(Q37882589)

24 August 2017

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title

Milestones in PD genetics (English)

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24 August 2017

1

Thomas Gasser

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24 August 2017

2

John Hardy

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24 August 2017

3

Yoshikuni Mizuno

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24 August 2017

language of work or name

English

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publication date

1 May 2011

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24 August 2017

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24 August 2017

volume

26

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24 August 2017

issue

6

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24 August 2017

page(s)

1042-1048

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Familial parkinsonism: Our experience and review

24 August 2017

cites work

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

21 January 2018

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Mendelian forms of Parkinson's disease

21 January 2018

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A large kindred with autosomal dominant Parkinson's disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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alpha-Synuclein locus triplication causes Parkinson's disease

21 January 2018

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

21 January 2018

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

21 January 2018

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α-Synuclein in Lewy bodies

21 January 2018

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

21 January 2018

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

21 January 2018

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Multiple system atrophy: a sporadic synucleinopathy

21 January 2018

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

21 January 2018

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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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LRRK2 and Parkinson disease

21 January 2018

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

21 January 2018

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Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

21 January 2018

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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

21 January 2018

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Parkin is associated with cellular vesicles

21 January 2018

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

21 January 2018

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Familial juvenile parkinsonism: clinical and pathologic study in a family

21 January 2018

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Lewy bodies and parkinsonism in families with parkin mutations

21 January 2018

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

21 January 2018

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Deciphering the role of heterozygous mutations in genes associated with parkinsonism

21 January 2018

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

21 January 2018

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Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin

21 January 2018

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Parkin is recruited selectively to impaired mitochondria and promotes their autophagy

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Novel PINK1 mutations in early-onset parkinsonism

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

21 January 2018

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

21 January 2018

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

21 January 2018

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Characterization of PLA2G6 as a locus for dystonia-parkinsonism

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

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Glucocerebrosidase mutations in subjects with parkinsonism

21 January 2018

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

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Genomewide association studies and human disease

21 January 2018

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

21 January 2018

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

21 January 2018

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Frontotemporal dementia phenotype associated with MAPT gene duplication

21 January 2018

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Towards a complete resolution of the genetic architecture of disease

21 January 2018

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Genomewide association study for susceptibility genes contributing to familial Parkinson disease

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.23637

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release_cqnnh7l345dppj7nlb2uonane4

24 August 2017

Fatcat ID

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Fatcat

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

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