| Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease C Paisán-Ruı́z, S Jain, EW Evans, WP Gilks, J Simón, M Van Der Brug, ... Neuron 44 (4), 595-600, 2004 | 2947 | 2004 |
| New insights into the genetic etiology of Alzheimer’s disease and related dementias C Bellenguez, F Küçükali, IE Jansen, L Kleineidam, S Moreno-Grau, ... Nature genetics 54 (4), 412-436, 2022 | 2360 | 2022 |
| Increased amyloid-β42 (43) in brains of mice expressing mutant presenilin 1 K Duff, C Eckman, C Zehr, X Yu, CM Prada, J Perez-Tur, M Hutton, L Buee, ... Nature 383 (6602), 710-713, 1996 | 2090 | 1996 |
| Association of an extended haplotype in the tau gene with progressive supranuclear palsy M Baker, I Litvan, H Houlden, J Adamson, D Dickson, J Perez-Tur, ... Human molecular genetics 8 (4), 711-715, 1999 | 973 | 1999 |
| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 610 | 2021 |
| Apolipoprotein E, ɛ4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13. 2 chromosomal region MC Chartier-Hariln, M Parfitt, S Legrain, J Pérez-Tur, T Brousseau, ... Human molecular genetics 3 (4), 569-574, 1994 | 553 | 1994 |
| Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau J Hardy, K Duff, KG Hardy, J Perez-Tur, M Hutton Nature neuroscience 1 (5), 355-358, 1998 | 539 | 1998 |
| Susceptibility locus for Alzheimer's disease on chromosome 10 A Myers, P Holmans, H Marshall, J Kwon, D Meyer, D Ramic, S Shears, ... Science 290 (5500), 2304-2305, 2000 | 497 | 2000 |
| A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1 R Crook, A Verkkoniemi, J Perez-Tur, N Mehta, M Baker, H Houlden, ... Nature medicine 4 (4), 452-455, 1998 | 487 | 1998 |
| A full genome scan for late onset Alzheimer's disease P Kehoe, FWD Vrieze, R Crook, WS Wu, P Holmans, I Fenton, G Spurlock, ... Human Molecular Genetics 8 (2), 237-245, 1999 | 461 | 1999 |
| A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of Aβ42 (43) CB Eckman, ND Mehta, R Crook, J Perez-tur, G Prihar, E Pfeiffer, ... Human molecular genetics 6 (12), 2087-2089, 1997 | 399 | 1997 |
| Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy JM Morante-Redolat, A Gorostidi-Pagola, S Piquer-Sirerol, A Sáenz, ... Human molecular genetics 11 (9), 1119-1128, 2002 | 393 | 2002 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 368 | 2022 |
| A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene J Perez-Tur, S Froelich, G Prihar, R Crook, M Baker, K Duff, M Wragg, ... Neuroreport 7 (1), 297-301, 1995 | 367 | 1995 |
| A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor M Farrer, K Gwinn-Hardy, M Muenter, FW DeVrieze, R Crook, J Perez-Tur, ... Human molecular genetics 8 (1), 81-85, 1999 | 358 | 1999 |
| Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores I De Rojas, S Moreno-Grau, N Tesi, B Grenier-Boley, V Andrade, ... Nature communications 12 (1), 3417, 2021 | 328 | 2021 |
| Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP RJ Guerreiro, M Baquero, R Blesa, M Boada, JM Brás, MJ Bullido, ... Neurobiology of aging 31 (5), 725-731, 2010 | 265 | 2010 |
| The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families RF Clark, M Hutton, M Fuldner, S Froelich, E Karran, C Talbot, R Crook, ... Nature genetics 11 (2), 219-222, 1995 | 235 | 1995 |
| Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease M Hutton, F Busfield, M Wragg, R Crook, J Perez-Tur, RF Clark, G Prihar, ... Neuroreport 7 (3), 801-805, 1996 | 228 | 1996 |
| Prevalence of Alzheimer’s disease in very elderly people: a prospective neuropathological study T Polvikoski, R Sulkava, L Myllykangas, IL Notkola, L Niinisto, ... Neurology 56 (12), 1690-1696, 2001 | 221 | 2001 |
Adolfo Lopez de MunainJefe del Servicio de Neurología - Hospital Universitario Donostia / Director Área de NeurocienciasVerified email at osakidetza.eus
