Distribution, type, and origin of Parkin mutations: review and case studies. - Wikidata - awgldk - TriplyDB

Distribution, type, and origin of Parkin mutations: review and case studies.

Distribution, type, and origin of Parkin mutations: review and case studies.

http://www.wikidata.org/entity/Q35897345

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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update Autoregulation of Parkin activity through its ubiquitin-like domain Mitochondrial dysfunction in Parkinson's disease The role of free radicals in the aging brain and Parkinson's Disease: convergence and parallelism Genetics of Parkinson's disease - a clinical perspective Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance Major influence of repetitive elements on disease-associated copy number variants (CNVs)Evidence for a common biological pathway linking three Parkinson's disease-causing genes: parkin, PINK1 and DJ-1 Hotspots of large rare deletions in the human genome Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method.Analysis of Dosage Mutation in PARK2 among Korean Patients with Early-Onset or Familial Parkinson's Disease Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines Identification and characterization of a novel endogenous murine parkin mutation.Neurodegenerative models in Drosophila: polyglutamine disorders, Parkinson disease, and amyotrophic lateral sclerosis.Important role of indels in somatic mutations of human cancer genes.Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease.COMBINING ISOTONIC REGRESSION AND EM ALGORITHM TO PREDICT GENETIC RISK UNDER MONOTONICITY CONSTRAINT The genetic background of Parkinson's disease: current progress and future prospects.Biochemical analysis of Parkinson's disease-causing variants of Parkin, an E3 ubiquitin-protein ligase with monoubiquitylation capacity.Olfaction in Parkin heterozygotes and compound heterozygotes: the CORE-PD study.The genetics of Parkinson disease.Profiling of Parkin-binding partners using tandem affinity purification.Parkin is a lipid-responsive regulator of fat uptake in mice and mutant human cells.Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.Genomic instability in the PARK2 locus is associated with Parkinson's disease.Recessive Parkinson's disease.Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.Genetics of Parkinson disease.Progress in the pathogenesis and genetics of Parkinson's disease.Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations Molecular pathology of Lewy body diseases.Molecular pathogenesis of Parkinson disease: insights from genetic studies.Association studies of sporadic Parkinson's disease in the genomic era.Nix restores mitophagy and mitochondrial function to protect against PINK1/Parkin-related Parkinson's disease.Copy number variation in Parkinson's disease.

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P2860

Distribution, type, and origin of Parkin mutations: review and case studies.

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Paralysis agitans of early onset with marked diurnal fluctuation of symptoms.

Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of Parkin gene.

Parkin mutations in a patient with hemiparkinsonism-hemiatrophy: a clinical-genetic and PET study.

New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.

Homozygous exon 4 deletion in parkin gene in a Korean family with autosomal recessive early onset parkinsonism

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

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