A 6.4MB duplication of the alpha-synuclein locus causing fronto-temporal dementia and parkinsonism - phenotype-genotype correlations

IMPORTANCE: SNCA locus duplications are associated with variable clinical features and reduced penetrance but the reasons underlying this variability are unknown. OBJECTIVE: 1) To report a novel family carrying a heterozygous 6.4Mb duplication of the SNCA locus with an atypical clinical presentation...

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Publicado no:JAMA Neurol
Main Authors: Kara, Eleanna, Kiely, Aoife P, Proukakis, Christos, Giffin, Nicola, Love, Seth, Hehir, Jason, Rantell, Khadija, Pandraud, Amelie, Hernandez, Dena G, Nacheva, Elizabeth, Pittman, Alan M, Nalls, Mike A, Singleton, Andrew B, Revesz, Tamas, Bhatia, Kailash P, Quinn, Niall, Hardy, John, Holton, Janice L, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4362700/
https://ncbi.nlm.nih.gov/pubmed/25003242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2014.994
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