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Jordi Perez-Tur, Ph.D. - Publications

Affiliations: 
Molecular Genetics Instituto de Biomedicina de Valencia, València, Comunidad Valenciana, Spain 
Website:
http://ugm.ibv.csic.es/pers/jpt.html

58 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, et al. Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by subtypes. Proceedings of the National Academy of Sciences of the United States of America. 120: e2302720120. PMID 37643212 DOI: 10.1073/pnas.2302720120  0.577
2023 Luo J, Thomassen JQ, Bellenguez C, Grenier-Boley B, de Rojas I, Castillo A, Parveen K, Küçükali F, Nicolas A, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Jürgen D, et al. Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease. Jama Network Open. 6: e2313734. PMID 37195665 DOI: 10.1001/jamanetworkopen.2023.13734  0.493
2023 de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, et al. Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications. 14: 716. PMID 36759603 DOI: 10.1038/s41467-023-36192-x  0.533
2022 Vázquez-Costa JF, Borrego-Hernández D, Paradas C, Gómez-Caravaca MT, Rojas-Garcia R, Varona L, Povedano M, García-Sobrino T, Jericó Pascual I, Gutiérrez A, Riancho J, Turon-Sans J, Assialioui A, Pérez-Tur J, Sevilla T, et al. Characterizing SOD1 mutations in Spain. The impact of genotype, age, and sex in the natural history of the disease. European Journal of Neurology. PMID 36484631 DOI: 10.1111/ene.15661  0.309
2022 Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, et al. Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease. Jama Neurology. PMID 35639372 DOI: 10.1001/jamaneurol.2022.1166  0.604
2022 Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, et al. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics. PMID 35379992 DOI: 10.1038/s41588-022-01024-z  0.734
2021 de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, et al. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications. 12: 3417. PMID 34099642 DOI: 10.1038/s41467-021-22491-8  0.594
2018 Navarro-Sánchez L, Águeda-Gómez B, Aparicio S, Pérez-Tur J. Epigenetic Study in Parkinson's Disease: A Pilot Analysis of DNA Methylation in Candidate Genes in Brain. Cells. 7. PMID 30261625 DOI: 10.3390/Cells7100150  0.327
2018 Sanchez-Mut JV, Heyn H, Silva BA, Dixsaut L, Garcia-Esparcia P, Vidal E, Sayols S, Glauser L, Monteagudo-Sánchez A, Perez-Tur J, Ferrer I, Monk D, Schneider B, Esteller M, Gräff J. PM20D1 is a quantitative trait locus associated with Alzheimer's disease. Nature Medicine. PMID 29736028 DOI: 10.1038/S41591-018-0013-Y  0.471
2017 Cardona F, Pérez-Tur J. Editorial: Proteomic alterations by mutations involved in Parkinson's disease and related disorders. Current Protein & Peptide Science. 18: 654-655. PMID 28879817 DOI: 10.2174/138920371807170508185242  0.444
2017 Vázquez-Costa JF, Tembl JI, Fornés-Ferrer V, Cardona F, Morales-Caba L, Fortea G, Pérez-Tur J, Sevilla T. Genetic and constitutional factors are major contributors to substantia nigra hyperechogenicity. Scientific Reports. 7: 7119. PMID 28769074 DOI: 10.1038/S41598-017-07835-Z  0.305
2016 Cardona F, Pérez-Tur J. Other proteins involved in Parkinson's disease and related disorders. Current Protein & Peptide Science. PMID 26965686 DOI: 10.2174/1389203717666160311122152  0.399
