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1 |
Material Type: Artigo
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALSJohnson, Janel O. ; Mandrioli, Jessica ; Benatar, Michael ; Abramzon, Yevgeniya ; Van Deerlin, Vivianna M. ; Trojanowski, John Q. ; Gibbs, J. Raphael ; Brunetti, Maura ; Gronka, Susan ; Wuu, Joanne ; Ding, Jinhui ; McCluskey, Leo ; Martinez-Lage, Maria ; Falcone, Dana ; Hernandez, Dena G. ; Arepalli, Sampath ; Chong, Sean ; Schymick, Jennifer C. ; Rothstein, Jeffrey ; Landi, Francesco ; Wang, Yong-Dong ; Calvo, Andrea ; Mora, Gabriele ; Sabatelli, Mario ; Monsurrò, Maria Rosaria ; Battistini, Stefania ; Salvi, Fabrizio ; Spataro, Rossella ; Sola, Patrizia ; Borghero, Giuseppe ; Galassi, Giuliana ; Scholz, Sonja W. ; Taylor, J. Paul ; Restagno, Gabriella ; Chiò, Adriano ; Traynor, Bryan J.Neuron (Cambridge, Mass.), 2010-12, Vol.68 (5), p.857-864 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritanceHernandez, Dena G. ; Reed, Xylena ; Singleton, Andrew B.Journal of neurochemistry, 2016-10, Vol.139 (S1), p.59-74 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Menopause accelerates biological agingLevine, Morgan E. ; Lu, Ake T. ; Chen, Brian H. ; Hernandez, Dena G. ; Singleton, Andrew B. ; Ferrucci, Luigi ; Bandinelli, Stefania ; Salfati, Elias ; Manson, JoAnn E. ; Quach, Austin ; Kusters, Cynthia D. J. ; Kuh, Diana ; Wong, Andrew ; Teschendorff, Andrew E. ; Widschwendter, Martin ; Ritz, Beate R. ; Absher, Devin ; Assimes, Themistocles L. ; Horvath, SteveProceedings of the National Academy of Sciences - PNAS, 2016-08, Vol.113 (33), p.9327-9332 [Periódico revisado por pares]United States: National Academy of SciencesTexto 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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DNA Methylation of Lipid-Related Genes Affects Blood Lipid LevelsPfeiffer, Liliane ; Wahl, Simone ; Pilling, Luke C ; Reischl, Eva ; Sandling, Johanna K ; Kunze, Sonja ; Holdt, Lesca M ; Kretschmer, Anja ; Schramm, Katharina ; Adamski, Jerzy ; Klopp, Norman ; Illig, Thomas ; Hedman, Åsa K ; Roden, Michael ; Hernandez, Dena G ; Singleton, Andrew B ; Thasler, Wolfgang E ; Grallert, Harald ; Gieger, Christian ; Herder, Christian ; Teupser, Daniel ; Meisinger, Christa ; Spector, Timothy D ; Kronenberg, Florian ; Prokisch, Holger ; Melzer, David ; Peters, Annette ; Deloukas, Panos ; Ferrucci, Luigi ; Waldenberger, MelanieCirculation. Cardiovascular genetics, 2015-04, Vol.8 (2), p.334-342 [Periódico revisado por pares]United States: American Heart Association, IncTexto completo disponível |
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Material Type: Artigo
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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with SpasticityHammer, Monia B. ; Eleuch-Fayache, Ghada ; Schottlaender, Lucia V. ; Nehdi, Houda ; Gibbs, J. Raphael ; Arepalli, Sampath K. ; Chong, Sean B. ; Hernandez, Dena G. ; Sailer, Anna ; Liu, Guoxiang ; Mistry, Pramod K. ; Cai, Huaibin ; Shrader, Ginamarie ; Sassi, Celeste ; Bouhlal, Yosr ; Houlden, Henry ; Hentati, Fayçal ; Amouri, Rim ; Singleton, Andrew B.American journal of human genetics, 2013-02, Vol.92 (2), p.245-251 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodiesGeiger, Joshua T ; Ding, Jinhui ; Crain, Barbara ; Pletnikova, Olga ; Letson, Christopher ; Dawson, Ted M ; Rosenthal, Liana S ; Pantelyat, Alexander ; Gibbs, J. Raphael ; Albert, Marilyn S ; Hernandez, Dena G ; Hillis, Argye E ; Stone, David J ; Singleton, Andrew B ; Hardy, John A ; Troncoso, Juan C ; Scholz, Sonja WNeurobiology of disease, 2016-10, Vol.94, p.55-62 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron diseaseJOHNSON, Janel O ; RAPHAEL GIBBS, J ; REILLY, Mary M ; MUNTONI, Francesco ; ABRAMZON, Yevgeniya ; HOULDEN, Henry ; SINGLETON, Andrew B ; MEGARBANE, Andre ; ANDONI URTIZBEREA, J ; HERNANDEZ, Dena G ; REGHAN FOLEY, A ; AREPALLI, Sampath ; PANDRAUD, Amelie ; SIMON-SANCHEZ, Javier ; CLAYTON, PeterBrain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2875-2882 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Assessment of APOE in atypical parkinsonism syndromesSabir, Marya S. ; Blauwendraat, Cornelis ; Ahmed, Sarah ; Serrano, Geidy E. ; Beach, Thomas G. ; Perkins, Matthew ; Rice, Ann C. ; Masliah, Eliezer ; Morris, Christopher M. ; Pihlstrom, Lasse ; Pantelyat, Alexander ; Resnick, Susan M. ; Cookson, Mark R. ; Hernandez, Dena G. ; Albert, Marilyn ; Dawson, Ted M. ; Rosenthal, Liana S. ; Houlden, Henry ; Pletnikova, Olga ; Troncoso, Juan ; Scholz, Sonja W.Neurobiology of disease, 2019-07, Vol.127, p.142-146 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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High-resolution inference of genetic relationships among Jewish populationsKopelman, Naama M ; Stone, Lewi ; Hernandez, Dena G ; Gefel, Dov ; Singleton, Andrew B ; Heyer, Evelyne ; Feldman, Marcus W ; Hillel, Jossi ; Rosenberg, Noah AEuropean journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.804-814 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |