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DYSTONIA 18 (disorder)
Known as:
Paroxysmal dystonia, exercise-induced
, DYT18
, GLUT1 DEFICIENCY SYNDROME 2
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National Institutes of Health
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Related topics
Related topics
9 relations
Action Tremor
Autosomal dominant inheritance
Burr cell
Cerebral atrophy
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Broader (1)
Dystonia Disorders
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Genotype and allele frequencies of 2841A>T polymorphism in glucose transporter 1 gene in Turkish population
Z. Kayaalti
,
F. Özdemir
,
D. Kaya-Akyüzlü
,
T. Söylemezoğlu
2016
Corpus ID: 52860372
Glukoz transporteri (Glut1) hucrenin bazolateralinde yer almaktadir ve insulinden bagimsiz olarak glukozun tek yonlu tasinimini…
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2014
2014
靶向抑制 GLUT1 对糖尿病视网膜病变中视锥细胞的保护作用
石珂
,
赵璐
,
杨玉兰
,
王盈盈
,
汪昌运
2014
Corpus ID: 170795181
目的观察抑制视网膜上葡萄糖转运蛋白-1(glucosetransporter-1,GLUTl)对糖尿病视网膜病变中视锥细胞的影响。方法27只8周龄C57BL/6小鼠按随机数字表法分为正常对照组、糖尿病对照组和GLUT1小干扰核糖核酸(siRNA…
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Review
2013
Review
2013
Dystonia
F. Morgante
,
C. Klein
Continuum
2013
Corpus ID: 220585685
Purpose of ReviewThe purpose of this review is to provide an update on the classification, phenomenology, pathophysiology, and…
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Review
2010
Review
2010
Genetics of Primary Torsion Dystonia
N. Brüggemann
,
C. Klein
Current Neurology and Neuroscience Reports
2010
Corpus ID: 29472515
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically…
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2009
2009
ЭФФЕКТИВНАЯ ЭКСПРЕССИЯ GLUT1, GLUT2 И GLUT3 ЧЕЛОВЕКА В SCHIZOSACCHAROMYCES POMBE
С. Чэнь
,
Топин Чэнь
,
Чжичжау Лиу
,
Ч. Ху
,
Юйсинь Ян
,
Юйу Ван
2009
Corpus ID: 90539390
В делящихся дрожжах Schizosaccharomyces pombe в составе химерного белка с глутатион-S-трансферазой (GST…
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2009
2009
[Genetics of dystonia].
C. Kamm
Fortschritte der Neurologie Psychiatrie
2009
Corpus ID: 206288980
The dystonias comprise a heterogeneous group of movement disorders. In contrast to the frequent sporadic forms, a variety of rare…
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2008
2008
P173 Rôle du gêne GLUT1 dans la néphropathie du diabétique de type 2 dans la population tunisienne
N. Rekik
,
M. M. Feki
,
+9 authors
M. Abid
2008
Corpus ID: 71921682
2008
2008
GLUT1 deficiëntie syndroom.
Wilhelmina G. Leen
,
M. M. Verbeek
,
H. Scheffer
,
B.G.M. van Engelen
,
M. Willemsen
2008
Corpus ID: 160574356
2004
2004
Post-transcriptional regulation of glucose transporter-1 by an AU-rich element in the 3'UTR and by hnRNP A2.
M. Griffin
,
B. Hamilton
,
+5 authors
R. Nichols
Biochemical and Biophysical Research…
2004
Corpus ID: 19065930
2004
2004
glut1-deficiëntie: een diagnose die makkelijk gemist wordt
M. Pouwels
,
M. Willemsen
,
M. M. Verbeek
,
R. J. Soorani-Lunsing
2004
Corpus ID: 72400126
Summaryglut1 (glucose transport protein type 1) deficiency syndrome causes reduced blood brain barrier glucose transport. The…
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