Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

Rapid-onset dystonia-parkinsonism (RDP) is a movement disorder associated with mutations in the ATP1A3 gene. Signs and symptoms of RDP commonly occur in adolescence or early adulthood and can be triggered by physical or psychological stress. Mutations in ATP1A3 are also associated with alternating h...

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Main Authors: Oblak, Adrian L., Hagen, Matthew C., Sweadner, Kathleen J., Haq, Ihtsham, Whitlow, Christopher T., Maldjian, Joseph A., Epperson, Francine, Cook, Jared F., Stacy, Mark, Murrell, Jill R., Ozelius, Laurie J., Brashear, Allison, Ghetti, Bernardino
Formato: Artigo
Idioma:Inglês
Publicado: Springer Berlin Heidelberg 2014
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Original Paper
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4059967/
https://ncbi.nlm.nih.gov/pubmed/24803225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-014-1279-x
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