Novel parkin mutations detected in patients with early-onset Parkinson's disease.
about
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateEffective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.Increasing the Coding Potential of Genomes Through Alternative Splicing: The Case of PARK2 Gene.Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.Genome-wide screen for modifiers of Parkinson's disease genes in Drosophila.Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.A Peruvian family with a novel PARK2 mutation: Clinical and pathological characteristicsSplicing: is there an alternative contribution to Parkinson's disease?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.Roles of LIM kinases in central nervous system function and dysfunction.The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.Twenty years since the discovery of the parkin gene.High frequency of Parkin exon rearrangements in Mexican-mestizo patients with early-onset Parkinson's disease.PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family.Myopathy causing camptocormia in idiopathic Parkinson's disease: a multidisciplinary approach.PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations.
P2860
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P2860
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@ast
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@en
type
label
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@ast
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@en
prefLabel
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@ast
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@en
P2093
P50
P356
P1433
P1476
Novel parkin mutations detected in patients with early-onset Parkinson's disease.
@en
P2093
Aida M Bertoli-Avella
Alessio Dalla Libera
Antonino De Leo
Antonio De Gaetano
Ben A Oostra
Egberto Barbosa
Emilia Martignoni
Emiliana Fincati
Giorgio Trianni
P2860
P304
P356
10.1002/MDS.20343
P407
P50
P577
2005-04-01T00:00:00Z