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A large study reveals no association between APOE and Parkinson's diseaseFederoff, Monica ; Jimenez-Rolando, Belen ; Nalls, Michael A ; Singleton, Andrew BNeurobiology of disease, 2012-05, Vol.46 (2), p.389-392 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of ApuliaSassi, Celeste ; Capozzo, Rosa ; Hammer, Monia ; Zecca, Chiara ; Federoff, Monica ; Blauwendraat, Cornelis ; Bernstein, Nick ; Ding, Jinhui ; Gibbs, J Raphael ; Price, Timothy ; Singleton, Andrew ; Logroscino, GiancarloScientific reports, 2021-03, Vol.11 (1), p.6353-6353, Article 6353 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegiaBettencourt, Conceição ; Salpietro, Vincenzo ; Efthymiou, Stephanie ; Chelban, Viorica ; Hughes, Deborah ; Pittman, Alan M ; Federoff, Monica ; Bourinaris, Thomas ; Spilioti, Martha ; Deretzi, Georgia ; Kalantzakou, Triantafyllia ; Houlden, Henry ; Singleton, Andrew B ; Xiromerisiou, GeorgiaOrphanet journal of rare diseases, 2017-11, Vol.12 (1), p.172-172, Article 172 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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SORL1 mutation in a Greek family with Parkinson's disease and dementiaXiromerisiou, Georgia ; Bourinaris, Thomas ; Houlden, Henry ; Lewis, Patrick A. ; Senkevich, Konstantin ; Hammer, Monia ; Federoff, Monica ; Khan, Alaa ; Spanaki, Cleanthe ; Hadjigeorgiou, Georgios M. ; Bonstanjopoulou, Sevasti ; Fidani, Liana ; Ermolaev, Aleksey ; Gan‐Or, Ziv ; Singleton, Andrew ; Vandrovcova, Jana ; Hardy, JohnAnnals of clinical and translational neurology, 2021-10, Vol.8 (10), p.1961-1969 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson diseaseLesage, Suzanne ; Bras, Jose ; Cormier-Dequaire, Florence ; Condroyer, Christel ; Nicolas, Aude ; Darwent, Lee ; Guerreiro, Rita ; Majounie, Elisa ; Federoff, Monica ; Heutink, Peter ; Wood, Nicholas W ; Gasser, Thomas ; Hardy, John ; Tison, François ; Singleton, Andrew ; Brice, AlexisNeurology, 2015-06, Vol.1 (1), p.e9-e9 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |