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Material Type: Artigo
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The genetics of dystonia: new twists in an old taleCHARLESWORTH, Gavin ; BHATIA, Kailash P ; WOOD, Nicholas WBrain (London, England : 1878), 2013-07, Vol.136 (Pt 7), p.2017-2037 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2 -associated Parkinson's disease: a case-control studyHealy, Daniel G, MD ; Falchi, Mario, PhD ; O'Sullivan, Sean S, MD ; Bonifati, Vincenzo, MD ; Durr, Alexandra, MD ; Bressman, Susan, MD ; Brice, Alexis, MD ; Aasly, Jan, MD ; Zabetian, Cyrus P, MD ; Goldwurm, Stefano, PhD ; Ferreira, Joaquim J, MD ; Tolosa, Eduardo, MD ; Kay, Denise M, PhD ; Klein, Christine, MD ; Williams, David R, MD ; Marras, Connie, MD ; Lang, Anthony E, MD ; Wszolek, Zbigniew K, MD ; Berciano, Jose, MD ; Schapira, Anthony HV, MD ; Lynch, Timothy, MD ; Bhatia, Kailash P, MD ; Gasser, Thomas, MD ; Lees, Andrew J, MD ; Wood, Nicholas W, MDLancet neurology, 2008-07, Vol.7 (7), p.583-590 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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The phenotypic spectrum of DYT24 due to ANO3 mutationsStamelou, Maria ; Charlesworth, Gavin ; Cordivari, Carla ; Schneider, Susanne A. ; Kägi, Georg ; Sheerin, Una-Marie ; Rubio-Agusti, Ignacio ; Batla, Amit ; Houlden, Henry ; Wood, Nicholas W. ; Bhatia, Kailash P.Movement disorders, 2014-06, Vol.29 (7), p.928-934 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Stratification of candidate genes for Parkinson's disease using weighted protein-protein interaction network analysisFerrari, Raffaele ; Kia, Demis A ; Tomkins, James E ; Hardy, John ; Wood, Nicholas W ; Lovering, Ruth C ; Lewis, Patrick A ; Manzoni, ClaudiaBMC genomics, 2018-06, Vol.19 (1), p.452-452, Article 452 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Parkin disease: a phenotypic study of a large case seriesKhan, Naheed L. ; Graham, Elizabeth ; Critchley, Peter ; Schrag, Anette E. ; Wood, Nicholas W. ; Lees, Andrew J. ; Bhatia, Kailash P. ; Quinn, NiallBrain (London, England : 1878), 2003-06, Vol.126 (6), p.1279-1292 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control studyCavalleri, Gianpiero L, PhD ; Weale, Michael E, PhD ; Shianna, Kevin V, PhD ; Singh, Rinki, MD ; Lynch, John M, MD ; Grinton, Bronwyn, BSc ; Szoeke, Cassandra, PhD ; Murphy, Kevin, MD ; Kinirons, Peter, MD ; O'Rourke, Deirdre, MD ; Ge, Dongliang, PhD ; Depondt, Chantal, PhD ; Claeys, Kristl G, PhD ; Pandolfo, Massimo, MD ; Gumbs, Curtis, BS ; Walley, Nicole, BS ; McNamara, James, MD ; Mulley, John C, PhD ; Linney, Kristen N, RN ; Sheffield, Leslie J, FRACP ; Radtke, Rodney A, MD ; Tate, Sarah K, PhD ; Chissoe, Stephanie L, PhD ; Gibson, Rachel A, PhD ; Hosford, David, MD ; Stanton, Alice, PhD ; Graves, Tracey D, MRCP ; Hanna, Michael G, FRCP ; Eriksson, Kai, MD ; Kantanen, Anne-Mari, MD ; Kalviainen, Reetta, MD ; O'Brien, Terence J, MD ; Sander, Josemir W, MD, FRCP ; Duncan, John S, FCRP ; Scheffer, Ingrid E, PhD ; Berkovic, Samuel F, MD ; Wood, Nicholas W, FRCP ; Doherty, Colin P, MRCPI ; Delanty, Norman, FRCPI ; Sisodiya, Sanjay M, PhD ; Goldstein, David B, PhDLancet neurology, 2007-11, Vol.6 (11), p.970-980 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Genome-wide association studies: the key to unlocking neurodegeneration?Gandhi, Sonia ; Wood, Nicholas WNature neuroscience, 2010-07, Vol.13 (7), p.789-794 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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The Parkinson's Disease Mendelian Randomization Research PortalNoyce, Alastair J. ; Bandres‐Ciga, Sara ; Kim, Jonggeol ; Heilbron, Karl ; Kia, Demis ; Hemani, Gibran ; Xue, Angli ; Lawlor, Debbie A. ; Smith, George Davey ; Duran, Raquel ; Gan‐Or, Ziv ; Blauwendraat, Cornelis ; Gibbs, J. Raphael ; Hinds, David A. ; Yang, Jian ; Visscher, Peter ; Cuzick, Jack ; Morris, Huw ; Hardy, John ; Wood, Nicholas W. ; Nalls, Mike A. ; Singleton, Andrew B.Movement disorders, 2019-12, Vol.34 (12), p.1864-1872 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21Spencer, Chris C A ; Plagnol, Vincent ; Strange, Amy ; Gardner, Michelle ; Paisan-Ruiz, Coro ; Band, Gavin ; Barker, Roger A ; Bellenguez, Celine ; Bhatia, Kailash ; Blackburn, Hannah ; Blackwell, Jennie M ; Bramon, Elvira ; Brown, Martin A ; Brown, Matthew A ; Burn, David ; Casas, Juan-Pablo ; Chinnery, Patrick F ; Clarke, Carl E ; Corvin, Aiden ; Craddock, Nicholas ; Deloukas, Panos ; Edkins, Sarah ; Evans, Jonathan ; Freeman, Colin ; Gray, Emma ; Hardy, John ; Hudson, Gavin ; Hunt, Sarah ; Jankowski, Janusz ; Langford, Cordelia ; Lees, Andrew J ; Markus, Hugh S ; Mathew, Christopher G ; McCarthy, Mark I ; Morrison, Karen E ; Palmer, Colin N A ; Pearson, Justin P ; Peltonen, Leena ; Pirinen, Matti ; Plomin, Robert ; Potter, Simon ; Rautanen, Anna ; Sawcer, Stephen J ; Su, Zhan ; Trembath, Richard C ; Viswanathan, Ananth C ; Williams, Nigel W ; Morris, Huw R ; Donnelly, Peter ; Wood, Nicholas WHuman molecular genetics, 2011-01, Vol.20 (2), p.345-353 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic EpilepsyCavalleri, Gianpiero L. ; Walley, Nicole M. ; Soranzo, Nicole ; Mulley, John ; Doherty, Colin P. ; Kapoor, Ashish ; Depondt, Chantal ; Lynch, John M. ; Scheffer, Ingrid E. ; Heils, Armin ; Gehrmann, Anne ; Kinirons, Peter ; Gandhi, Sonia ; Satishchandra, Parthasarathy ; Wood, Nicholas W. ; Anand, Anuranjan ; Sander, Thomas ; Berkovic, Samuel F. ; Delanty, Norman ; Goldstein, David B. ; Sisodiya, Sanjay M.Epilepsia (Copenhagen), 2007-04, Vol.48 (4), p.706-712 [Periódico revisado por pares]Malden, USA: Blackwell Publishing IncTexto completo disponível |