Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control
about
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateGenetics of Parkinson's disease - a clinical perspectiveAnalysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's DiseasePhase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.Parkin (PARK 2) mutations are rare in Czech patients with early-onset Parkinson's diseaseGenotator: a disease-agnostic tool for genetic annotation of disease.A meta-analysis of the relationship of the Parkin p.Val380Leu polymorphism to Parkinson's disease.The genetics of Parkinson disease.Parkin is a lipid-responsive regulator of fat uptake in mice and mutant human cells.Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and DrosophilaGenetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's diseaseMutational analysis of parkin and PINK1 in multiple system atrophy.Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.Advances in the genetics of Parkinson disease.SUMO-regulated mitochondrial function in Parkinson's disease.The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.Rescue of mitochondrial function in parkin-mutant fibroblasts using drug loaded PMPC-PDPA polymersomes and tubular polymersomesOlfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients.Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population.Genetic mutations in early-onset Parkinson's disease Mexican patients: molecular testing implications.Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.Polyubiquitination of apurinic/apyrimidinic endonuclease 1 by Parkin.PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.Lack of association between p.Ser167Asn variant of Parkin and Parkinson's disease: a meta-analysis of 15 studies involving 2,280 cases and 2,459 controls.Minimotifs dysfunction is pervasive in neurodegenerative disordersHeterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's disease
P2860
Q22252904-678ECFEF-C3A4-49C8-93E2-13A4D32E3233Q27022109-BAF83156-3D45-4E53-B6A1-39F3E3EDD92EQ33911698-92430459-58E1-4D99-BBCE-D4FB62424337Q34181728-121ED6B7-2D94-4C5F-AAD9-167733366982Q34199600-13FD52A1-CBFF-45D6-8D13-F2FBEBEAB068Q34215600-190ECC00-2481-4190-BC5E-5EFED5CCB84FQ34344661-ED251062-5F77-4381-95B1-44D646339DCAQ34597756-F0B19226-7D04-4054-A7DE-E9FDB15982DEQ34604083-B3234953-05E3-4D33-960C-0D96E6ED493EQ35208410-045CF507-A58A-488B-99E8-CE79C38979D8Q35897974-2BA01889-408A-42AD-A8CA-D889BF9B0E6FQ35898027-06C7E5B4-CE49-4796-9E87-CDD1A21CEBC1Q36636038-0FD681CF-FC72-46CA-AD59-391C60515CD6Q37176618-52293D23-B4AD-47DE-B55E-DDDE3FEAAF96Q37602290-2C675F76-DF1B-4FA0-948B-D864E093FB1EQ38041529-AF70336A-6324-45FC-ADAB-7BF55CD4A27BQ38115298-E16F503D-1820-4071-A36F-98F378339363Q38121773-0E9C1346-C419-434A-9A41-CC92EEE71088Q38757045-A32BD898-8E29-4D53-9111-65A5CF44001CQ38769351-75D6BB1F-74CE-4ED9-B0ED-8499E193BDAEQ39230378-90EB0149-C4D9-4204-BFD4-4E52B4BDA613Q41007115-A5F8FAD3-6213-43CB-BE13-04CF5EB6497CQ41082517-2C551D3F-8D7C-4572-80B3-0C11FB86E1AFQ44358768-F41F1F39-E8CB-4DBF-B8DF-09C52C47CB84Q44698182-F78B7786-64FB-472C-A6C3-2293808FCB5AQ47745313-3668CD08-3DC0-44D6-BEBD-686976469FB4Q47902700-EA7D0824-C8A3-4AF9-A245-18434EDE6F1AQ49425463-52BE8103-B0E9-46FB-95B2-D91DAB2498B6Q50471729-268F5DB0-B06D-45D2-81AD-3A020A8E3A7FQ53091543-92F320F5-C121-4695-8C4B-05225936D6AFQ57174649-218476CB-C91E-4E5B-8524-A40015EE0612Q57309405-DD51F84B-6781-4252-A78B-3CBB60E2B91E
P2860
Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
2009年论文
@zh
2009年论文
@zh-cn
name
Parkin and PINK1 mutations in ...... ly available cases and control
@ast
Parkin and PINK1 mutations in ...... ly available cases and control
@en
type
label
Parkin and PINK1 mutations in ...... ly available cases and control
@ast
Parkin and PINK1 mutations in ...... ly available cases and control
@en
prefLabel
Parkin and PINK1 mutations in ...... ly available cases and control
@ast
Parkin and PINK1 mutations in ...... ly available cases and control
@en
P2093
P2860
P356
P1476
Parkin and PINK1 mutations in ...... ly available cases and control
@en
P2093
A B Singleton
J Simon-Sanchez
P2860
P304
P356
10.1136/JMG.2008.063917
P4011
a44499a512f1315c7a15eae892eee29a78d1d764
P407
P577
2009-04-06T00:00:00Z