Identifying PD-causing genes and genetic susceptibility factors: current approaches and future prospects (Q39849125)

15 September 2017

title

Identifying PD-causing genes and genetic susceptibility factors: current approaches and future prospects (English)

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15 September 2017

1

Thomas Gasser

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15 September 2017

publication date

1 January 2010

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Progress in Brain Research

15 September 2017

published in

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15 September 2017

volume

183

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15 September 2017

page(s)

3-20

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The role of pathogenic DJ-1 mutations in Parkinson's disease.

15 September 2017

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Alpha-synuclein and Parkinson's disease: Implications from the screening of more than 1,900 patients

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Genetic evidence for the involvement of tau in progressive supranuclear palsy

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7 January 2021

Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy

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Cell systems and the toxic mechanism(s) of alpha-synuclein

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7 January 2021

Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study

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7 January 2021

Glucocerebrosidase gene mutations are associated with Parkinson's disease in southern Italy.

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7 January 2021

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Effects of Q/N-rich, polyQ, and non-polyQ amyloids on the de novo formation of the [PSI+] prion in yeast and aggregation of Sup35 in vitro

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7 January 2021

Multiple system atrophy: a sporadic synucleinopathy

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7 January 2021

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

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7 January 2021

Pink1, Parkin, DJ-1 and mitochondrial dysfunction in Parkinson's disease

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7 January 2021

Concurrence of alpha-synuclein and tau brain pathology in the Contursi kindred

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7 January 2021

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

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7 January 2021

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

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7 January 2021

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

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7 January 2021

Genetic variability in the SNCA gene influences α-synuclein levels in the blood and brain

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7 January 2021

A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

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7 January 2021

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

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7 January 2021

Hunting for genes and mutations: it's worth remembering the basics

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7 January 2021

Mendelian forms of Parkinson's disease

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7 January 2021

Molecular pathogenesis of Parkinson disease: insights from genetic studies

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7 January 2021

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

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7 January 2021

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

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7 January 2021

Filamentous nerve cell inclusions in neurodegenerative diseases

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7 January 2021

Cloning and sequencing of the cDNA encoding a core protein of the paired helical filament of Alzheimer disease: identification as the microtubule-associated protein tau

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

A large kindred with autosomal dominant Parkinson's disease

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7 January 2021

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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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Phenotype, diagnosis, and treatment of Gaucher's disease

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

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7 January 2021

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Novel PINK1 mutations in early-onset parkinsonism

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

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7 January 2021

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms

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7 January 2021

Finishing the euchromatic sequence of the human genome

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.

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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

Pre-fibrillar alpha-synuclein variants with impaired beta-structure increase neurotoxicity in Parkinson's disease models

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7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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7 January 2021

Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Genome-wide association studies in aging-related processes such as diabetes mellitus, atherosclerosis and cancer

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Tau haplotypes regulate transcription and are associated with Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Genomewide association study for onset age in Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

The diploid genome sequence of an individual human

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

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%2FS0079-6123%2810%2983001-8

7 January 2021

Parkinson's syndrome preceding clinical manifestation of Gaucher's disease

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Collaborative Analysis of α-Synuclein Gene Promoter Variability and Parkinson Disease

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

High-resolution whole-genome association study of Parkinson disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Sequencing technologies - the next generation

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Multiple regions of alpha-synuclein are associated with Parkinson's disease

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7 January 2021

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

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7 January 2021

Exome sequencing identifies the cause of a mendelian disorder

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism.

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Complete genomic screen in Parkinson disease: evidence for multiple genes.

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

alpha-Synuclein locus triplication causes Parkinson's disease

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Linkage disequilibrium and association of MAPT H1 in Parkinson disease

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7 January 2021

Alpha-synuclein in Lewy bodies

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7 January 2021

Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr ?-synuclein mutation

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Gaucher disease and parkinsonism: a phenotypic and genotypic characterization

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

PINK1 mutations are associated with sporadic early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

The complete genome of an individual by massively parallel DNA sequencing

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Tauopathies: classification and clinical update on neurodegenerative diseases associated with microtubule-associated protein tau

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

-Synuclein and Parkinson disease susceptibility

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Association analysis of MAPT H1 haplotype and subhaplotypes in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

Evolutionary toggling of the MAPT 17q21.31 inversion region

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https://api.crossref.org/works/10.1016%2FS0079-6123%2810%2983001-8

7 January 2021

10.1016/S0079-6123(10)83001-8

Identifiers

DOI

1 reference

15 September 2017

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