Varaico: Literature-Extracted Genetic Variants

Gene:PRKN
Variant:p.D464N
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PRKN

NM_004562.3:p.D464N

Associated Papers

Nigrostriatal dysfunction in homozygous and heterozygous parkin gene carriers: an 18F-dopa PET progression study.

Pavese N et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

Early-onset Parkinson's disease in a Chinese population: 99mTc-TRODAT-1 SPECT, Parkin gene analysis and clinical study.

Shyu WC et al.

Parkinsonism & Related Disorders, 2005

Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation.

Khan NL et al.

Neurology, 2005

Does parkin play a role in the peripheral nervous system? A family report.

Abbruzzese G et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2004

Striatal and cortical pre- and postsynaptic dopaminergic dysfunction in sporadic parkin-linked parkinsonism.

Scherfler C et al.

Brain : a Journal of Neurology, 2004

Parkin genetics: one model for Parkinson's disease.

Mata IF et al.

Human Molecular Genetics, 2004

Parkin disease: a phenotypic study of a large case series.

Khan NL et al.

Brain : a Journal of Neurology, 2003

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.

Oliveira SA et al.

Annals of Neurology, 2003

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations.

Hedrich K et al.

Neurology, 2002

Association between early-onset Parkinson's disease and mutations in the parkin gene.

Lücking CB et al.

The New England Journal of Medicine, 2000

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