Dystonic tremor caused by mutation of the glucose transporter gene GLUT1
- Author
- ROUBERGUE, Anne1 2 ; APARTIS, Emmanuelle3 4 ; LEVY, Richard2 4 ; MESNAGE, Valérie2 ; DOUMMAR, Diane1 ; TROCELLO, Jean-Marc5 ; ROZE, Emmanuel6 7 8 ; TAIEB, Guillaume9 ; BILLETTE DE VILLEMEUR, Thierry1 ; VUILLAUMIER-BARROT, Sandrine10 ; VIDAILHET, Marie4 6
[1] AP-HP, Service de Neuropédíatrie, Hôpital Trousseau, Paris, France
[2] AP-HP, Service de Neurologie, Hôpital St Antoine, Paris, France
[3] AP-HP, Service de Physiologie, Hôpital St Antoine, Paris, France
[4] Universite Pierre et Marie Curie-Paris-6, CRICM /Inserm UMR_S975 /CNRS UMR 7225, Paris, France
[5] AP-HP, Centre National de Reference de la Maladie de Wilson, Hôpital Lariboisiere, Paris, France
[6] AP-HP, Federation des Maladies du Systeme Nerveux, Hôpital Pitié-Salpêtrière, Paris, France
[7] AP-HP, Centre d'Investigation Clinique 9503, INSERM, Paris, France
[8] Universite Pierre et Marie Curie-Paris-6 INSERM UMRS 952, CNRS UMR 7224, Paris, France
[9] Service de Neurologie, Hôpital Gui de Chauliac, Montpellier, France
[10] AP-HP, Service de Biochimie A, Hôpital Bichat-Claude Bernard, Paris, France - Source
Journal of inherited metabolic disease. 2011, Vol 34, Num 2, pp 483-488, 6 p ; ref : 3/4 p
- CODEN
- JIMDDP
- ISSN
- 0141-8955
- Scientific domain
- Genetics; Nutrition, obesity, metabolic disorders
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Gène Génétique Maladie héréditaire Maladie métabolique Mutation Nutrition Tremblement Transporteur de glucose GLUT1 Déterminisme génétique Mouvement involontaire Pathologie du système nerveux Trouble neurologique
- Keyword (en)
- Gene Genetics Genetic disease Metabolic diseases Mutation Nutrition Tremor GLUT1 glucose transporter Genetic determinism Involuntary movement Nervous system diseases Neurological disorder
- Keyword (es)
- Gen Genética Enfermedad hereditaria Metabolismo patología Mutación Nutrición Temblor Determinismo genético Movimiento involuntario Sistema nervioso patología Trastorno neurológico
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole
- Discipline
- Medical genetics Metabolic diseases Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24081273
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s10545-010-9264-6 
https://dx.doi.org/10.1007/s10545-010-9264-6
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