A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition

We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia. Post-mortem examination of two males revealed widespread neuronal loss, with the most striking finding being neuronal...

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Main Authors: Garbern, James Y., Neumann, Manuela, Trojanowski, John Q., Lee, Virginia M.-Y., Feldman, Gerald, Norris, Joy W., Friez, Michael J., Schwartz, Charles E., Stevenson, Roger, Sima, Anders A. F.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2010
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2859154/
https://ncbi.nlm.nih.gov/pubmed/20395263
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awq071
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