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Material Type: Artigo
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Genetic and phenotypic characterization of complex hereditary spastic paraplegiaKara, Eleanna ; Tucci, Arianna ; Manzoni, Claudia ; Lynch, David S ; Elpidorou, Marilena ; Bettencourt, Conceicao ; Chelban, Viorica ; Manole, Andreea ; Hamed, Sherifa A ; Haridy, Nourelhoda A ; Federoff, Monica ; Preza, Elisavet ; Hughes, Deborah ; Pittman, Alan ; Jaunmuktane, Zane ; Brandner, Sebastian ; Xiromerisiou, Georgia ; Wiethoff, Sarah ; Schottlaender, Lucia ; Proukakis, Christos ; Morris, Huw ; Warner, Tom ; Bhatia, Kailash P ; Korlipara, L V Prasad ; Singleton, Andrew B ; Hardy, John ; Wood, Nicholas W ; Lewis, Patrick A ; Houlden, HenryBrain (London, England : 1878), 2016-07, Vol.139 (Pt 7), p.1904-1918 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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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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Material Type: Artigo
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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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Material Type: Artigo
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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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Material Type: Artigo
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Multiple system atrophy: the application of genetics in understanding etiologyFederoff, Monica ; Schottlaender, Lucia V. ; Houlden, Henry ; Singleton, AndrewClinical autonomic research, 2015-02, Vol.25 (1), p.19-36 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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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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Lithium-Responsiveness in Bipolar Depression Patients Attenuates Circadian Rhythm DisturbancesFederoff, Monica ; McCarthy, Mike ; Kelsoe, John R.Biological psychiatry (1969), 2021-05, Vol.89 (9), p.S334-S334 [Periódico revisado por pares]Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Sleep and circadian rhythm disruption is corrected by lithium in a case of bipolar disorder with familial BRCA1 mutationFederoff, Monica ; McCarthy, Michael J.Bipolar disorders, 2021-02, Vol.23 (1), p.101-103 [Periódico revisado por pares]Denmark: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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A genome-wide association study in multiple system atrophySailer, Anna ; Scholz, Sonja W ; Nalls, Michael A ; Schulte, Claudia ; Federoff, Monica ; Price, T Ryan ; Lees, Andrew ; Ross, Owen A ; Dickson, Dennis W ; Mok, Kin ; Mencacci, Niccolo E ; Schottlaender, Lucia ; Chelban, Viorica ; Ling, Helen ; OʼSullivan, Sean S ; Wood, Nicholas W ; Traynor, Bryan J ; Ferrucci, Luigi ; Federoff, Howard J ; Mhyre, Timothy R ; Morris, Huw R ; Deuschl, Günther ; Quinn, Niall ; Widner, Hakan ; Albanese, Alberto ; Infante, Jon ; Bhatia, Kailash P ; Poewe, Werner ; Oertel, Wolfgang ; Höglinger, Günter U ; Wüllner, Ullrich ; Goldwurm, Stefano ; Pellecchia, Maria Teresa ; Ferreira, Joaquim ; Tolosa, Eduardo ; Bloem, Bastiaan R ; Rascol, Olivier ; Meissner, Wassilios G ; Hardy, John A ; Revesz, Tamas ; Holton, Janice L ; Gasser, Thomas ; Wenning, Gregor K ; Singleton, Andrew B ; Houlden, HenryNeurology, 2016-10, Vol.87 (15), p.1591-1598 [Periódico revisado por pares]United States: American Academy of NeurologyTexto completo disponível |
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Material Type: Artigo
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Genome-wide association study reveals genetic risk underlying Parkinson's diseaseSingleton, Andrew B ; Gasser, Thomas ; Simón-Sánchez, Javier ; Schulte, Claudia ; Bras, Jose M ; Sharma, Manu ; Gibbs, J Raphael ; Berg, Daniela ; Paisan-Ruiz, Coro ; Lichtner, Peter ; Scholz, Sonja W ; Hernandez, Dena G ; Krüger, Rejko ; Federoff, Monica ; Klein, Christine ; Goate, Alison ; Perlmutter, Joel ; Bonin, Michael ; Nalls, Michael A ; Illig, Thomas ; Gieger, Christian ; Houlden, Henry ; Steffens, Michael ; Okun, Michael S ; Racette, Brad A ; Cookson, Mark R ; Foote, Kelly D ; Fernandez, Hubert H ; Traynor, Bryan J ; Schreiber, Stefan ; Arepalli, Sampath ; Zonozi, Ryan ; Gwinn, Katrina ; van der Brug, Marcel ; Lopez, Grisel ; Chanock, Stephen J ; Schatzkin, Arthur ; Park, Yikyung ; Hollenbeck, Albert ; Gao, Jianjun ; Huang, Xuemei ; Wood, Nick W ; Lorenz, Delia ; Deuschl, Günther ; Chen, Honglei ; Riess, Olaf ; Hardy, John ANature genetics, 2009-12, Vol.41 (12), p.1308-1312 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |