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1 |
Material Type: Artigo
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Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosisJohnson, Janel O ; Glynn, Shannon M ; Gibbs, J Raphael ; Nalls, Mike A ; Sabatelli, Mario ; Restagno, Gabriella ; Drory, Vivian E ; Chiò, Adriano ; Rogaeva, Ekaterina ; Traynor, Bryan JBrain (London, England : 1878), 2014-12, Vol.137 (Pt 12), p.e311-e311 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Abundant quantitative trait loci exist for DNA methylation and gene expression in human brainGibbs, J Raphael ; van der Brug, Marcel P ; Hernandez, Dena G ; Traynor, Bryan J ; Nalls, Michael A ; Lai, Shiao-Lin ; Arepalli, Sampath ; Dillman, Allissa ; Rafferty, Ian P ; Troncoso, Juan ; Johnson, Robert ; Zielke, H Ronald ; Ferrucci, Luigi ; Longo, Dan L ; Cookson, Mark R ; Singleton, Andrew B Flint, JonathanPLoS genetics, 2010-05, Vol.6 (5), p.e1000952-e1000952 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Distinct DNA methylation changes highly correlated with chronological age in the human brainHERNANDEZ, Dena G ; NALLS, Michael A ; SINGLETON, Andrew B ; RAPHAEL GIBBS, J ; AREPALLI, Sampath ; VAN DER BRUG, Marcel ; CHONG, Sean ; MOORE, Matthew ; LONGO, Dan L ; COOKSON, Mark R ; TRAYNOR, Bryan JHuman molecular genetics, 2011-03, Vol.20 (6), p.1164-1172 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathiesTRABZUNI, Daniah ; WRAY, Selina ; AREPALLI, Sampath ; SINGLETON, Andrew B ; COOKSON, Mark R ; PITTMAN, Alan M ; DE SILVA, Rohan ; WEALE, Michael E ; HARDY, John ; RYTEN, Mina ; VANDROVCOVA, Jana ; RAMASAMY, Adaikalavan ; WALKER, Robert ; SMITH, Colin ; LUK, Connie ; RAPHAEL GIBBS, J ; DILLMAN, Allissa ; HERNANDEZ, Dena GHuman molecular genetics, 2012-09, Vol.21 (18), p.4094-4103 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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5 |
Material Type: Artigo
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A comprehensive analysis of SNCA‐related genetic risk in sporadic parkinson diseasePihlstrøm, Lasse ; Blauwendraat, Cornelis ; Cappelletti, Chiara ; Berge‐Seidl, Victoria ; Langmyhr, Margrete ; Henriksen, Sandra Pilar ; van de Berg, Wilma D. J. ; Gibbs, J. Raphael ; Cookson, Mark R. ; Singleton, Andrew B. ; Nalls, Mike A. ; Toft, MathiasAnnals of neurology, 2018-07, Vol.84 (1), p.117-129 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto 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 |
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7 |
Material Type: Artigo
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Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association studyLaaksovirta, Hannu, MD ; Peuralinna, Terhi, MSc ; Schymick, Jennifer C, PhD ; Scholz, Sonja W, MD ; Lai, Shaoi-Lin, MD ; Myllykangas, Liisa, MD ; Sulkava, Raimo, MD ; Jansson, Lilja ; Hernandez, Dena G, MSc ; Gibbs, J Raphael, BS ; Nalls, Michael A, PhD ; Heckerman, David, MD ; Tienari, Pentti J, MD ; Traynor, Bryan J, DrLancet neurology, 2010-10, Vol.9 (10), p.978-985 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Application of genome-wide single nucleotide polymorphism typing: simple association and beyondGibbs, J Raphael ; Singleton, Andrew Fisher, Elizabeth M. CPLoS genetics, 2006-10, Vol.2 (10), p.e150-e150 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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9 |
Material Type: Artigo
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ATXN2 intermediate expansions in amyotrophic lateral sclerosisGlass, Jonathan D ; Dewan, Ramita ; Ding, Jinhui ; Gibbs, J Raphael ; Dalgard, Clifton ; Keagle, Pamela J ; Shankaracharya ; García-Redondo, Alberto ; Traynor, Bryan J ; Chia, Ruth ; Landers, John EBrain (London, England : 1878), 2022-08, Vol.145 (8), p.2671-2676 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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10 |
Material Type: Artigo
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Parkinson's disease in GTP cyclohydrolase 1 mutation carriersMENCACCI, Niccolò E ; ISAIAS, Ioannis U ; NOYCE, Alastair J ; MOK, Kin Y ; OPLADEN, Thomas ; KUNSTMANN, Erdmute ; HODECKER, Sybille ; MÜNCHAU, Alexander ; VOLKMANN, Jens ; SAMNICK, Samuel ; SIDLE, Katie ; NANJI, Tina ; REICH, Martin M ; SWEENEY, Mary G ; HOULDEN, Henry ; BATLA, Amit ; ZECCHINELLI, Anna L ; PEZZOLI, Gianni ; MAROTTA, Giorgio ; LEES, Andrew ; ALEGRIA, Paulo ; KRACK, Paul ; CORMIER-DEQUAIRE, Florence ; GANOS, Christos ; LESAGE, Suzanne ; BRICE, Alexis ; HEUTINK, Peter ; GASSER, Thomas ; LUBBE, Steven J ; MORRIS, Huw R ; TABA, Pille ; KOKS, Sulev ; MAJOUNIE, Elisa ; GIBBS, J. Raphael ; PLAGNOL, Vincent ; SINGLETON, Andrew ; HARDY, John ; KLEBE, Stephan ; BHATIA, Kailash P ; WOOD, Nicholas W ; POLKE, James M ; BRAS, Jose ; HERSHESON, Joshua ; STAMELOU, Maria ; PITTMAN, Alan MBrain (London, England : 1878), 2014-09, Vol.137 (Pt 9), p.2480-2492 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |