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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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Główni autorzy:	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
Format:	Artigo
Język:	Inglês
Wydane:	Springer Berlin Heidelberg 2014
Hasła przedmiotowe:	Original Paper
Dostęp online:	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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Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings

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