PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism (Q50279934)

28 February 2018

title

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism (English)

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28 February 2018

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Christine Klein

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28 February 2018

Olaf Riess

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28 February 2018

author name string

Ana Djarmati

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28 February 2018

Katja Hedrich

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28 February 2018

Nora Schäfer

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28 February 2018

Cesa Scaglione

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28 February 2018

Roberta Marchese

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28 February 2018

Norman Kock

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28 February 2018

Birgitt Schüle

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28 February 2018

Anja Hiller

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28 February 2018

Thora Lohnau

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28 February 2018

Susen Winkler

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28 February 2018

Karin Wiegers

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28 February 2018

Robert Hering

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28 February 2018

Peter Bauer

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28 February 2018

Giovanni Abbruzzese

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28 February 2018

Paolo Martinelli

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28 February 2018

Peter P Pramstaller

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28 February 2018

publication date

1 September 2005

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28 February 2018

European Journal of Human Genetics

published in

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volume

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issue

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28 February 2018

page(s)

1086-1093

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28 February 2018

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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Mitochondria and dopamine: new insights into recessive parkinsonism

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

21 January 2018

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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

21 January 2018

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Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients

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Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

21 January 2018

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PINK1 mutations are associated with sporadic early-onset parkinsonism

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Novel PINK1 mutations in early-onset parkinsonism

21 January 2018

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Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

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PINK1 (PARK6) associated Parkinson disease in Ireland

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Parkin mutations are rare in patients with young-onset parkinsonism in a US population.

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Frequency of parkin mutations in late-onset Parkinson's disease.

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Parkinsonism: onset, progression, and mortality

21 January 2018

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21 January 2018

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 January 2018

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RING finger 1 mutations in Parkin produce altered localization of the protein

21 January 2018

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Complex relationship between Parkin mutations and Parkinson disease

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

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Brain parenchyma sonography detects preclinical parkinsonism.

21 January 2018

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Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study

21 January 2018

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Parkin variants in North American Parkinson's disease: cases and controls.

21 January 2018

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The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism

21 January 2018

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Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

21 January 2018

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The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

21 January 2018

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7 January 2021

Molecular genetic analysis of a novelParkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in theParkin gene in affected individuals

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7 January 2021

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

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7 January 2021

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

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7 January 2021

A high-resolution recombination map of the human genome

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201455

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28 February 2018

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28 February 2018