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Refinado por: assunto: Genetics remover
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1
ApoE ϵ3-haplotype modulates Alzheimer beta-amyloid deposition in the brain
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Artigo
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ApoE ϵ3-haplotype modulates Alzheimer beta-amyloid deposition in the brain

Myllykangas, 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 Company

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2
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
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Artigo
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Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

Subramony, S.H. ; Hernandez, Dena ; Adam, Amanda ; Smith-Jefferson, Stephanie ; Hussey, Jennifer ; Gwinn-Hardy, Katrina ; Lynch, Timothy ; McDaniel, Olga ; Hardy, John ; Farrer, Matt ; Singleton, Andrew

Movement disorders, 2002-09, Vol.17 (5), p.1068-1071 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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3
A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion
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Artigo
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A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion

Dogu, Okan ; Johnson, Janel ; Hernandez, Dena ; Hanson, Melissa ; Hardy, John ; Apaydin, Hulya ; Özekmekçi, Sibel ; Sevim, Serhan ; Gwinn-Hardy, Katrina ; Singleton, Andrew

Movement disorders, 2004-07, Vol.19 (7), p.812-816 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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4
Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year period
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Artigo
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Mutation of the Parkin gene in a Persian family: Clinical progression over a 40-year period

Clarimon, Jordi ; Johnson, Janel ; Djaldetti, Ruth ; Hernandez, Dena ; Hattori, Nobutaka ; Sroka, Hava ; Barhom, Yael ; Singleton, Andrew

Movement disorders, 2005-07, Vol.20 (7), p.887-890 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease
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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 disease

Simon-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, Jordi

Neuroscience letters, 2005-07, Vol.382 (1), p.191-194 [Periódico revisado por pares]

Shannon: Elsevier Ireland Ltd

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6
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
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Artigo
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Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

Simon-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, Andrew

Human molecular genetics, 2007-01, Vol.16 (1), p.1-14 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
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Artigo
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Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

van 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, Harry

PLoS genetics, 2007-06, Vol.3 (6), p.e108 [Periódico revisado por pares]

United States: Public Library of Science

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8
Complex mutational patterns and size homoplasy at maize microsatellite loci
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Artigo
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Complex mutational patterns and size homoplasy at maize microsatellite loci

Lia, V. V ; Bracco, M ; Gottlieb, A. M ; Poggio, L ; Confalonieri, V. A

Theoretical and applied genetics, 2007-11, Vol.115 (7), p.981-991 [Periódico revisado por pares]

Heidelberg: Berlin/Heidelberg : Springer-Verlag

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9
A genome-wide association study of sporadic ALS in a homogenous Irish population
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Artigo
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A genome-wide association study of sporadic ALS in a homogenous Irish population

Cronin, Simon ; Berger, Stephen ; Ding, Jinhui ; Schymick, Jennifer C ; Washecka, Nicole ; Hernandez, Dena G. ; Greenway, Matthew J. ; Bradley, Daniel G. ; Traynor, Bryan J. ; Hardiman, Orla

Human molecular genetics, 2008-03, Vol.17 (5), p.768-774 [Periódico revisado por pares]

Oxford: Oxford University Press

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10
A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs): e1000072
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Artigo
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A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs): e1000072

Melzer, 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, Luigi

PLoS genetics, 2008-05, Vol.4 (5) [Periódico revisado por pares]

San Francisco: Public Library of Science

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