(Q48581847)

13 February 2018

title

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. (English)

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13 February 2018

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Vincenzo Bonifati

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object named as

Vincenzo Bonifati

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13 February 2018

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Ben A Oostra

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13 February 2018

author name string

Christan F Rohé

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Pasquale Montagna

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Guido Breedveld

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publication date

1 September 2004

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13 February 2018

published in

Annals of Neurology

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13 February 2018

volume

56

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page(s)

427-431

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issue

3

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Molecular Pathways of Neurodegeneration in Parkinson's Disease

cites work

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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

21 January 2018

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

21 January 2018

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The role of pathogenic DJ-1 mutations in Parkinson's disease.

21 January 2018

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Hereditary early-onset Parkinson's disease caused by mutations in PINK1

21 January 2018

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Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

21 January 2018

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The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes

21 January 2018

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Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

21 January 2018

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Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families

21 January 2018

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How much phenotypic variation can be attributed to parkin genotype?

21 January 2018

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Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease

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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21 January 2018

Identifiers

DOI

10.1002/ANA.20247

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13 February 2018

PubMed ID

15349871

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13 February 2018