Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateUbiquitin Ser65 phosphorylation affects ubiquitin structure, chain assembly and hydrolysisThe role of free radicals in the aging brain and Parkinson's Disease: convergence and parallelismStructure of the human Parkin ligase domain in an autoinhibited stateGenetic diagnosis of two dopa-responsive dystonia families by exome sequencingGenomewide association study for onset age in Parkinson disease.Genomewide linkage study of modifiers of LRRK2-related Parkinson's disease.Copy number variation in familial Parkinson disease.Genomewide association study for susceptibility genes contributing to familial Parkinson diseaseReplication of association between ELAVL4 and Parkinson disease: the GenePD study.Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD StudyA comprehensive analysis of deletions, multiplications, and copy number variations in PARK2Bacterial artificial chromosome transgenic mice expressing a truncated mutant parkin exhibit age-dependent hypokinetic motor deficits, dopaminergic neuron degeneration, and accumulation of proteinase K-resistant alpha-synuclein.Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutationsAnalysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's DiseaseIdentification and characterization of a novel endogenous murine parkin mutation.Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.The genetics of Parkinson disease.Deletion of a single allele of the Pex11β gene is sufficient to cause oxidative stress, delayed differentiation and neuronal death in mouse brainHigh-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2Oxidative stress and microglial cells in Parkinson's diseasePredictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.Greater improvement in LRRK2 G2019S patients undergoing Subthalamic Nucleus Deep Brain Stimulation compared to non-mutation carriers.Neuroinflammation is a key player in Parkinson's disease and a prime target for therapy.Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and controlMutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.Phenotypic and molecular analyses of primary lateral sclerosis.Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population.Genetics of Parkinson disease.Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutationsGenetic insights into sporadic Parkinson's disease pathogenesis.Pharmacological therapy in Parkinson's disease: focus on neuroprotection.Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.Twenty years since the discovery of the parkin gene.Evaluation of PARKIN gene variants in West Bengal Parkinson's disease patients.Phenotypic Discordance in Siblings with Identical Compound Heterozygous PARK2 MutationsGenetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population.
P2860
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P2860
Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Influence of heterozygosity fo ...... son disease: the GenePD study.
@en
Influence of heterozygosity fo ...... son disease: the GenePD study.
@nl
type
label
Influence of heterozygosity fo ...... son disease: the GenePD study.
@en
Influence of heterozygosity fo ...... son disease: the GenePD study.
@nl
prefLabel
Influence of heterozygosity fo ...... son disease: the GenePD study.
@en
Influence of heterozygosity fo ...... son disease: the GenePD study.
@nl
P2093
P50
P1433
P1476
Influence of heterozygosity fo ...... son disease: the GenePD study.
@en
P2093
Abbas Parsian
Brad A Racette
Carlos Singer
G Frederick Wooten
Garth Nicholson
Holly A Shill
Jemma B Wilk
John H Growdon
Kenneth B Baker
P304
P356
10.1001/ARCHNEUR.63.6.826
P50
P577
2006-06-01T00:00:00Z