Jordi Perez-Tur

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Adolfo Lopez de MunainJefe del Servicio de Neurología - Hospital Universitario Donostia / Director Área de NeurocienciasAdresse e-mail validée de osakidetza.eus
Coro Paisán RuizAssociate Professor, Icahn School of Medicine at Mount SinaiAdresse e-mail validée de mssm.edu
Katrina GwinnMedical Reviewer, FDAAdresse e-mail validée de fda.hhs.gov
Javier Simón-SánchezHertie Institute for Clinical Brain Research (HIH)Adresse e-mail validée de dzne.de
karen duffcolumbia universityAdresse e-mail validée de columbia.edu
Simon LovestoneJanssen and University of OxfordAdresse e-mail validée de psych.ox.ac.uk
Luc BueeUniversité de LilleAdresse e-mail validée de univ-lille.fr
Matt FarrerUniversity of FloridaAdresse e-mail validée de can.ubc.ca
Andrew SingletonNational Institute on AgingAdresse e-mail validée de mail.nih.gov
Steven G. YounkinProfessor of Neuroscience, Mayo ClinicAdresse e-mail validée de mayo.edu
Huw R MorrisUCL Queen Square Institute of NeurologyAdresse e-mail validée de ucl.ac.uk
Dennis W. DicksonMayo ClinicAdresse e-mail validée de mayo.edu
Claudine BerrinsermAdresse e-mail validée de inserm.fr
Rohan de SilvaProfessor of Molecular Neuroscience, UCL Queen Square Institute of NeurologyAdresse e-mail validée de ucl.ac.uk
Jose V. Sanchez-MutNeuroscience Institute of Alicante, CSIC-UMHAdresse e-mail validée de umh.es
Nicholas MoschonasProfessor Emeritus, Medical Molecular Genetics, Medical School, UPatras & Affiliated ScientistAdresse e-mail validée de med.upatras.gr
Demetrius MaraganoreTulane University School of MedicineAdresse e-mail validée de tulane.edu
Pat McGeerProfessor Emeritus, University of British ColumbiaAdresse e-mail validée de mcgeer.com
Pau PastorAssociate ProfessorAdresse e-mail validée de unav.es
David Otaegui (orcid.org/0000-0002-6...Biogipuzkoa Health Research Institute. Neuroimmunology GroupAdresse e-mail validée de bio-gipuzkoa.eus

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Jordi Perez-Tur

Research Scientist, Institut de Biomedicina de València-CSIC

Adresse e-mail validée de ibv.csic.es - Page d'accueil

Genetics Genomics Neurodegeneration


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	2827	2004
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	2083	1996
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	1338	2022
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	949	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	804	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	529	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	520	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	492	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	468	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	451	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	392	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	387	2002
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	363	1999
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	359	1995
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	283	2022
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	256	2010
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	225	1996
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	223	2021
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	220	1995
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	217	2001

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