Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations
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Copy number variation in familial Parkinson disease.A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approachIncreasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene.Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's DiseaseGenome-wide approaches to systematically identify substrates of the ubiquitin-proteasome pathwayPhase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.The genetics of Parkinson disease.The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD studyPredictors 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.Clinically relevant copy number variations detected in cerebral palsySplicing: is there an alternative contribution to Parkinson's disease?Analysis of PRKN Variants and Clinical Features in Polish Patients with Parkinson's DiseaseGenetic analysis of PARK2 and PINK1 genes in Brazilian patients with early-onset Parkinson's diseaseCognitive and motor function in long-duration PARKIN-associated Parkinson disease.Development of Parkinson's disease biomarkers.The neuropathology of genetic Parkinson's disease.Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions/duplications in parkin gene.Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.Parkinson's disease with Lewy bodies associated with a heterozygous PARKIN dosage mutation.Genetic assessment of familial and early-onset Parkinson's disease in a Greek population.High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.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.Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN.Heterozygote carriers for CNVs inPARK2are at increased risk of Parkinson's diseaseParkinson's disease-linked Parkin mutations impair glutamatergic signaling in hippocampal neurons
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Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 2009
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Parkin dosage mutations have g ...... than simple sequence mutations
@en
Parkin dosage mutations have g ...... han simple sequence mutations.
@nl
type
label
Parkin dosage mutations have g ...... than simple sequence mutations
@en
Parkin dosage mutations have g ...... han simple sequence mutations.
@nl
prefLabel
Parkin dosage mutations have g ...... than simple sequence mutations
@en
Parkin dosage mutations have g ...... han simple sequence mutations.
@nl
P2093
P2860
P1433
P1476
Parkin dosage mutations have g ...... than simple sequence mutations
@en
P2093
C A Halter
D K Kissell
K S Marder
M W Pauciulo
Parkinson Study Group-PROGENI Investigators
R F Pfeiffer
W C Nichols
P2860
P304
P356
10.1212/WNL.0B013E3181AF7A33
P407
P577
2009-07-01T00:00:00Z