2015 Dols-Icardo O, Iborra O, Valdivia J, Pastor P, Ruiz A, de Munain AL, Sánchez-Valle R, Álvarez V, Sánchez-Juan P, Lleó A, Fortea J, Blesa R, Cardona F, Baquero M, Alonso MD, et al. Assessing the role of TUBA4A gene in frontotemporal degeneration. Neurobiology of Aging. PMID 26675813 DOI: 10.1016/J.Neurobiolaging.2015.10.030  0.441
2015 Massó JFM, Ruiz-Martínez J, Paisán-Ruiz C, Gorostidi A, Bergareche A, de Munain AL, Alzualde A, Pérez-Tur J. Parkin and <i>LRRK2</i>/Dardarin Mutations in Early Onset Parkinson’s Disease in the Basque Country (Spain) Journal of Behavioral and Brain Science. 5: 101-108. DOI: 10.4236/JBBS.2015.53010  0.354
2014 Hu L, Diez-Fernandez C, Rüfenacht V, Hismi BÖ, Ünal Ö, Soyucen E, Çoker M, Bayraktar BT, Gunduz M, Kiykim E, Olgac A, Pérez-Tur J, Rubio V, Häberle J. Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: characterization of a founder mutation by use of recombinant CPS1 from insect cells expression. Molecular Genetics and Metabolism. 113: 267-73. PMID 25410056 DOI: 10.1016/J.Ymgme.2014.09.014  0.396
2012 Lorenzo-Betancor O, Samaranch L, Ezquerra M, Tolosa E, Lorenzo E, Irigoyen J, Gaig C, Pastor MA, Soto-Ortolaza AI, Ross OA, Rodríguez-Oroz MC, Valldeoriola F, Martí MJ, Luquin MR, Perez-Tur J, et al. LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation. Movement Disorders : Official Journal of the Movement Disorder Society. 27: 146-51. PMID 22038903 DOI: 10.1002/Mds.23968  0.493
2010 Mutez E, Larvor L, Leprêtre F, Mouroux V, Hamalek D, Kerckaert J, Pérez-Tur J, Waucquier N, Vanbesien-Mailliot C, Duflot A, Devos D, Defebvre L, Kreisler A, Frigard B, Destée A, et al. Étude transcriptomique de cellules mononucléées sanguines de patients parkinsoniens porteurs de la mutation G2019S de LRRK2 Revue Neurologique. 166: S35-S37. DOI: 10.1016/S0035-3787(10)70016-3  0.649
2008 Clarimón J, Guerreiro R, Lleó A, Guardia C, Blesa R, Gómez-Isla T, Boada M, Bullido M, Ferrer I, Martínez-Lage P, Masdeu J, Molina L, Molinuevo JL, Pastor P, Pérez-Tur J, et al. P3-213: Genetic screening in a large cohort of early-onset Alzheimer's disease patients from Spain: Novel mutations in the amyloid precursor protein and presenilines Alzheimers & Dementia. 4. DOI: 10.1016/J.Jalz.2008.05.1780  0.762
2005 Ros R, Gómez Garre P, Hirano M, Tai YF, Ampuero I, Vidal L, Rojo A, Fontan A, Vazquez A, Fanjul S, Hernandez J, Cantarero S, Hoenicka J, Jones A, Ahsan RL, ... ... Perez-Tur J, et al. Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1. Annals of Neurology. 57: 634-41. PMID 15852377 DOI: 10.1002/Ana.20449  0.33
2004 Morris HR, Steele JC, Crook R, Wavrant-De Vrièze F, Onstead-Cardinale L, Gwinn-Hardy K, Wood NW, Farrer M, Lees AJ, McGeer PL, Siddique T, Hardy J, Perez-Tur J. Genome-wide analysis of the parkinsonism-dementia complex of Guam. Archives of Neurology. 61: 1889-97. PMID 15596609 DOI: 10.1001/Archneur.61.12.1889  0.663
2003 Michelucci R, Poza JJ, Sofia V, de Feo MR, Binelli S, Bisulli F, Scudellaro E, Simionati B, Zimbello R, D'Orsi G, Passarelli D, Avoni P, Avanzini G, Tinuper P, Biondi R, ... ... Perez-Tur J, et al. Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families. Epilepsia. 44: 1289-97. PMID 14510822 DOI: 10.1046/J.1528-1157.2003.20003.X  0.384
