Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts

Several causative genes have been identified for both dystonia-parkinsonism and neurodegeneration with brain iron accumulation (NBIA), yet many patients do not have mutations in any of the known genes. Mutations in the ATP13A2 lead to Kufor Rakeb disease, a form of autosomal recessive juvenile parki...

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Главные авторы: Kruer, Michael C., Paudel, Reema, Wagoner, Wendy, Sanford, Lynn, Kara, Eleanna, Gregory, Allison, Foltynie, Tom, Lees, Andrew, Bhatia, Kailash, Hardy, John, Hayflick, Susan J., Houlden, Henry
Формат: Artigo
Язык:Inglês
Опубликовано: 2012
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3619445/
https://ncbi.nlm.nih.gov/pubmed/22743658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neulet.2012.06.036
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