Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood

Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine ‘transportopathy’ to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transp...

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Main Authors: Ng, Joanne, Zhen, Juan, Meyer, Esther, Erreger, Kevin, Li, Yan, Kakar, Naseebullah, Ahmad, Jamil, Thiele, Holger, Kubisch, Christian, Rider, Nicholas L., Holmes Morton, D., Strauss, Kevin A., Puffenberger, Erik G., D’Agnano, Daniela, Anikster, Yair, Carducci, Claudia, Hyland, Keith, Rotstein, Michael, Leuzzi, Vincenzo, Borck, Guntram, Reith, Maarten E. A., Kurian, Manju A.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2014
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3959557/
https://ncbi.nlm.nih.gov/pubmed/24613933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awu022
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