A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12
- Author
- CHOUERY, E1 ; KFOURY, J1 ; DELAGUE, V2 ; JAIKH, N1 ; BEJJANI, P3 ; SERRE, J. L4 ; MEGARBANE, A1
[1] Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon
[2] INSERM UMR_S 910, Génétique Médicale et Génomique Fonctionnelle Faculté de Médecine de la Timone, Université de la Méditerranée, Marseille, France
[3] Neurology departement, Notre Dame des Secours Hospital, Byblos, Lebanon
[4] Université de Versailles-Saint Quentin en Yvelines, EA2493, Versailles, France - Source
Neurogenetics (Oxford. Print). 2008, Vol 9, Num 4, pp 287-293, 7 p ; ref : 24 ref
- Publisher
- Springer, Berlin
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Dopamine . GABA Dystonia . Homozygosity mapping Lod score
- Keyword (fr)
- Caractère autosomique Caractère récessif Carte génétique Cartographie Dopamine Dystonie GABA Génétique Locus Maladie héréditaire Neurologie Pathologie du système nerveux Torsion Catécholamine Mouvement involontaire Neurotransmetteur Pathologie de l'encéphale Pathologie du muscle strié Pathologie du système nerveux central Syndrome extrapyramidal Trouble neurologique
- Keyword (en)
- Autosomal character Recessive character Genetic mapping Cartography Dopamine Dystonia GABA Genetics Locus Genetic disease Neurology Nervous system diseases Torsion Catecholamine Involuntary movement Neurotransmitter Cerebral disorder Striated muscle disease Central nervous system disease Extrapyramidal syndrome Neurological disorder
- Keyword (es)
- Carácter autosómico Carácter recesivo Mapa genético Cartografía Dopamina Distonía GABA Genética Locus Enfermedad hereditaria Neurología Sistema nervioso patología Torsión Catecolamina Movimiento involuntario Neurotransmisor Encéfalo patología Músculo estriado patología Sistema nervosio central patología Extrapiramidal síndrome Trastorno neurológico
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Neurology Vertebrates : nervous system and sense organs
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20719816
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/s10048-008-0142-4 
https://dx.doi.org/10.1007/s10048-008-0142-4
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