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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Bibliografski detalji
Izdano u:Mol Neurodegener
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2015
Teme:
Research Article
Online pristup: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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