Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

BACKGROUND: Dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of the dopamine transporter. We describe a cohort of children with mutations in the gene encoding the dopamine transporter (SLC6A3) with the aim to improve clinical and mo...

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Detalhes bibliográficos
Main Authors: Kurian, Manju A, Li, Yan, Zhen, Juan, Meyer, Esther, Hai, Nebula, Christen, Hans-Jürgen, Hoffmann, Georg F, Jardine, Philip, von Moers, Arpad, Mordekar, Santosh R, O'Callaghan, Finbar, Wassmer, Evangeline, Wraige, Elizabeth, Dietrich, Christa, Lewis, Timothy, Hyland, Keith, Heales, Simon JR, Sanger, Terence, Gissen, Paul, Assmann, Birgit E, Reith, Maarten EA, Maher, Eamonn R
Formato: Artigo
Idioma:Inglês
Publicado em: Lancet Pub. Group 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002401/
https://ncbi.nlm.nih.gov/pubmed/21112253
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S1474-4422(10)70269-6
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