(Q36770206)

16 August 2017

1 reference

title

Pathogenic mutations in Parkinson disease (English)

1 reference

16 August 2017

1 reference

1

Eng-King Tan

1 reference

16 August 2017

Lisa M Skipper

2

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16 August 2017

1 July 2007

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16 August 2017

1 reference

16 August 2017

28

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16 August 2017

7

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16 August 2017

641-653

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PINK1 (PARK6) associated Parkinson disease in Ireland

16 August 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

A clinical genetic study of Parkinson's disease: evidence for dominant transmission

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

Risk of Parkinson's disease among first-degree relatives: A community-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

Variability and validity of polymorphism association studies in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

A protein-chameleon: conformational plasticity of alpha-synuclein, a disordered protein involved in neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

A heterozygous effect for PINK1 mutations in Parkinson's disease?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Pesticides and Parkinson's disease--is there a link?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Synaptic vesicle depletion correlates with attenuated synaptic responses to prolonged repetitive stimulation in mice lacking alpha-synuclein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Oxidative damage of DJ-1 is linked to sporadic Parkinson and Alzheimer diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Case-control study of the parkin gene in early-onset Parkinson disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The synucleins: a family of proteins involved in synaptic function, plasticity, neurodegeneration and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Accelerated in vitro fibril formation by a mutant alpha-synuclein linked to early-onset Parkinson disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

RING finger 1 mutations in Parkin produce altered localization of the protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Molecular Pathways of Neurodegeneration in Parkinson's Disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

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/10.1002%2FHUMU.20507

7 January 2021

Lewy bodies and parkinsonism in families with parkin mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

LRRK2 mutations in Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Early and progressive sensorimotor anomalies in mice overexpressing wild-type human alpha-synuclein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Lipid rafts mediate the synaptic localization of alpha-synuclein.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

PINK1 protein in normal human brain and Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Failure to find alpha-synuclein gene dosage changes in 190 patients with familial Parkinson disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Nigrostriatal dopaminergic deficits and hypokinesia caused by inactivation of the familial Parkinsonism-linked gene DJ-1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The E46K mutation in alpha-synuclein increases amyloid fibril formation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mitochondrial pathology and apoptotic muscle degeneration in Drosophila parkin mutants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

α-Synuclein facilitates the toxicity of oxidized catechol metabolites: Implications for selective neurodegeneration in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Novel PINK1 mutations in early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

PARK8 LRRK2 parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

UCHL-1 is not a Parkinson's disease susceptibility gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Phenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Role of parkin mutations in 111 community-based patients with early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin disease: a phenotypic study of a large case series

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Accumulation of the authentic parkin substrate aminoacyl-tRNA synthetase cofactor, p38/JTV-1, leads to catecholaminergic cell death.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin is associated with cellular vesicles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Chronic Parkinsonism in humans due to a product of meperidine-analog synthesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mutations in NR4A2 associated with familial Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The ubiquitin pathway in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

How much phenotypic variation can be attributed to parkin genotype?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

UCHL1 is a Parkinson's disease susceptibility gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Dopaminergic loss and inclusion body formation in alpha-synuclein mice: implications for neurodegenerative disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin genetics: one model for Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

LRRK2 R1441G in Spanish patients with Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Diverse effects of pathogenic mutations of Parkin that catalyze multiple monoubiquitylation in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkinson's disease: a rethink of rodent models.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Drosophila DJ-1 mutants are selectively sensitive to environmental toxins associated with Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

DJ-1 is an indicator for endogenous reactive oxygen species elicited by endotoxin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Ultrastructural localization of parkin in the rat brainstem, thalamus and basal ganglia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Clinical findings in a large family with a parkin ex3delta40 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Synucleins are developmentally expressed, and alpha-synuclein regulates the size of the presynaptic vesicular pool in primary hippocampal neurons

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The parkin gene is not involved in late-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Familial Parkinson's disease-associated L166P mutation disrupts DJ-1 protein folding and function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Ubiquitin carboxy-terminal hydrolase L1 binds to and stabilizes monoubiquitin in neuron

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Yeast cells provide insight into alpha-synuclein biology and pathobiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mitochondrial dysfunction and oxidative damage in parkin-deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The alpha-synuclein mutation E46K promotes aggregation in cultured cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin mutations are frequent in patients with isolated early-onset parkinsonism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Drosophila parkin mutants have decreased mass and cell size and increased sensitivity to oxygen radical stress

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Differential neuropathological alterations in transgenic mice expressing alpha-synuclein from the platelet-derived growth factor and Thy-1 promoters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Intragenic deletion in the gene encoding ubiquitin carboxy-terminal hydrolase in gad mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Analysis of LRRK2 functional domains in nondominant Parkinson disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Deletion of the alpha-synuclein locus in a subpopulation of C57BL/6J inbred mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alpha-synuclein in Lewy bodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The Rab GTPase family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

DJ-1 has a role in antioxidative stress to prevent cell death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Marked variation in clinical presentation and age of onset in a family with a heterozygous parkin mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Dose-dependent protective effect of coffee, tea, and smoking in Parkinson's disease: a study in ethnic Chinese.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alpha-synuclein haplotypes implicated in risk of Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Genetic analysis of DJ-1 in a cohort Parkinson's disease patients of different ethnicity.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Differential expression of splice variant and wild-type parkin in sporadic Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Analysis of PINK1 in Asian patients with familial parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Genetic testing in Parkinson disease: promises and pitfalls

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Case-control study of UCHL1 S18Y variant in Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

PINK1 mutations in sporadic early-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

LRRK2 G2019S founder haplotype in the Chinese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkinson disease in twins: an etiologic study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

PINK1 mutations are associated with sporadic early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin-associated Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Loss of locus coeruleus neurons and reduced startle in parkin null mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Alterations in the solubility and intracellular localization of parkin by several familial Parkinson's disease-linked point mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Increased level of DJ-1 in the cerebrospinal fluids of sporadic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Complex relationship between Parkin mutations and Parkinson disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Functional association of the parkin gene promoter with idiopathic Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The neuron-specific protein PGP 9.5 is a ubiquitin carboxyl-terminal hydrolase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The Parkinson's disease-associated DJ-1 protein is a transcriptional co-activator that protects against neuronal apoptosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Parkin stabilizes microtubules through strong binding mediated by three independent domains.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Inactivation of Drosophila DJ-1 leads to impairments of oxidative stress response and phosphatidylinositol 3-kinase/Akt signaling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mitochondrial localization of the Parkinson's disease related protein DJ-1: implications for pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

The oxidation state of DJ-1 regulates its chaperone activity toward alpha-synuclein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20507

7 January 2021

Identifiers

DOI

10.1002/HUMU.20507

1 reference

16 August 2017

1 reference

PubMed ID

17385668