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Pau Pastor
University of Navarra
123Publications
31H-index
3,176Citations
Publications 123
Newest
Published on Jan 1, 2018in Neurobiology of Aging 4.45
Cristina Razquin22
Estimated H-index: 22
(ISCIII: Instituto de Salud Carlos III),
Sara Ortega-Cubero16
Estimated H-index: 16
(University of Navarra)
+ 14 AuthorsOswaldo Lorenzo-Betancor18
Estimated H-index: 18
(University of Navarra)
Abstract The main genetic risk factors for progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) are located at chromosome 17q21.31. The identification of risk H1 subhaplotypes suggests that disease-specific variants can be identified by resequencing the 17q21.31 region (1.4 Mb) in carriers of risk H1 subhaplotypes. We hypothesized that PSP/CBD H1 subhaplotype carriers could have undergone a mutational event absent among unaffected carriers leading to the disease risk. We perf...
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Published on Jun 22, 2016in Journal of Alzheimer's Disease 3.17
Elkin O. Luis5
Estimated H-index: 5
(University of Navarra),
Alexandra Ortiz1
Estimated H-index: 1
(University of Navarra)
+ 19 AuthorsFederico D’Agata7
Estimated H-index: 7
(UNITO: University of Turin)
4 Citations Source Cite
Published on Dec 1, 2015in Human Mutation 5.36
Rita Cacace4
Estimated H-index: 4
(University of Antwerp),
Tobi Van den Bossche7
Estimated H-index: 7
(University of Antwerp)
+ 39 AuthorsPau Pastor31
Estimated H-index: 31
(University of Navarra)
Rare variants in the phospholipase D3 gene (PLD3) were associated with increased risk for late-onset Alzheimer disease (LOAD). We identified a missense mutation in PLD3 in whole-genome sequence data of a patient with autopsy confirmed Alzheimer disease (AD) and onset age of 50 years. Subsequently, we sequenced PLD3 in a Belgian early-onset Alzheimer disease (EOAD) patient (N = 261) and control (N = 319) cohort, as well as in European EOAD patients (N = 946) and control individuals (N = 1,209) as...
15 Citations Source Cite
Published on Oct 15, 2015in Human Molecular Genetics 4.90
Hyun Hor7
Estimated H-index: 7
,
Ludmila Francescatto8
Estimated H-index: 8
(Duke University)
+ 22 AuthorsOliver Drechsel3
Estimated H-index: 3
(UPF: Pompeu Fabra University)
36 Citations Source Cite
Published on Jul 1, 2015in Alzheimers & Dementia 12.76
Kristel Sleegers50
Estimated H-index: 50
(University of Antwerp),
Jan Verheijen4
Estimated H-index: 4
(University of Antwerp)
+ 12 AuthorsPau Pastor31
Estimated H-index: 31
(University of Navarra)
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Published on Jul 1, 2015in Alzheimers & Dementia 12.76
Alfredo Ramirez33
Estimated H-index: 33
(University of Bonn),
Meliha Karsak4
Estimated H-index: 4
(UHH: University of Hamburg)
+ 10 AuthorsWolfgang Maier101
Estimated H-index: 101
(University of Bonn)
1 Citations Source Cite
Published on Jun 1, 2015in Alzheimers & Dementia 12.76
Lesley Jones37
Estimated H-index: 37
(Cardiff University),
Jean-Charles Lambert51
Estimated H-index: 51
(French Institute of Health and Medical Research)
+ 183 AuthorsCéline Bellenguez30
Estimated H-index: 30
(French Institute of Health and Medical Research)
Abstract Background Late-onset Alzheimer's disease (AD) is heritable with 20 genes showing genome-wide association in the International Genomics of Alzheimer's Project (IGAP). To identify the biology underlying the disease, we extended these genetic data in a pathway analysis. Methods The ALIGATOR and GSEA algorithms were used in the IGAP data to identify associated functional pathways and correlated gene expression networks in human brain. Results ALIGATOR identified an excess of curated biolog...
88 Citations Source Cite
Published on May 1, 2015in Neurobiology of Aging 4.45
Elise Cuyvers8
Estimated H-index: 8
(University of Antwerp),
Julie van der Zee33
Estimated H-index: 33
(University of Antwerp)
+ 40 AuthorsCaroline Graff36
Estimated H-index: 36
(KI: Karolinska Institutet)
Abstract Meta-analysis of existing genome-wide association studies on Alzheimer's disease (AD) showed subgenome-wide association of an intronic variant in the sequestosome 1 ( SQSTM1 ) gene with AD. We performed targeted resequencing of SQSTM1 in Flanders-Belgian AD patients selected to be enriched for a genetic background ( n = 435) and geographically matched nonaffected individuals ( n = 872) to investigate the role of both common and rare SQSTM1 variants. Results were extended to the European...
12 Citations Source Cite
Published on Apr 1, 2015in Neurologia 1.94
Sara Ortega-Cubero16
Estimated H-index: 16
(University of Navarra),
I. Pagola4
Estimated H-index: 4
(University of Navarra)
+ 9 AuthorsE. Martínez-Vila25
Estimated H-index: 25
(University of Navarra)
Resumen Introduccion Las prionopatias representan hasta el 62% de los casos de demencia rapidamente progresiva (DRP) en los que se alcanza un diagnostico definitivo. La variabilidad de los sintomas y signos iniciales y las diferencias en su evolucion dificultan el diagnostico precoz. Metodos Estudio retrospectivo en el que se incluye a pacientes con prionopatia probable o definitiva, que acudieron a la consulta de Neurologia de nuestro centro durante el periodo 1999-2012. Se describen las caract...
4 Citations Source Cite
Published on Apr 1, 2015in Neurologia 1.94
Sara Ortega-Cubero16
Estimated H-index: 16
(University of Navarra),
I. Pagola4
Estimated H-index: 4
(University of Navarra)
+ 9 AuthorsE. Martínez-Vila25
Estimated H-index: 25
(University of Navarra)
Introduction: Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult. Methods: Patients with diagnosis of definite or probable prionopathy during the period 1999—2012 at our hospital were retrospectively reviewed. The clinical features and the results of the complementary tests (14-3-3 ...
4 Citations Source Cite
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