2003 Baron M, Jimenez-Escrig A, Orensanz L, Simon J, Perez-Tur J. Apolipoprotein E Pittsburgh variant is not associated with the risk of late-onset Alzheimer's disease in a Spanish population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 120: 121-4. PMID 12815750 DOI: 10.1002/Ajmg.B.20028  0.467
2002 Hardy J, Gwinn-Hardy K, McGeer P, Morris H, Perez-Tur J, Steele J. Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000. Neurology. 59: 1121; author reply 1. PMID 12370488 DOI: 10.1212/wnl.59.7.1121  0.392
2002 Myllykangas L, Polvikoski T, Reunanen K, Wavrant-De Vrieze F, Ellis C, Hernandez D, Sulkava R, Kontula K, Verkkoniemi A, Notkola IL, Hardy J, Perez-Tur J, Haltia MJ, Tienari PJ. ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain. American Journal of Medical Genetics. 114: 288-91. PMID 11920850 DOI: 10.1002/Ajmg.10202  0.619
2002 Nobile C, Hinzmann B, Scannapieco P, Siebert R, Zimbello R, Perez-Tur J, Sarafidou T, Moschonas NK, French L, Deloukas P, Ciccodicola A, Gesk S, Poza JJ, Lo Nigro C, Seri M, et al. Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. Gene. 282: 87-94. PMID 11814680 DOI: 10.1016/S0378-1119(01)00846-0  0.379
2001 Morris HR, Khan MN, Janssen JC, Brown JM, Perez-Tur J, Baker M, Ozansoy M, Hardy J, Hutton M, Wood NW, Lees AJ, Revesz T, Lantos P, Rossor MN. The genetic and pathological classification of familial frontotemporal dementia. Archives of Neurology. 58: 1813-6. PMID 11708988 DOI: 10.1001/Archneur.58.11.1813  0.698
2001 Morris HR, Al-Sarraj S, Schwab C, Gwinn-Hardy K, Perez-Tur J, Wood NW, Hardy J, Lees AJ, McGeer PL, Daniel SE, Steele JC. A clinical and pathological study of motor neurone disease on Guam. Brain : a Journal of Neurology. 124: 2215-22. PMID 11673323 DOI: 10.1093/Brain/124.11.2215  0.564
2000 Myers A, Holmans P, Marshall H, Kwon J, Meyer D, Ramic D, Shears S, Booth J, DeVrieze FW, Crook R, Hamshere M, Abraham R, Tunstall N, Rice F, Carty S, ... ... Perez-Tur J, et al. Susceptibility locus for Alzheimer's disease on chromosome 10. Science (New York, N.Y.). 290: 2304-5. PMID 11125144 DOI: 10.1126/Science.290.5500.2304  0.717
2000 Lewis PA, Perez-Tur J, Golde TE, Hardy J. The presenilin 1 C92S mutation increases abeta 42 production. Biochemical and Biophysical Research Communications. 277: 261-3. PMID 11027672 DOI: 10.1006/Bbrc.2000.3646  0.622
2000 Baker M, Graff-Radford D, Wavrant DeVrièze F, Graff-Radford N, Petersen RC, Kokmen E, Boeve B, Myllykangas L, Polvikoski T, Sulkava R, Verkoniemmi A, Tienari P, Haltia M, Hardy J, Hutton M, ... Perez-Tur J, et al. No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease. Neuroscience Letters. 285: 147-9. PMID 10793248 DOI: 10.1016/S0304-3940(00)01057-0  0.702
2000 Tanii H, Ankarcrona M, Flood F, Nilsberth C, Mehta ND, Perez-Tur J, Winblad B, Benedikz E, Cowburn RF. Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis. Neuroscience. 95: 593-601. PMID 10658639 DOI: 10.1016/S0306-4522(99)00432-7  0.345
2000 Perez-Tur J, Myllykangas L, Sulkava R, Verkoniemi A, Polvikoski T, Kontula K, Haltia M, Hardy JA. Linkage disequilibrium as a tool for mapping Alzheimer's disease genes Neurobiology of Aging. 21: 104. DOI: 10.1016/S0197-4580(00)82267-8  0.441
2000 Myllykangas L, Polvikoski T, Sulkava R, Verkkoniemi A, Tienari P, Perez-Tur J, Haltia M. Cardiovascular risk factors and Alzheimer's disease: Genetic association studies in a population aged 85+ Neurobiology of Aging. 21: 175. DOI: 10.1016/S0197-4580(00)82126-0  0.396
2000 Graff-Radford NR, Adamson J, Willis FB, Epstein DE, LaShaune Lawson R, Parfitt FC, Perez-Tur J. APOE 34 and 44 genotypes are important risk factors for Alzheimer's disease in African Americans Neurobiology of Aging. 21: 158. DOI: 10.1016/S0197-4580(00)82051-5  0.407
2000 Holker EG, Fernan TJ, Perez-Tur J. APOE E4 is associated with rapid cognitive decline in Alzheimer's disease Neurobiology of Aging. 21: 156. DOI: 10.1016/S0197-4580(00)82040-0  0.379
1999 Prihar G, Verkkoniem A, Perez-Tur J, Crook R, Lincoln S, Houlden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M. Alzheimer disease PS-1 exon 9 deletion defined. Nature Medicine. 5: 1090. PMID 10502791 DOI: 10.1038/13383  0.757
1999 Kamboh MI, Aston CE, Perez-Tur J, Kokmen E, Ferrell RE, Hardy J, DeKosky ST. A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease. Neuroscience Letters. 263: 129-32. PMID 10213152 DOI: 10.1016/S0304-3940(99)00129-9  0.66
1999 Houlden H, Rizzu P, Stevens M, de Knijff P, van Duijn CM, van Swieten JC, Heutink P, Perez-Tur J, Thomas V, Baker M, Morris H, Rossor M, Jannsen JC, Petersen RC, Dodd P, et al. Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations. Neuroscience Letters. 260: 193-5. PMID 10076900 DOI: 10.1016/S0304-3940(98)00931-8  0.669
1999 Baker M, Litvan I, Houlden H, Adamson J, Dickson D, Perez-Tur J, Hardy J, Lynch T, Bigio E, Hutton M. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Human Molecular Genetics. 8: 711-5. PMID 10072441 DOI: 10.1093/Hmg/8.4.711  0.652
1999 Morris HR, Perez-Tur J, Janssen JC, Brown J, Lees AJ, Wood NW, Hardy J, Hutton M, Rossor MN. Mutation in the tau exon 10 splice site region in familial frontotemporal dementia. Annals of Neurology. 45: 270-1. PMID 9989634 DOI: 10.1002/1531-8249(199902)45:2<270::Aid-Ana22>3.0.Co;2-2  0.693
1999 Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I, Spurlock G, Norton N, Williams H, Williams N, Lovestone S, Perez-Tur J, Hutton M, Chartier-Harlin MC, Shears S, et al. A full genome scan for late onset Alzheimer's disease. Human Molecular Genetics. 8: 237-45. PMID 9931331 DOI: 10.1093/Hmg/8.2.237  0.772
1999 Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C, Newman S, MacElwee K, McCarthy P, Miller C, Waters C, Hardy J. A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Human Molecular Genetics. 8: 81-5. PMID 9887334 DOI: 10.1093/Hmg/8.1.81  0.664
1998 Hardy J, Duff K, Hardy KG, Perez-Tur J, Hutton M. Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nature Neuroscience. 1: 355-8. PMID 10196523 DOI: 10.1038/1565  0.755
1998 Pennypacker KR, Fuldner R, Xu R, Hernandez H, Dawbarn D, Mehta N, Perez-Tur J, Baker M, Hutton M. Cloning and characterization of the presenilin-2 gene promoter. Brain Research. Molecular Brain Research. 56: 57-65. PMID 9602061 DOI: 10.1016/S0169-328X(98)00028-X  0.574
1998 Crook R, Verkkoniemi A, Perez-Tur J, Mehta N, Baker M, Houlden H, Farrer M, Hutton M, Lincoln S, Hardy J, Gwinn K, Somer M, Paetau A, Kalimo H, Ylikoski R, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nature Medicine. 4: 452-5. PMID 9546792 DOI: 10.1038/Nm0498-452  0.784
