Episodic movement disorders: from phenotype to genotype and back.

Item

http://www.wikidata.org/entity/Q38130456

description

article científic

@ca

article scientifique

@fr

articol științific

@ro

articolo scientifico

@it

artigo científico

@gl

artigo científico

@pt

artigo científico

@pt-br

artikel ilmiah

@id

artikull shkencor

@sq

artículo científico

@es

name

Episodic movement disorders: from phenotype to genotype and back.

@en

type

Item

label

Episodic movement disorders: from phenotype to genotype and back.

@en

prefLabel

Episodic movement disorders: from phenotype to genotype and back.

@en

P1476

Episodic movement disorders: from phenotype to genotype and back.

@en

P2093

Knut Brockmann

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

P2860

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

A human protein-protein interaction network: a resource for annotating the proteome

A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

P2888

s11910-013-0379-7

P304

379

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

P31

scholarly article

P356

10.1007/S11910-013-0379-7

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

P433

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

P478

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

P577

2013-10-01T00:00:00Z

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

P6179

1014843652

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

P698

23963607

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