Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.
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Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation updateMutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stabilityBiochemical aspects of the neuroprotective mechanism of PTEN-induced kinase-1 (PINK1)Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration.Early hypersynchrony in juvenile PINK1(-)/(-) motor cortex is rescued by antidromic stimulationGenetic testing in Parkinson's disease.Pink1 kinase and its membrane potential (Deltaψ)-dependent cleavage product both localize to outer mitochondrial membrane by unique targeting mode.Recessive Parkinson's disease.Parkinson's disease: the genetics of a heterogeneous disorder.The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's diseaseAbnormal Development of Glutamatergic Synapses Afferent to Dopaminergic Neurons of the Pink1(-/-) Mouse Model of Parkinson's Disease.Analysis of mitochondrial structure and function in the Drosophila larval musculature.Ultrasound-based motion analysis demonstrates bilateral arm hypokinesia during gait in heterozygous PINK1 mutation carriers.Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.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
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.
description
2001 nî lūn-bûn
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2001年の論文
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2001年学术文章
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2001年学术文章
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2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
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name
Phenotypic characterisation of ...... ee unrelated Italian families.
@en
Phenotypic characterisation of ...... ee unrelated Italian families.
@nl
type
label
Phenotypic characterisation of ...... ee unrelated Italian families.
@en
Phenotypic characterisation of ...... ee unrelated Italian families.
@nl
prefLabel
Phenotypic characterisation of ...... ee unrelated Italian families.
@en
Phenotypic characterisation of ...... ee unrelated Italian families.
@nl
P2093
P2860
P50
P356
P1433
P1476
Phenotypic characterisation of ...... ee unrelated Italian families.
@en
P2093
P2860
P304
P356
10.1002/MDS.10034
P407
P577
2001-11-01T00:00:00Z