Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patients (Q42642426)

4 November 2017

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

1 reference

4 November 2017

1 reference

0 references

Sebastiaan Engelborghs

5

object named as

Sebastiaan Engelborghs

1 reference

4 November 2017

2

Rosa Rademakers

1 reference

4 November 2017

Karen Nuytemans

1

1 reference

4 November 2017

Jessie Theuns

3

1 reference

4 November 2017

Philippe Pals

4

1 reference

4 November 2017

Barbara Pickut

6

1 reference

4 November 2017

Tim de Pooter

7

1 reference

4 November 2017

Karin Peeters

8

1 reference

4 November 2017

Maria Mattheijssens

9

1 reference

4 November 2017

Marleen Van den Broeck

10

1 reference

4 November 2017

Patrick Cras

11

1 reference

4 November 2017

Peter Paul De Deyn

12

1 reference

4 November 2017

Christine van Broeckhoven

13

1 reference

4 November 2017

16 January 2008

1 reference

European Journal of Human Genetics

4 November 2017

1 reference

4 November 2017

16

1 reference

4 November 2017

4

1 reference

4 November 2017

471-479

1 reference

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201986

4 November 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

The ubiquitin pathway in Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Genetics of Parkinson disease: paradigm shifts and future prospects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Roc, a Ras/GTPase domain in complex proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

LRRK2 in Parkinson's disease: protein domains and functional insights

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

GTP binding is essential to the protein kinase activity of LRRK2, a causative gene product for familial Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

LRRK2 R1441G in Spanish patients with Parkinson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Familial Parkinson's disease: clinical and genetic analysis of four Basque families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

SIFT: Predicting amino acid changes that affect protein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Mutations in LRRK2 other than G2019S are rare in a north american–based sample of familial Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Lrrk2 pathogenic substitutions in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Global distribution and reduced penetrance: Lrrk2 R1441C in an Irish Parkinson's disease kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

Western Nebraska family (family D) with autosomal dominant parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

inferred from DOI database lookup

7 January 2021

based on heuristic

Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

inferred from DOI database lookup

7 January 2021

based on heuristic

A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201986

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201986

1 reference

Dimensions Publication ID

4 November 2017

0 references

1 reference