Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population (Q47910797)

6 February 2018

title

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population (English)

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6 February 2018

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15

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6 February 2018

Nathalie Brouwers

Nathalie Brouwers

4

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Sebastiaan Engelborghs

6

Sebastiaan Engelborghs

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6 February 2018

Dirk Goossens

Dirk Goossens

Christine Van Broeckhoven

5

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14

Christine Van Broeckhoven

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6 February 2018

12

Peter P De Deyn

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6 February 2018

Marleen Van den Broeck

9

Marleen Van den Broeck

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6 February 2018

Patrick Cras

11

Patrick Cras

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6 February 2018

Barbara A Pickut

8

Barbara Pickut

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6 February 2018

Jurgen Del Favero

13

Jurgen Del-Favero

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6 February 2018

Ellen Corsmit

10

Ellen Corsmit

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6 February 2018

Karen Nuytemans

1

Karen Nuytemans

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6 February 2018

Philippe Pals

7

Philippe Pals

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6 February 2018

Bram Meeus

2

Bram Meeus

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6 February 2018

author name string

David Crosiers

3

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6 February 2018

publication date

1 July 2009

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6 February 2018

published in

Human Mutation

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6 February 2018

volume

30

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6 February 2018

issue

7

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6 February 2018

page(s)

1054-1061

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6 February 2018

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

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Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

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The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

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The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

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7 January 2021

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

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

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Detection of large-scale variation in the human genome

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Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

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7 January 2021

Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.

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7 January 2021

Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

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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

Heterozygousparkinpoint mutations are as common in control subjects as in Parkinson's patients

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7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease

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7 January 2021

LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

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7 January 2021

LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

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7 January 2021

Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism

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7 January 2021

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

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7 January 2021

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

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7 January 2021

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

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7 January 2021

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

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7 January 2021

Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum

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7 January 2021

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism

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7 January 2021

Lrrk2 pathogenic substitutions in Parkinson's disease

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7 January 2021

LRRK2 R1441G in Spanish patients with Parkinson's disease.

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7 January 2021

SIFT: Predicting amino acid changes that affect protein function

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7 January 2021

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

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7 January 2021

Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients

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7 January 2021

Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia

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7 January 2021

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

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7 January 2021

LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

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7 January 2021

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

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7 January 2021

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls

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7 January 2021

Case-control study of environmental risk factors for Parkinson's disease in Belgium

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7 January 2021

Parkin mutations are frequent in patients with isolated early-onset parkinsonism

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7 January 2021

Mutation in the alpha-synuclein gene identified in families with Parkinson's disease

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7 January 2021

Genomic investigation of alpha-synuclein multiplication and parkinsonism

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7 January 2021

alpha-Synuclein locus triplication causes Parkinson's disease

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7 January 2021

The Rab GTPase family

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7 January 2021

Pathogenic mutations in Parkinson disease

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7 January 2021

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

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7 January 2021

Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity

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7 January 2021

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

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7 January 2021

A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

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7 January 2021

The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia

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7 January 2021

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21007

1 reference

6 February 2018

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6 February 2018