Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. - Wikidata - wikimedia - TriplyDB

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

http://www.wikidata.org/entity/Q34044060

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Genetic Profile, Environmental Exposure, and Their Interaction in Parkinson's Disease Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data.Beyond the Classic Segawa Disease, GCH1-Associated Neurodegenerative Parkinsonism: Practical Considerations for Physicians.A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.Novel GCH1 variant in Dopa-responsive dystonia and Parkinson's disease.Reduced Number of Pigmented Neurons in the Substantia Nigra of Dystonia Patients? Findings from Extensive Neuropathologic, Immunohistochemistry, and Quantitative Analyses.A new knock-in mouse model of l-DOPA-responsive dystonia.Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease.Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.Parkinsonism in Association with Dihydropteridine Reductase Deficiency.Parkinsonism following neuroleptic exposure: A double-hit hypothesis?Dopa-responsive dystonia--clinical and genetic heterogeneity.Monoamine neurotransmitter disorders--clinical advances and future perspectives.The Concept of Prodromal Parkinson's Disease.Aging modifies the effect of GCH1 RS11158026 on DAT uptake and Parkinson's disease clinical severity.Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?Update on the Genetics of Dystonia.Association of four new candidate genetic variants with Parkinson's disease in a Han Chinese population.Transcranial sonography in dopa-responsive dystonia.Reply: Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.DNAJC12 and dopa-responsive nonprogressive parkinsonism.Variability of presynaptic nigrostriatal dopaminergic function and clinical heterogeneity in a dopa-responsive dystonia family with GCH-1 gene mutation.Masaya Segawa, MD, PhD, 1936-2014.Parkinsonism in GTP cyclohydrolase 1 mutation carriers.Parkinsonism in GTP cyclohydrolase 1-deficient DOPA-responsive dystonia.Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in a Drosophila model of Parkinson's disease.Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice.Hereditary dystonia and parkinsonism: two sides of the same coin?Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer's disease pathogenesis.Atypical presentation of dopa‐responsive dystonia in Taiwan.Rare GCH1 heterozygous variants contributing to Parkinson's disease.Dystonia.Premotor-motor excitability is altered in dopa-responsive dystonia.Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.

P2860

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P2860

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

http://www.wikidata.org/entity/Q34044060

description

2014 nî lūn-bûn

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2014 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հուլիսին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

@zh-hk

2014年論文

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2014年論文

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2014年论文

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name

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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type

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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prefLabel

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

@nl

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Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

@en

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Alastair J Noyce

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Amit Batla

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Anna L Zecchinelli

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Elisa Majounie

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Erdmute Kunstmann

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Florence Cormier-Dequaire

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Henry Houlden

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Huw R Morris

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International Parkinson’s Disease Genomics Consortium and UCL-exomes consortium

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J Raphael Gibbs

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P2860

A two-stage meta-analysis identifies several new loci for Parkinson's disease

The genetics and neuropathology of Parkinson's disease

Striatal biopterin and tyrosine hydroxylase protein reduction in dopa-responsive dystonia

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases

Parkinson's disease

Chronic L-DOPA administration is not toxic to the remaining dopaminergic nigrostriatal neurons, but instead may promote their functional recovery, in rats with partial 6-OHDA or FeCl(3) nigrostriatal lesions.

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.

Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease.

The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease.

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2480-2492

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scholarly article

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10.1093/BRAIN/AWU179

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P433

Pt 9

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137

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Vincent Plagnol

Alexander Münchau

Nicholas W. Wood

Kailash Phatechand Bhatia

Andrew John Lees

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2014-07-02T00:00:00Z

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264057848

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24993959

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Parkinson's disease

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4132650

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