Jordi Perez-Tur
Jordi Perez-Tur
Research Scientist, Institut de Biomedicina de Valčncia-CSIC
Verified email at
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
Prevalence of Alzheimer’s disease in very elderly people: a prospective neuropathological study
T Polvikoski, R Sulkava, L Myllykangas, IL Notkola, L Niinistö, ...
Neurology 56 (12), 1690-1696, 2001
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
La genética y la enfermedad de Alzheimer
J Pérez Tur
Rev. neurol.(Ed. impr.), 161-169, 2000
Pronounced Impact of Th1/E47Cs Mutation Compared With −491 at Mutation on Neural APOE Gene Expression and Risk of Developing Alzheimer's Disease
JC Lambert, C Berr, F Pasquier, A Delacourte, B Frigard, D Cottel, ...
Human Molecular Genetics 7 (9), 1511-1156, 1998
Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex.
H Bickeböller, D Campion, A Brice, P Amouyel, D Hannequin, ...
American journal of human genetics 60 (2), 439, 1997
Low frequency of α‐synuclein mutations in familial Parkinson's disease
M Farrer, F Wavrant‐De Vrieze, R Crook, L Boles, J Perez‐Tur, J Hardy, ...
Annals of neurology 43 (3), 394-397, 1998
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