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Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

BACKGROUND: We and others have described the neurodegenerative disorder caused by G51D SNCA mutation which shares characteristics of Parkinson’s disease (PD) and multiple system atrophy (MSA). The objective of this investigation was to extend the description of the clinical and neuropathological hal...

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Vydáno v:Mol Neurodegener
Hlavní autoři: Kiely, Aoife P., Ling, Helen, Asi, Yasmine T., Kara, Eleanna, Proukakis, Christos, Schapira, Anthony H., Morris, Huw R., Roberts, Helen C., Lubbe, Steven, Limousin, Patricia, Lewis, Patrick A., Lees, Andrew J., Quinn, Niall, Hardy, John, Love, Seth, Revesz, Tamas, Houlden, Henry, Holton, Janice L.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4549856/
https://ncbi.nlm.nih.gov/pubmed/26306801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13024-015-0038-3
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