GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
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Analyzing clinical and electrophysiological characteristics of Paroxysmal DyskinesiaThe clinical and genetic heterogeneity of paroxysmal dyskinesias.Crystal structure of the human glucose transporter GLUT1Molecular Dynamics Simulations of the Human Glucose Transporter GLUT1GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder.A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Treatment of paroxysmal dyskinesias.Paroxysmal dyskinesias.Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.The genetics of dystonias.Paroxysmal Nonepileptic Events in Glut1 Deficiency.Dystonic tremor caused by mutation of the glucose transporter gene GLUT1.Milestones in dystonia.Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes.Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).Pediatric movement disorders: Five new thingsEpisodic movement disorders: from phenotype to genotype and back.How does fasting trigger migraine? A hypothesis.Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification.Glucose Transporters at the Blood-Brain Barrier: Function, Regulation and Gateways for Drug Delivery.The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.Partial effectiveness of acetazolamide in a mild form of GLUT1 deficiency: a pediatric observation.Milder phenotypes of glucose transporter type 1 deficiency syndrome.Expanding the Spectrum of Dopa-Responsive Dystonia (DRD) and Proposal for New Definition: DRD, DRD-plus, and DRD Look-alike.Paroxysmal exercise-induced dystonia due to GLUT1 mutation can be responsive to levodopa: a case report
P2860
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P2860
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
description
2009 nî lūn-bûn
@nan
2009 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@ast
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@en
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@nl
type
label
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@ast
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@en
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@nl
prefLabel
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@ast
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@en
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@nl
P2093
P2860
P50
P356
P1433
P1476
GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
@en
P2093
Holger Lerche
Ines Garcia-Gorostiaga
Susanne A Schneider
Yvonne G Weber
P2860
P304
P356
10.1002/MDS.22507
P407
P577
2009-08-01T00:00:00Z