(Q37968072)

26 August 2017

title

Autosomal recessive parkinsonism (English)

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26 August 2017

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1

Vincenzo Bonifati

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26 August 2017

publication date

1 January 2012

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Parkinsonism and Related Disorders

26 August 2017

published in

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26 August 2017

volume

18 Suppl 1

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26 August 2017

page(s)

S4-6

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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

26 August 2017

cites work

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Genetics of parkinsonism

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

PINK1-linked parkinsonism is associated with Lewy body pathology

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

How much phenotypic variation can be attributed to parkin genotype?

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

PINK1 is selectively stabilized on impaired mitochondria to activate Parkin

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Juvenile dystonia-parkinsonism and dementia caused by a novel ATP13A2 frameshift mutation

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

A new perspective in Parkinson's disease, chaperone-mediated autophagy

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Glucocerebrosidase mutations in diffuse Lewy body disease

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15)

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https://api.crossref.org/works/10.1016%2FS1353-8020%2811%2970004-9

7 January 2021

10.1016/S1353-8020(11)70004-9

Identifiers

DOI

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26 August 2017

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