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Genetics

D-Index
63
Citations
21911
World Ranking
2847
National Ranking
43

Overview

Jordi Pérez-Tur is affiliated with the Spanish National Research Council in Spain. Their research predominantly focuses on fields such as Medicine and Biochemistry, Genetics and Molecular Biology. Within these fields, their work spans subfields including Neurology, Genetics, Molecular Biology, Infectious Diseases, and Physiology.

The scientist's research covers a variety of main topics including:

  • Alzheimer's disease research and treatments
  • Parkinson's Disease Mechanisms and Treatments
  • Genetic Associations and Epidemiology
  • SARS-CoV-2 and COVID-19 Research
  • Amyotrophic Lateral Sclerosis Research
  • Neurogenetic and Muscular Disorders Research
  • Bioinformatics and Genomic Networks

Jordi Pérez-Tur has contributed to numerous publications, with frequent venues including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Alzheimer s & Dementia
  • Nature
  • Nature Genetics
  • Neurology Genetics

Recent papers authored by Pérez-Tur include:

  • Mapping the human genetic architecture of COVID-19, 2021, Nature
  • A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection, 2020, Cell
  • Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children, 2022, Science
  • Epigenome-wide association study of COVID-19 severity with respiratory failure, 2021, EBioMedicine
  • Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency, 2023, Nature

The scientist collaborates frequently with other researchers, including:

  • Itziar de Rojas
  • María J. Bullido
  • Pau Pástor
  • Victoria Álvarez
  • Merçé Boada

Best Publications

  • Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease

    Coro Paisán-Ruı́z;Shushant Jain;E.Whitney Evans;William P. Gilks

  • Increased amyloid-β42(43) in brains of mice expressing mutant presenilin 1

    Karen Duff;Karen Duff;Chris Eckman;Cindy Zehr;Cindy Zehr;Xin Yu

  • Association of an extended haplotype in the tau gene with progressive supranuclear palsy.

    Matt Baker;Irene Litvan;Henry Houlden;Jennifer Adamson

  • Apolipoprotein E, epsilon 4 allele as a major risk factor for sporadic early and late-onset forms of Alzheimer's disease: analysis of the 19q13.2 chromosomal region.

    Chartier-Harlin Mc;Parfitt M;Parfitt M;Legrain S;Pérez-Tur J

  • Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau.

    John Hardy;Karen Duff;Katrina Gwinn Hardy;Jordi Perez-Tur

  • Susceptibility Locus for Alzheimer's Disease on Chromosome 10

    Amanda Myers;Peter Holmans;Helen Marshall;Jennifer Kwon

  • The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

    Robert Clark;Michael Hutton;Rebecca Fuldner;Sue Froelich

  • A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

    Richard Crook;Auli Verkkoniemi;Jordi Perez-Tur;Nitin Mehta

  • A full genome scan for late onset Alzheimer's disease

    Patrick Kehoe;Fabienne Wavrant-De Vrieze;Richard Crook;William S. Wu

  • Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

    José M. Morante-Redolat;Ana Gorostidi-Pagola;Salomé Piquer-Sirerol;Amets Sáenz

  • 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

  • A Chromosome 4P Haplotype Segregating with Parkinson's Disease and Postural Tremor

    Matt Farrer;Katrina Gwinn-Hardy;Manfred Muenter;Fabienne Wavrant DeVrieze

  • A New Pathogenic Mutation in the APP Gene (I716V) Increases the Relative Proportion of Aβ42(43)

    Christopher B. Eckman;Nitin D. Mehta;Nitin D. Mehta;Richard Crook;Richard Crook;Jordi Perez-tur;Jordi Perez-tur

  • Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Itziar de Rojas;Itziar de Rojas;Sonia Moreno-Grau;Sonia Moreno-Grau;Niccolo Tesi;Benjamin Grenier-Boley

  • Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

    Rita Joao Guerreiro;Miquel Baquero;Rafael Blesa;Mercè Boada

  • Prevalence of Alzheimer’s disease in very elderly people A prospective neuropathological study

    T Polvikoski;R Sulkava;L Myllykangas;IL Notkola

  • Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease

    Hutton M;Busfield F;Wragg M;Crook R

  • Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation

    Berta Luzón-Toro;Elena Rubio de la Torre;Asunción Delgado;Jordi Pérez-Tur

  • Pronounced Impact of Th1/E47Cs Mutation Compared With −491 at Mutation on Neural APOE Gene Expression and Risk of Developing Alzheimer's Disease

    Jean-Charles Lambert;Claudine Berr;Florence Pasquier;André Delacourte

  • Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex

    H Bickeböller;D Campion;A Brice;P Amouyel

Frequent Co-Authors

John Hardy
John Hardy University College London
Mike Hutton
Mike Hutton Eli Lilly (United States)
Alison Goate
Alison Goate Icahn School of Medicine at Mount Sinai
Pau Pastor
Pau Pastor University of Navarra
Matti Haltia
Matti Haltia University of Helsinki
Peter Holmans
Peter Holmans Cardiff University
André Delacourte
André Delacourte University of Lille
Alberto Lleó
Alberto Lleó Hospital de la Santa Creu i Sant Pau

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