Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q - Wikidata - awgldk - TriplyDB

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

http://www.wikidata.org/entity/Q24674894

about

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia Nab1, a corepressor of NGFI-A (Egr-1), contains an active transcriptional repression domain Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 A novel syndrome of episodic muscle weakness maps to xp22.3.Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.Diagnosis and treatment of paroxysmal dyskinesias revisited The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

P2860

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P2860

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

http://www.wikidata.org/entity/Q24674894

description

1996 nî lūn-bûn

@nan

1996 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

1996 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

1996年の論文

@ja

1996年論文

@yue

1996年論文

@zh-hant

1996年論文

@zh-hk

1996年論文

@zh-mo

1996年論文

@zh-tw

1996年论文

@wuu

name

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@ast

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@en

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@nl

type

label

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@ast

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@en

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@nl

prefLabel

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@ast

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@en

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@nl

P1433

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P1476

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P2093

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P2860

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P433

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P478

Q24674894-86D1DC95-E028-4920-AC37-ACB3F28C6C3E

P577

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P932

Q24674894-1EF8E372-299C-4F2C-9C7A-791E08CFEE97

P1433

American Journal of Human Genetics

P1476

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q

@en

P2093

A Kume

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

B Otterud

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

J K Fink

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

J Mathay

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

J Wilkowski

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

L Girbach

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

M Leppert

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

P Hedera

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

R Albin

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

S M Jones

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

P2860

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31

A calcium channel mutation causing hypokalemic periodic paralysis

Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis

Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24

Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism

Localization of a human brain sodium channel gene (SCN2A) to chromosome 2

The 1993-94 Généthon human genetic linkage map

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

P304

140-145

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P31

scholarly article

P407

P433

1

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P478

59

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P577

1996-07-01T00:00:00Z

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P698

8659518

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P932

1915128

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