Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
about
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateDeconvoluting the complexity of autophagy and Parkinson's disease for potential therapeutic purposeGenetics of Parkinson's diseaseGenetics of Parkinson's disease - a clinical perspectiveGenetics in Parkinson disease: Mendelian versus non-Mendelian inheritanceSynaptopathies: synaptic dysfunction in neurological disorders - A review from students to studentsIn Silico Analysis of SNPs in PARK2 and PINK1 Genes That Potentially Cause Autosomal Recessive Parkinson Disease.Proteomic and functional analysis of NCS-1 binding proteins reveals novel signaling pathways required for inner ear development in zebrafish.Antioxidants protect PINK1-dependent dopaminergic neurons in DrosophilaCopy number variability in Parkinson's disease: assembling the puzzle through a systems biology approachSignificance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonismThe neurobiological basis of cognitive impairment in Parkinson's disease.Mutations in the ATP13A2 gene and Parkinsonism: a preliminary review.The genetics of Parkinson disease.Diagnosis and treatment of Parkinson disease: molecules to medicinePINK1 mutation heterozygosity and the risk of Parkinson's disease.Expanding insights of mitochondrial dysfunction in Parkinson's disease.PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy.Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria?Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and DrosophilaGenetics of Parkinson disease.Progress in the pathogenesis and genetics of Parkinson's disease.The role of PTEN-induced kinase 1 in mitochondrial dysfunction and dynamics.PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology?Genetic mutations and mitochondrial toxins shed new light on the pathogenesis of Parkinson's disease.Genetic basis of Parkinson's disease: inheritance, penetrance, and expression.The Effects of Variants in the Parkin, PINK1, and DJ-1 Genes along with Evidence for their Pathogenicity.Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions.MicroRNAs and Target Genes As Biomarkers for the Diagnosis of Early Onset of Parkinson Disease.Protein Localization at Mitochondria-ER Contact Sites in Basal and Stress Conditions.Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.PINK1-linked parkinsonism is associated with Lewy body pathology.PINK1: one protein, multiple neuroprotective functionsHomozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
P2860
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P2860
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունիսին 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
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@ast
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@en
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@nl
type
label
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@ast
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@en
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@nl
prefLabel
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@ast
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@en
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@nl
P2093
P1433
P1476
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism.
@en
P2093
H Miyajima
H Tomiyama
M Kitaguchi
S Kawaguchi
P304
P356
10.1212/01.WNL.0000164009.36740.4E
P407
P577
2005-06-01T00:00:00Z