Milestones in PD genetics (Q37882589)

24 August 2017

1 reference

title

Milestones in PD genetics (English)

1 reference

24 August 2017

1

Thomas Gasser

1 reference

24 August 2017

2

John Hardy

1 reference

24 August 2017

3

Yoshikuni Mizuno

1 reference

PubMed ID

21626549

24 August 2017

language of work or name

English

0 references

publication date

1 May 2011

1 reference

24 August 2017

1 reference

24 August 2017

26

1 reference

24 August 2017

6

1 reference

24 August 2017

1042-1048

1 reference

Familial parkinsonism: Our experience and review

24 August 2017

1 reference

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

21 January 2018

1 reference

Mendelian forms of Parkinson's disease

21 January 2018

1 reference

A large kindred with autosomal dominant Parkinson's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Alpha-synuclein in Lewy bodies

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Multiple system atrophy: a sporadic synucleinopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

LRRK2 and Parkinson disease

21 January 2018

1 reference

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond

21 January 2018

1 reference

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

21 January 2018

1 reference

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients

21 January 2018

1 reference

Parkin is associated with cellular vesicles

21 January 2018

1 reference

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

1 reference

Familial juvenile parkinsonism: clinical and pathologic study in a family.

21 January 2018

1 reference

Lewy bodies and parkinsonism in families with parkin mutations

21 January 2018

1 reference

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

21 January 2018

1 reference

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

21 January 2018

1 reference

Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin

21 January 2018

1 reference

Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

21 January 2018

1 reference

Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

21 January 2018

1 reference

PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Novel PINK1 mutations in early-onset parkinsonism

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36.

21 January 2018

1 reference

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders

21 January 2018

1 reference

The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization

21 January 2018

1 reference

DJ-1 is critical for mitochondrial function and rescues PINK1 loss of function

21 January 2018

1 reference

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

1 reference

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

21 January 2018

1 reference

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

21 January 2018

1 reference

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

1 reference

Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism

21 January 2018

1 reference

Role of Ca2+-independent phospholipase A2 in cell growth and signaling

21 January 2018

1 reference

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

21 January 2018

1 reference

FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome

21 January 2018

1 reference

cDNA cloning and expression analysis of new members of the mammalian F-box protein family

21 January 2018

1 reference

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

Glucocerebrosidase mutations in subjects with parkinsonism

21 January 2018

1 reference

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

1 reference

Genomewide association studies and human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease

21 January 2018

1 reference

Frontotemporal dementia phenotype associated with MAPT gene duplication.

21 January 2018

1 reference

Towards a complete resolution of the genetic architecture of disease

21 January 2018

1 reference

Genomewide association study for susceptibility genes contributing to familial Parkinson disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MDS.23637

1 reference

release_cqnnh7l345dppj7nlb2uonane4

24 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cqnnh7l345dppj7nlb2uonane4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

21626549

1 reference

PubMed ID

21626549