par Willemsen, Michél A;Verbeek, Marcel M;Kamsteeg, Erik-Jan;de Rijk-van Andel, Johanneke F;Aeby, Alec 
;Blau, Nenad;Burlina, Alberto;Donati, Maria A;Geurtz, Ben;Grattan-Smith, Padraic J;Haeussler, Martin;Hoffmann, Georg F;Jung, Hans;de Klerk, Johannis B;van der Knaap, Marjo S;Kok, Fernando;Leuzzi, Vincenzo;de Lonlay, Pascale;Megarbane, Andre;Monaghan, Hugh;Renier, Willy O;Rondot, Pierre;Ryan, Monique M;Seeger, Jürgen;Smeitink, Jan A;Steenbergen-Spanjers, Gerry C;Wassmer, Evangeline;Weschke, Bernhard;Wijburg, Frits A;Wilcken, Bridget;Zafeiriou, Dimitrios I;Wevers, Ron A
Référence Brain, 133, Pt 6, page (1810-1822)
Publication Publié, 2010-06
;Blau, Nenad;Burlina, Alberto;Donati, Maria A;Geurtz, Ben;Grattan-Smith, Padraic J;Haeussler, Martin;Hoffmann, Georg F;Jung, Hans;de Klerk, Johannis B;van der Knaap, Marjo S;Kok, Fernando;Leuzzi, Vincenzo;de Lonlay, Pascale;Megarbane, Andre;Monaghan, Hugh;Renier, Willy O;Rondot, Pierre;Ryan, Monique M;Seeger, Jürgen;Smeitink, Jan A;Steenbergen-Spanjers, Gerry C;Wassmer, Evangeline;Weschke, Bernhard;Wijburg, Frits A;Wilcken, Bridget;Zafeiriou, Dimitrios I;Wevers, Ron ARéférence Brain, 133, Pt 6, page (1810-1822)
Publication Publié, 2010-06
Article révisé par les pairs
| Titre: |
|
| Auteur: | Willemsen, Michél A; Verbeek, Marcel M; Kamsteeg, Erik-Jan; de Rijk-van Andel, Johanneke F; Aeby, Alec; Blau, Nenad; Burlina, Alberto; Donati, Maria A; Geurtz, Ben; Grattan-Smith, Padraic J; Haeussler, Martin; Hoffmann, Georg F; Jung, Hans; de Klerk, Johannis B; van der Knaap, Marjo S; Kok, Fernando; Leuzzi, Vincenzo; de Lonlay, Pascale; Megarbane, Andre; Monaghan, Hugh; Renier, Willy O; Rondot, Pierre; Ryan, Monique M; Seeger, Jürgen; Smeitink, Jan A; Steenbergen-Spanjers, Gerry C; Wassmer, Evangeline; Weschke, Bernhard; Wijburg, Frits A; Wilcken, Bridget; Zafeiriou, Dimitrios I; Wevers, Ron A |
| Informations sur la publication: | Brain, 133, Pt 6, page (1810-1822) |
| Statut de publication: | Publié, 2010-06 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Mots-clés: | Cerebrospinal fluid |
| Dystonia | |
| L-dopa | |
| Neurotransmitters | |
| Tyrosine hydroxylase | |
| MeSH keywords: | Age of Onset |
| Amino Acid Metabolism, Inborn Errors -- drug therapy -- genetics -- metabolism | |
| Brain -- metabolism | |
| Brain Diseases -- drug therapy -- genetics -- metabolism | |
| Catecholamines -- biosynthesis | |
| Child, Preschool | |
| Disease Progression | |
| Dopamine Agents -- therapeutic use | |
| Homovanillic Acid -- cerebrospinal fluid | |
| Humans | |
| Hydroxyindoleacetic Acid -- cerebrospinal fluid | |
| Hypokinesia -- drug therapy -- genetics -- metabolism | |
| Infant | |
| Levodopa -- therapeutic use | |
| Muscle Rigidity -- drug therapy -- genetics -- metabolism | |
| Mutation, Missense | |
| Phenotype | |
| Promoter Regions, Genetic | |
| Severity of Illness Index | |
| Tyrosine 3-Monooxygenase -- deficiency -- genetics | |
| Note générale: | Journal Article |
| Research Support, Non-U.S. Gov't | |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:0006-8950 |
| info:doi/10.1093/brain/awq087 | |
| info:pii/awq087 | |
| info:scp/77952995720 | |
| info:pmid/20430833 |
