Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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ApoE ϵ3-haplotype modulates Alzheimer beta-amyloid deposition in the brainMyllykangas, Liisa ; Polvikoski, Tuomo ; Reunanen, Karoliina ; Wavrant-De Vrieze, Fabienne ; Ellis, Clare ; Hernandez, Dena ; Sulkava, Raimo ; Kontula, Kimmo ; Verkkoniemi, Auli ; Notkola, Irma-Leena ; Hardy, John ; Perez-Tur, Jordi ; Haltia, Matti J. ; Tienari, Pentti J.American journal of medical genetics, 2002-04, Vol.114 (3), p.288-291 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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2 |
Material Type: Artigo
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Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and CaucasiansSubramony, S.H. ; Hernandez, Dena ; Adam, Amanda ; Smith-Jefferson, Stephanie ; Hussey, Jennifer ; Gwinn-Hardy, Katrina ; Lynch, Timothy ; McDaniel, Olga ; Hardy, John ; Farrer, Matt ; Singleton, AndrewMovement disorders, 2002-09, Vol.17 (5), p.1068-1071 [Periódico revisado por pares]New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
Material Type: Artigo
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A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletionDogu, Okan ; Johnson, Janel ; Hernandez, Dena ; Hanson, Melissa ; Hardy, John ; Apaydin, Hulya ; Özekmekçi, Sibel ; Sevim, Serhan ; Gwinn-Hardy, Katrina ; Singleton, AndrewMovement disorders, 2004-07, Vol.19 (7), p.812-816 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year periodClarimon, Jordi ; Johnson, Janel ; Djaldetti, Ruth ; Hernandez, Dena ; Hattori, Nobutaka ; Sroka, Hava ; Barhom, Yael ; Singleton, AndrewMovement disorders, 2005-07, Vol.20 (7), p.887-890 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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5 |
Material Type: Artigo
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Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's diseaseSimon-Sanchez, Javier ; Hanson, Melissa ; Singleton, Amanda ; Hernandez, Dena ; McInerney, Aideen ; Nussbaum, Robert ; Werner, John ; Gallardo, Marisol ; Weiser, Roberto ; Gwinn-Hardy, Katrina ; Singleton, Andrew B. ; Clarimon, JordiNeuroscience letters, 2005-07, Vol.382 (1), p.191-194 [Periódico revisado por pares]Shannon: Elsevier Ireland LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individualsSimon-Sanchez, Javier ; Scholz, Sonja ; Fung, Hon-Chung ; Matarin, Mar ; Hernandez, Dena ; Gibbs, J. Raphael ; Britton, Angela ; de Vrieze, Fabienne Wavrant ; Peckham, Elizabeth ; Gwinn-Hardy, Katrina ; Crawley, Anthony ; Keen, Judith C ; Nash, Josefina ; Borgaonkar, Digamber ; Hardy, John ; Singleton, AndrewHuman molecular genetics, 2007-01, Vol.16 (1), p.1-14 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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7 |
Material Type: Artigo
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humansvan de Leemput, Joyce ; Chandran, Jayanth ; Knight, Melanie A ; Holtzclaw, Lynne A ; Scholz, Sonja ; Cookson, Mark R ; Houlden, Henry ; Gwinn-Hardy, Katrina ; Fung, Hon-Chung ; Lin, Xian ; Hernandez, Dena ; Simon-Sanchez, Javier ; Wood, Nick W ; Giunti, Paola ; Rafferty, Ian ; Hardy, John ; Storey, Elsdon ; Gardner, R J McKinlay ; Forrest, Susan M ; Fisher, Elizabeth M C ; Russell, James T ; Cai, Huaibin ; Singleton, Andrew B Orr, HarryPLoS genetics, 2007-06, Vol.3 (6), p.e108 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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8 |
Material Type: Artigo
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Complex mutational patterns and size homoplasy at maize microsatellite lociLia, V. V ; Bracco, M ; Gottlieb, A. M ; Poggio, L ; Confalonieri, V. ATheoretical and applied genetics, 2007-11, Vol.115 (7), p.981-991 [Periódico revisado por pares]Heidelberg: Berlin/Heidelberg : Springer-VerlagTexto completo disponível |
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9 |
Material Type: Artigo
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A genome-wide association study of sporadic ALS in a homogenous Irish populationCronin, Simon ; Berger, Stephen ; Ding, Jinhui ; Schymick, Jennifer C ; Washecka, Nicole ; Hernandez, Dena G. ; Greenway, Matthew J. ; Bradley, Daniel G. ; Traynor, Bryan J. ; Hardiman, OrlaHuman molecular genetics, 2008-03, Vol.17 (5), p.768-774 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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10 |
Material Type: Artigo
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A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs): e1000072Melzer, David ; Perry, John RB ; Hernandez, Dena ; Corsi, Anna-Maria ; Stevens, Kara ; Rafferty, Ian ; Lauretani, Fulvio ; Murray, Anna ; Gibbs, J Raphael ; Paolisso, Giuseppe ; Rafiq, Sajjad ; Simon-Sanchez, Javier ; Lango, Hana ; Scholz, Sonja ; Weedon, Michael N ; Arepalli, Sampath ; Rice, Neil ; Washecka, Nicole ; Hurst, Alison ; Britton, Angela ; Henley, William ; Leemput, Joyce vande ; Li, Rongling ; Newman, Anne B ; Tranah, Greg ; Harris, Tamara ; Panicker, Vijay ; Dayan, Colin ; Bennett, Amanda ; McCarthy, Mark I ; Ruokonen, Aimo ; Jarvelin, Marjo-Riitta ; Guralnik, Jack ; Bandinelli, Stefania ; Frayling, Timothy M ; Singleton, Andrew ; Ferrucci, LuigiPLoS genetics, 2008-05, Vol.4 (5) [Periódico revisado por pares]San Francisco: Public Library of ScienceTexto completo disponível |