1998 Farrer M, Wavrant-De Vrieze F, Crook R, Boles L, Perez-Tur J, Hardy J, Johnson WG, Steele J, Maraganore D, Gwinn K, Lynch T. Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Annals of Neurology. 43: 394-7. PMID 9506559 DOI: 10.1002/Ana.410430320  0.599
1998 Mehta ND, Refolo LM, Eckman C, Sanders S, Yager D, Perez-Tur J, Younkin S, Duff K, Hardy J, Hutton M. Increased Abeta42(43) from cell lines expressing presenilin 1 mutations. Annals of Neurology. 43: 256-8. PMID 9485068 DOI: 10.1002/Ana.410430217  0.763
1997 Eckman CB, Mehta ND, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo LM, Prada CM, Younkin SG, Hutton M, Hardy J. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Human Molecular Genetics. 6: 2087-9. PMID 9328472 DOI: 10.1093/Hmg/6.12.2087  0.712
1997 Crook R, Ellis R, Shanks M, Thal LJ, Perez-Tur J, Baker M, Hutton M, Haltia T, Hardy J, Galasko D. Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. Annals of Neurology. 42: 124-8. PMID 9225696 DOI: 10.1002/Ana.410420121  0.71
1996 Clark RF, Hutton M, Talbot C, Wragg M, Lendon C, Busfield F, Han SW, Perez-Tur J, Adams M, Fuldner R, Roberts G, Karran E, Hardy J, Goate A. The role of presenilin 1 in the genetics of Alzheimer's disease. Cold Spring Harbor Symposia On Quantitative Biology. 61: 551-8. PMID 9246481  0.622
1996 Perez-Tur J, Croxton R, Wright K, Phillips H, Zehr C, Crook R, Hutton M, Hardy J, Karran E, Roberts GW, Lancaster S, Haltia T. A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease. Neurodegeneration : a Journal For Neurodegenerative Disorders, Neuroprotection, and Neuroregeneration. 5: 207-12. PMID 8910898 DOI: 10.1006/Neur.1996.0028  0.737
1996 Prihar G, Fuldner RA, Perez-Tur J, Lincoln S, Duff K, Crook R, Hardy J, Philips CA, Venter C, Talbot C, Clark RF, Goate A, Li J, Potter H, Karran E, et al. Structure and alternative splicing of the presenilin-2 gene. Neuroreport. 7: 1680-4. PMID 8904781 DOI: 10.1097/00001756-199607080-00031  0.769
1996 Duff K, Eckman C, Zehr C, Yu X, Prada CM, Perez-tur J, Hutton M, Buee L, Harigaya Y, Yager D, Morgan D, Gordon MN, Holcomb L, Refolo L, Zenk B, et al. Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1. Nature. 383: 710-3. PMID 8878479 DOI: 10.1038/383710A0  0.712
1996 Hutton M, Busfield F, Wragg M, Crook R, Perez-Tur J, Clark RF, Prihar G, Talbot C, Phillips H, Wright K, Baker M, Lendon C, Duff K, Martinez A, Houlden H, et al. Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease. Neuroreport. 7: 801-5. PMID 8733749  0.759
1996 Hutton M, Perez-Tur J. 43 The molecular biology of the presenilin-1 gene Neurobiology of Aging. 17: S11-S12. DOI: 10.1016/S0197-4580(96)80045-5  0.498
1996 Pérez-Tur J, Hutton M, Hardy J. 42 The structure and molecular biology of the presenilin 2 gene Neurobiology of Aging. 17: S11. DOI: 10.1016/S0197-4580(96)80044-3  0.604
1995 Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, Busfield F, Lendon C, Clark RF. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport. 7: 297-301. PMID 8742474  0.65
1995 Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K, Wragg M, Busfield F, Lendon C, Clark RF, Roques P, Fuldner RA, Johnston J, Cowburn R, Forsell C, et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport. 7: 297-301. DOI: 10.1097/00001756-199512000-00071  0.794
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