A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (Q36370223)

13 August 2017

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants (English)

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13 August 2017

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John P A Ioannidis

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Alexis Brice

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Christine Van Broeckhoven

Alexis Brice

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54

Christine Van Broeckhoven

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Jessie Theuns

Jessie Theuns

49

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Christina M Lill

Christina M Lill

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Andrew A Hicks

Andrew A Hicks

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George D. Mellick

George D Mellick

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Sung Wook Park

Sung Sup Park

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Vincent Mok

Vincent Mok

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Matthew J. Farrer

Matthew Farrer

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Aldo Quattrone

Aldo Quattrone

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Anthony Lang

Anthony E Lang

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Maria Barcikowska

Maria Barcikowska

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Suzanne Lesage

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Suzanne Lesage

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Thomas Gasser

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Karen E Morrison

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Carl E Clarke

Carl E Clarke

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Ekaterina Rogaeva

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Ekaterina Rogaeva

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Ryan J Uitti

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Zbigniew Wszolek

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Nobutaka Hattori

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Owen A Ross

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Beom S Jeon

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Eng-King Tan

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Peter Lichtner

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Peter A Silburn

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Rejko Krüger

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Grazia Annesi

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Karin Wirdefeldt

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Barbara Jasinska-Myga

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Barbara Jasinska-Myga

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Carles Vilariño-Güell

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Carles Vilariño-Güell

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Manu Sharma

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Georgios M Hadjigeorgiou

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Georgios M Hadjigeorgiou

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Georgia Xiromerisiou

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Grzegorz Opala

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Anna Krygowska-Wajs

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Tim M Strom

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Cecile Libioulle

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13 August 2017

Demetrius M. Maraganore

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Demetrius Maraganore

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Lars Bertram

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Maurizio F Facheris

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Gaetan Garraux

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Suzana Gispert

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Georg Auburger

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Juei-Jueng Lin

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Joanne D Stockton

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Wataru Satake

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Hiroyuki Tomiyama

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Kuo-Chu Yueh

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Miho Murata

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Zygmunt Jamrozik

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Timothy Lynch

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Jan O Aasly

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Maria Bozi

7

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13 August 2017

David Crosiers

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Thomas Meitnger

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Peter P Pramstaller

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Leonidas Stefanis

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Tatsushi Toda

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Harumi S Yomono

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Yi Zhao

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GEOPD consortium

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13 August 2017

language of work or name

English

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publication date

1 November 2012

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Journal of Medical Genetics

13 August 2017

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49

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721-726

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Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.

13 August 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Screening for VPS35 mutations in Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Exome sequencing: a transformative technology

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

VPS35 mutations in Parkinson disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Balance is the challenge – The impact of mitochondrial dynamics in Parkinson’s disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Genome-wide association study reveals genetic risk underlying Parkinson's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Validating, augmenting and refining genome-wide association signals

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Uncertainty in heterogeneity estimates in meta-analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Model-guided microarray implicates the retromer complex in Alzheimer's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Measuring inconsistency in meta-analyses

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Contribution of VPS35 genetic variability to LBD in the Flanders-Belgian population

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3488700

Identification of VPS35 mutations replicated in French families with Parkinson disease

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23125461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23125461

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMEDGENET-2012-101155

1 reference

13 August 2017

1 reference

13 August 2017

PubMed publication ID

23125461

1 reference