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A 6.4 Mb Duplication of the ?-Synuclein Locus Causing Frontotemporal Dementia and Parkinsonism: Phenotype-Genotype Correlations.
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JAMA Neurol 2014 Jul;
Authors: Eleanna Kara, Aoife P Kiely, Christos Proukakis, Nicola Giffin, Seth Love, Jason Hehir, Khadija Rantell, Amelie Pandraud, Dena G Hernandez, Elizabeth Nacheva, Alan M Pittman, Mike A Nalls, Andrew B Singleton, Tamas Revesz, Kailash P Bhatia, Niall Quinn, John Hardy, Janice L Holton, Henry Houlden
?-Synuclein (SNCA) locus duplications are associated with variable clinical features and reduced penetrance but the reasons underlying this variability are unknown.
PMID: 25003242 [PubMed - as supplied by publisher]