Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13 - Wikidata - awgldk - TriplyDB

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

http://www.wikidata.org/entity/Q28141878

about

The aetiology of idiopathic Parkinson's disease EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts.Distinct neurological disorders with ATP1A3 mutations State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis.Molecular cloning and characterization of porcine Na⁺/K⁺-ATPase isoforms α1, α2, α3 and the ATP1A3 promoter.Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.Primary dystonia: molecules and mechanisms.Milestones in dystonia.Primary dystonia: moribund or viable.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Genome-wide screen for modifiers of Na (+) /K (+) ATPase alleles identifies critical genetic loci.Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families.Possible sporadic rapid-onset dystonia-parkinsonism.

P2860

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P2860

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

http://www.wikidata.org/entity/Q28141878

description

1999 nî lūn-bûn

@nan

1999 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1999 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1999年の論文

@ja

1999年論文

@yue

1999年論文

@zh-hant

1999年論文

@zh-hk

1999年論文

@zh-mo

1999年論文

@zh-tw

1999年论文

@wuu

name

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@ast

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@en

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@nl

type

label

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@ast

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@en

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@nl

prefLabel

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@ast

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@en

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@nl

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P356

1531-8249(199908)46:2%3C176::AID-ANA6%3E3.0.CO;2-2

P1433

Annals of Neurology

P1476

Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13

@en

P2093

A Brashear

http://www.w3.org/2001/XMLSchema#string

C Klein

http://www.w3.org/2001/XMLSchema#string

D de Leon

http://www.w3.org/2001/XMLSchema#string

K Schilling

http://www.w3.org/2001/XMLSchema#string

L J Ozelius

http://www.w3.org/2001/XMLSchema#string

M Mineta

http://www.w3.org/2001/XMLSchema#string

M R Farlow

http://www.w3.org/2001/XMLSchema#string

P L Kramer

http://www.w3.org/2001/XMLSchema#string

S B Bressman

http://www.w3.org/2001/XMLSchema#string

W B Dobyns

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P2860

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

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

Permanent human parkinsonism due to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP): seven cases

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

Cloned glutamate receptors

Precise localization of human beta-globin gene complex on chromosome 11

The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance.

Functional and pathophysiological models of the basal ganglia.

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

P304

176-82

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scholarly article

P356

10.1002/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2

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P407

P433

2

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46

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1999-08-01T00:00:00Z

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P698

10443882

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P921

Parkinson's disease