(Q54571312)

1 June 2018

title

Comprehensive mutational analysis of LRRK2 reveals variants supporting association with autosomal dominant Parkinson's disease. (English)

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1 June 2018

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9

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Peter Henry St George-Hyslop

Peter St George-Hyslop

10

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Ekaterina Rogaeva

4

Ekaterina Rogaeva

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Nobutaka Hattori

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Connie Fernández-Cid Marras

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8

Connie Marras

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6

Yoshikuni Mizuno

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3

Hiroyuki Tomiyama

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Shigeo Murayama

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Shigeo Murayama

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1 June 2018

author name string

Naomi Seki

1

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1 June 2018

Yuji Takahashi

2

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Jun Goto

11

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Shoji Tsuji

12

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publication date

28 July 2011

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1 June 2018

Journal of Human Genetics

published in

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1 June 2018

volume

56

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issue

9

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1 June 2018

page(s)

671-675

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1 June 2018

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

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The ubiquitin pathway in Parkinson's disease

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

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

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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

New developments in high-throughput resequencing and variation detection using high density microarrays

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population

21 January 2018

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An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.

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Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans

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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.

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Analysis of LRRK2 functional domains in nondominant Parkinson disease.

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The leucine-rich repeat as a protein recognition motif

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Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease

21 January 2018

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Comprehensive sequencing of the LRRK2 gene in patients with familial Parkinson's disease from North Africa

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LRRK2 gene variation and its contribution to Parkinson disease

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

LRRK2 Gly2385Arg variant is a risk factor of Parkinson's disease among Han-Chinese from mainland China

21 January 2018

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LRRK2 Gly2385Arg mutation and clinical features in a Chinese population with early-onset Parkinson's disease compared to late-onset patients

21 January 2018

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LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease

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Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

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The role of common genetic risk variants in Parkinson disease

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

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

21 January 2018

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Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Mutations for Gaucher disease confer high susceptibility to Parkinson disease

21 January 2018

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Clinicogenetic study of mutations inLRRK2 exon 41 in Parkinson's disease patients from 18 countries

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Lrrk2 pathogenic substitutions in Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2011.79

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

7 January 2021

High-throughput variation detection and genotyping using microarrays

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

7 January 2021

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%2FJHG.2011.79

7 January 2021

The G2019S LRRK2 mutation is rare in Korean patients with Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

7 January 2021

Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease*.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

7 January 2021

The LRRK2 G2385R variant is a risk factor for sporadic Parkinson's disease in the Korean population

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.79

7 January 2021

Identifiers

DOI

10.1038/JHG.2011.79

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1 June 2018

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1 June 2018