
P5875
P6179
1050130060