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Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorderDempster, Emma L ; Pidsley, Ruth ; Schalkwyk, Leonard C ; Owens, Sheena ; Georgiades, Anna ; Kane, Fergus ; Kalidindi, Sridevi ; Picchioni, Marco ; Kravariti, Eugenia ; Toulopoulou, Timothea ; Murray, Robin M ; Mill, JonathanHuman molecular genetics, 2011-12, Vol.20 (24), p.4786-4796 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Abnormal mitochondrial dynamics, mitochondrial loss and mutant huntingtin oligomers in Huntington's disease: implications for selective neuronal damageSHIRENDEB, Ulziibat ; REDDY, Arubala P ; MANCZAK, Maria ; CALKINS, Marcus J ; PEIZHONG MAO ; TAGLE, Danilo A ; HEMACHANDRA REDDYL, PHuman molecular genetics, 2011-04, Vol.20 (7), p.1438-1455 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Genome-wide association study of circulating vitamin D levelsAhn, Jiyoung ; Yu, Kai ; Stolzenberg-Solomon, Rachael ; Simon, K. Claire ; McCullough, Marjorie L. ; Gallicchio, Lisa ; Jacobs, Eric J. ; Ascherio, Alberto ; Helzlsouer, Kathy ; Jacobs, Kevin B. ; Li, Qizhai ; Weinstein, Stephanie J. ; Purdue, Mark ; Virtamo, Jarmo ; Horst, Ronald ; Wheeler, William ; Chanock, Stephen ; Hunter, David J. ; Hayes, Richard B. ; Kraft, Peter ; Albanes, DemetriusHuman molecular genetics, 2010-07, Vol.19 (13), p.2739-2745 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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SDHA is a tumor suppressor gene causing paragangliomaBurnichon, Nelly ; Brière, Jean-Jacques ; Libé, Rossella ; Vescovo, Laure ; Rivière, Julie ; Tissier, Frédérique ; Jouanno, Elodie ; Jeunemaitre, Xavier ; Bénit, Paule ; Tzagoloff, Alexander ; Rustin, Pierre ; Bertherat, Jérôme ; Favier, Judith ; Gimenez-Roqueplo, Anne-PauleHuman molecular genetics, 2010-08, Vol.19 (15), p.3011-3020 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specificTobi, Elmar W. ; Lumey, L.H. ; Talens, Rudolf P. ; Kremer, Dennis ; Putter, Hein ; Stein, Aryeh D. ; Slagboom, P. Eline ; Heijmans, Bastiaan T.Human molecular genetics, 2009-11, Vol.18 (21), p.4046-4053 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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A genome-wide scan for common alleles affecting risk for autismPinto, Dalila ; Regan, Regina ; Magalhaes, Tiago R. ; Abrahams, Brett S. ; Pagnamenta, Alistair T. ; Almeida, Joana ; Bailey, Anthony J. ; Baird, Gillian ; Battaglia, Agatino ; Bolshakova, Nadia ; Bölte, Sven ; Bolton, Patrick F. ; Brennan, Sean ; Carson, Andrew R. ; Casallo, Guillermo ; Chu, Su H. ; Cochrane, Lynne ; Dawson, Geraldine ; de Jonge, Maretha ; Delorme, Richard ; Duketis, Eftichia ; Duque, Frederico ; Estes, Annette ; Fernandez, Bridget A. ; Fombonne, Eric ; Freitag, Christine M. ; Glessner, Joseph T. ; Goldberg, Jeremy ; Green, Jonathan ; Heron, Elizabeth A. ; Holt, Richard ; Hughes, Gillian ; Hus, Vanessa ; Kim, Cecilia ; Korvatska, Olena ; Kustanovich, Vlad ; Lajonchere, Clara M. ; Leboyer, Marion ; Leventhal, Bennett L. ; Liu, Xiao-Qing ; Lord, Catherine ; Lotspeich, Linda ; Marshall, Christian R. ; McConachie, Helen ; McMahon, William M. ; Melhem, Nadine M. ; Merikangas, Alison ; Migita, Ohsuke ; Munson, Jeff ; Nelson, Stanley F. ; Noakes, Carolyn ; Noor, Abdul ; Nygren, Gudrun ; Papanikolaou, Katerina ; Parr, Jeremy R. ; Poustka, Annemarie ; Poustka, Fritz ; Prasad, Aparna ; Renshaw, Katy ; Rickaby, Jessica ; Roberts, Wendy ; Roge, Bernadette ; Bierut, Laura J. ; Rice, John P. ; Salt, Jeff ; Sansom, Katherine ; Sato, Daisuke ; Segurado, Ricardo ; Shah, Naisha ; Sheffield, Val C. ; Soorya, Latha ; Stoppioni, Vera ; Tancredi, Raffaella ; Thompson, Ann P. ; Thomson, Susanne ; Tryfon, Ana ; Van Engeland, Herman ; Wang, Kai ; Wang, Zhouzhi ; Wassink, Thomas H. ; Wittemeyer, Kerstin ; Wood, Shawn ; Yaspan, Brian L. ; Zurawiecki, Danielle ; Buxbaum, Joseph D. ; Cantor, Rita M. ; Cook, Edwin H. ; Coon, Hilary ; Cuccaro, Michael L. ; Gallagher, Louise ; Geschwind, Daniel H. ; Gill, Michael ; Haines, Jonathan L. ; Paterson, Andrew D. ; Sutcliffe, James S. ; Szatmari, Peter ; Vicente, Astrid M. ; Wijsman, Ellen M. ; Devlin, Bernie ; Hallmayer, JoachimHuman molecular genetics, 2010-10, Vol.19 (20), p.4072-4082 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32STEFFEN, Michael Steffen ; LEU, Costin ; LA NEVE, Angela ; CRICHIUTTI, Giovanni ; DE KOVEL, Carolien G. F ; TRENITE, Dorothée Kasteleijn-Nolst ; DE HAAN, Gerrit-Jan ; LINDHOUT, Dick ; GAUS, Verena ; SCHMITZ, Bettina ; JANZ, Dieter ; WEBER, Yvonne G ; RUPPERT, Ann-Kathrin ; BECKER, Felicitas ; LERCHE, Holger ; STEINHOFF, Bernhard J ; KLEEFUSS-LIE, Ailing A ; KUNZ, Wolfram S ; SURGES, Rainer ; ELGER, Christian E ; MUHLE, Hiltrud ; VON SPICZAK, Sarah ; OSTERTAG, Philipp ; ZARA, Federico ; HELBIG, Ingo ; STEPHANI, Ulrich ; MØLLER, Rikke S ; HJALGRIM, Helle ; DIBBENS, Leanne M ; BELLOWS, Susannah ; OLIVER, Karen ; MULLEN, Saul ; SCHEFFER, Ingrid E ; BERKOVIC, Samuel F ; STRIANO, Pasquale ; EVERETT, Kate V ; GARDINER, Mark R ; MARINI, Carla ; GUERRINI, Renzo ; LEHESJOKI, Anna-Elina ; SIREN, Auli ; ROBBIANO, Angela ; CAPOVILLA, Giuseppe ; TINUPER, Paolo ; GAMBARDELLA, Antonio ; BIANCHI, AmedeoHuman molecular genetics, 2012-12, Vol.21 (24), p.5359-5372 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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DJ-1 acts in parallel to the PINK1/parkin pathway to control mitochondrial function and autophagyTHOMAS, Kelly Jean ; MCCOY, Melissa K ; BLACKINTON, Jeff ; BEILINA, Alexandra ; VAN DER BRUG, Marcel ; SANDEBRING, Anna ; MILLER, David ; MARIC, Dragan ; CEDAZO-MINGUEZ, Angel ; COOKSON, Mark RHuman molecular genetics, 2011-01, Vol.20 (1), p.40-50 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisCOUTHOUIS, Julien ; HART, Michael P ; KIM, Cecilia E ; FRACKELTON, Edward C ; SOLSKI, Jennifer A ; WILLIAMS, Kelly L ; CLAY-FALCONE, Dana ; ELMAN, Lauren ; MCCLUSKEY, Leo ; GREENE, Robert ; HAKONARSON, Hakon ; KALB, Robert G ; ERION, Renske ; LEE, Virginia M. Y ; TROJANOWSKI, John Q ; NICHOLSON, Garth A ; BLAIR, Ian P ; BONINI, Nancy M ; VAN DEERLIN, Vivianna M ; MOURELATOS, Zissimos ; SHORTER, James ; GITLER, Aaron D ; KING, Oliver D ; DIAZ, Zamia ; NAKAYA, Tadashi ; IBRAHIM, Fadia ; KIM, Hyung-Jun ; MOJSILOVIC-PETROVIC, Jelena ; PANOSSIAN, SaareneHuman molecular genetics, 2012-07, Vol.21 (13), p.2899-2911 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Broad activation of the ubiquitin―proteasome system by Parkin is critical for mitophagyCHAN, Nickie C ; SALAZAR, Anna M ; PHAM, Anh H ; SWEREDOSKI, Michael J ; KOLAWA, Natalie J ; GRAHAM, Robert L. J ; HESS, Sonja ; CHAN, David CHuman molecular genetics, 2011-05, Vol.20 (9), p.1726-1737 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |