Pau Pastor - University of Navarra

Pau Pastor

University of Navarra

Spain

Pau Pastor - University of Navarra

Pau Pastor

Introduction

Primary Affiliation: University of Navarra - Spain

Publications

64Publications

2100Reads

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1157PubMed Central Citations

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.

Authors:
Valentina Escott-Price Céline Bellenguez Li-San Wang Seung-Hoan Choi Denise Harold Lesley Jones Peter Holmans Amy Gerrish Alexey Vedernikov Alexander Richards Anita L DeStefano Jean-Charles Lambert Carla A Ibrahim-Verbaas Adam C Naj Rebecca Sims Gyungah Jun Joshua C Bis Gary W Beecham Benjamin Grenier-Boley Giancarlo Russo Tricia A Thornton-Wells Nicola Denning Albert V Smith Vincent Chouraki Charlene Thomas M Arfan Ikram Diana Zelenika Badri N Vardarajan Yoichiro Kamatani Chiao-Feng Lin Helena Schmidt Brian Kunkle Melanie L Dunstan Maria Vronskaya Andrew D Johnson Agustin Ruiz Marie-Thérèse Bihoreau Christiane Reitz Florence Pasquier Paul Hollingworth Olivier Hanon Annette L Fitzpatrick Joseph D Buxbaum Dominique Campion Paul K Crane Clinton Baldwin Tim Becker Vilmundur Gudnason Carlos Cruchaga David Craig Najaf Amin Claudine Berr Oscar L Lopez Philip L De Jager Vincent Deramecourt Janet A Johnston Denis Evans Simon Lovestone Luc Letenneur Isabel Hernández David C Rubinsztein Gudny Eiriksdottir Kristel Sleegers Alison M Goate Nathalie Fiévet Matthew J Huentelman Michael Gill Kristelle Brown M Ilyas Kamboh Lina Keller Pascale Barberger-Gateau Bernadette McGuinness Eric B Larson Amanda J Myers Carole Dufouil Stephen Todd David Wallon Seth Love Ekaterina Rogaeva John Gallacher Peter St George-Hyslop Jordi Clarimon Alberto Lleo Anthony Bayer Debby W Tsuang Lei Yu Magda Tsolaki Paola Bossù Gianfranco Spalletta Petra Proitsi John Collinge Sandro Sorbi Florentino Sanchez Garcia Nick C Fox John Hardy Maria Candida Deniz Naranjo Paolo Bosco Robert Clarke Carol Brayne Daniela Galimberti Elio Scarpini Ubaldo Bonuccelli Michelangelo Mancuso Gabriele Siciliano Susanne Moebus Patrizia Mecocci Maria Del Zompo Wolfgang Maier Harald Hampel Alberto Pilotto Ana Frank-García Francesco Panza Vincenzo Solfrizzi Paolo Caffarra Benedetta Nacmias William Perry Manuel Mayhaus Lars Lannfelt Hakon Hakonarson Sabrina Pichler Minerva M Carrasquillo Martin Ingelsson Duane Beekly Victoria Alvarez Fanggeng Zou Otto Valladares Steven G Younkin Eliecer Coto Kara L Hamilton-Nelson Wei Gu Cristina Razquin Pau Pastor Ignacio Mateo Michael J Owen Kelley M Faber Palmi V Jonsson Onofre Combarros Michael C O'Donovan Laura B Cantwell Hilkka Soininen Deborah Blacker Simon Mead Thomas H Mosley David A Bennett Tamara B Harris Laura Fratiglioni Clive Holmes Renee F A G de Bruijn Peter Passmore Thomas J Montine Karolien Bettens Jerome I Rotter Alexis Brice Kevin Morgan Tatiana M Foroud Walter A Kukull Didier Hannequin John F Powell Michael A Nalls Karen Ritchie Kathryn L Lunetta John S K Kauwe Eric Boerwinkle Matthias Riemenschneider Mercè Boada Mikko Hiltunen Eden R Martin Reinhold Schmidt Dan Rujescu Jean-François Dartigues Richard Mayeux Christophe Tzourio Albert Hofman Markus M Nöthen Caroline Graff Bruce M Psaty Jonathan L Haines Mark Lathrop Margaret A Pericak-Vance Lenore J Launer Christine Van Broeckhoven Lindsay A Farrer Cornelia M van Duijn Alfredo Ramirez Sudha Seshadri Gerard D Schellenberg Philippe Amouyel Julie Williams

PLoS One 2014 12;9(6):e94661. Epub 2014 Jun 12.

Institute of Psychological Medicine and Clinical Neurosciences, MRC Centre for Neuropsychiatric Genetics & Genomics, Cardiff University, Cardiff, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0094661PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4055488PMC
October 2015
158 Reads
25 Citations
3.234 Impact Factor

Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor.

PLoS One 2014 6;9(11):e111989. Epub 2014 Nov 6.

Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America; Mayo Graduate School, Neurobiology of Disease, Mayo Clinic, Jacksonville, Florida, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0111989PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222957PMC
July 2015
47 Reads
4 Citations
3.234 Impact Factor

No evidence of association between common European mitochondrial DNA variants in Alzheimer, Parkinson, and migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2015 Jan 28;168B(1):54-65. Epub 2014 Oct 28.

Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica, CIBERER, IDIS, Santiago de Compostela, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32276DOI Listing
January 2015
34 Reads
14 Citations
3.420 Impact Factor

Frontobasal gray matter loss is associated with the TREM2 p.R47H variant.

Neurobiol Aging 2014 Dec 17;35(12):2681-2690. Epub 2014 Jun 17.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain; Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253600PMC
December 2014
31 Reads
6 Citations
5.013 Impact Factor

An association study between Heme oxygenase-1 genetic variants and Parkinson's disease.

Front Cell Neurosci 2014 24;8:298. Epub 2014 Sep 24.

Department of Biochemistry, Molecular Biology, and Genetic, University of Extremadura Cáceres, Spain ; Redes Temáticas de Investigación Cooperativa en Salud (RIRAAF/RETICS), Instituto de Salud Carlos III Madrid, Spain.

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http://dx.doi.org/10.3389/fncel.2014.00298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173932PMC
October 2014
34 Reads
9 Citations
4.290 Impact Factor

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

Acta Neuropathol 2014 Sep 5;128(3):397-410. Epub 2014 Jun 5.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1007/s00401-014-1298-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131163PMC
September 2014
84 Reads
14 Citations
10.762 Impact Factor

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors:
Raffaele Ferrari Dena G Hernandez Michael A Nalls Jonathan D Rohrer Adaikalavan Ramasamy John B J Kwok Carol Dobson-Stone William S Brooks Peter R Schofield Glenda M Halliday John R Hodges Olivier Piguet Lauren Bartley Elizabeth Thompson Eric Haan Isabel Hernández Agustín Ruiz Mercè Boada Barbara Borroni Alessandro Padovani Carlos Cruchaga Nigel J Cairns Luisa Benussi Giuliano Binetti Roberta Ghidoni Gianluigi Forloni Daniela Galimberti Chiara Fenoglio Maria Serpente Elio Scarpini Jordi Clarimón Alberto Lleó Rafael Blesa Maria Landqvist Waldö Karin Nilsson Christer Nilsson Ian R A Mackenzie Ging-Yuek R Hsiung David M A Mann Jordan Grafman Christopher M Morris Johannes Attems Timothy D Griffiths Ian G McKeith Alan J Thomas P Pietrini Edward D Huey Eric M Wassermann Atik Baborie Evelyn Jaros Michael C Tierney Pau Pastor Cristina Razquin Sara Ortega-Cubero Elena Alonso Robert Perneczky Janine Diehl-Schmid Panagiotis Alexopoulos Alexander Kurz Innocenzo Rainero Elisa Rubino Lorenzo Pinessi Ekaterina Rogaeva Peter St George-Hyslop Giacomina Rossi Fabrizio Tagliavini Giorgio Giaccone James B Rowe Johannes C M Schlachetzki James Uphill John Collinge Simon Mead Adrian Danek Vivianna M Van Deerlin Murray Grossman John Q Trojanowski Julie van der Zee William Deschamps Tim Van Langenhove Marc Cruts Christine Van Broeckhoven Stefano F Cappa Isabelle Le Ber Didier Hannequin Véronique Golfier Martine Vercelletto Alexis Brice Benedetta Nacmias Sandro Sorbi Silvia Bagnoli Irene Piaceri Jørgen E Nielsen Lena E Hjermind Matthias Riemenschneider Manuel Mayhaus Bernd Ibach Gilles Gasparoni Sabrina Pichler Wei Gu Martin N Rossor Nick C Fox Jason D Warren Maria Grazia Spillantini Huw R Morris Patrizia Rizzu Peter Heutink Julie S Snowden Sara Rollinson Anna Richardson Alexander Gerhard Amalia C Bruni Raffaele Maletta Francesca Frangipane Chiara Cupidi Livia Bernardi Maria Anfossi Maura Gallo Maria Elena Conidi Nicoletta Smirne Rosa Rademakers Matt Baker Dennis W Dickson Neill R Graff-Radford Ronald C Petersen David Knopman Keith A Josephs Bradley F Boeve Joseph E Parisi William W Seeley Bruce L Miller Anna M Karydas Howard Rosen John C van Swieten Elise G P Dopper Harro Seelaar Yolande A L Pijnenburg Philip Scheltens Giancarlo Logroscino Rosa Capozzo Valeria Novelli Annibale A Puca Massimo Franceschi Alfredo Postiglione Graziella Milan Paolo Sorrentino Mark Kristiansen Huei-Hsin Chiang Caroline Graff Florence Pasquier Adeline Rollin Vincent Deramecourt Florence Lebert Dimitrios Kapogiannis Luigi Ferrucci Stuart Pickering-Brown Andrew B Singleton John Hardy Parastoo Momeni

Lancet Neurol 2014 Jul;13(7):686-99

Laboratory of Neurogenetics, Department of Internal Medicine, Texas Tech University Health Science Center, Lubbock, Texas, USA.

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http://dx.doi.org/10.1016/S1474-4422(14)70065-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112126PMC
July 2014
135 Reads
49 Citations
21.900 Impact Factor

No association of the SLC1A2 rs3794087 allele with risk for essential tremor in the Spanish population.

Pharmacogenet Genomics 2013 Nov;23(11):587-90

Departments of aBiochemistry and Molecular Biology bPharmacology, University of Extremadura, Cáceres cDepartment of Pharmacology, University of Extremadura, Badajoz dSection of Neurology, University Hospital of Sureste eDepartment of Medicine-Neurology, Hospital "Príncipe de Asturias", University of Alcalá fService of Neurology, Hospital "Doce de Octubre", Department of Medicine, University Complutense gCenter for Biomedical Investigation, Net of Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid hNeurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, Universidad de Navarra iDepartment of Neurology, University Clinic of Navarra, University of Navarra School of Medicine, Pamplona jDepartment of Neurology, University Hospital of Salamanca, Salamanca, Spain.

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http://dx.doi.org/10.1097/FPC.0b013e328364db9dDOI Listing
November 2013
43 Reads
5 Citations
3.481 Impact Factor

Orthostatic myoclonus: an underrecognized cause of unsteadiness?

Parkinsonism Relat Disord 2013 Nov 2;19(11):1013-7. Epub 2013 Aug 2.

Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona, Spain; CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III, Spain.

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http://dx.doi.org/10.1016/j.parkreldis.2013.07.004DOI Listing
November 2013
29 Reads
6 Citations
3.972 Impact Factor

Selective brain gray matter atrophy associated with APOE ε4 and MAPT H1 in subjects with mild cognitive impairment.

J Alzheimers Dis 2013 ;33(4):1009-19

Neuroimaging Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.3233/JAD-2012-121174DOI Listing
October 2013
3 Reads
8 Citations
4.151 Impact Factor

Comment: double mutants of frontotemporal dementia genes--Simple co-occurrence?

Authors:
Pau Pastor

Neurology 2013 Oct 11;81(15):1338. Epub 2013 Sep 11.

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http://dx.doi.org/10.1212/WNL.0b013e3182a825a1DOI Listing
October 2013
3 Reads
8.290 Impact Factor

TREM2 is associated with the risk of Alzheimer's disease in Spanish population.

Neurobiol Aging 2013 Jun 5;34(6):1711.e15-7. Epub 2013 Feb 5.

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3596468PMC
June 2013
4 Reads
51 Citations
5.013 Impact Factor

Mutational screening of PARKIN identified a 3' UTR variant (rs62637702) associated with Parkinson's disease.

J Mol Neurosci 2013 Jun 30;50(2):264-9. Epub 2012 Dec 30.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-012-9942-yDOI Listing
June 2013
12 Reads
3 Citations
2.343 Impact Factor

Age at onset in LRRK2-associated PD is modified by SNCA variants.

J Mol Neurosci 2012 Sep 6;48(1):245-7. Epub 2012 Jun 6.

Parkinson's Disease and Movement Disorders Unit, Neurology Service-Hospital Clínic, Institut de Neurociències and Department of Medicine, Universitat de Barcelona-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1007/s12031-012-9820-7DOI Listing
September 2012
38 Reads
7 Citations
2.343 Impact Factor

Genetic heterogeneity in Parkinson disease: the meaning of GWAS and replication studies.

Authors:
Pau Pastor

Neurology 2012 Aug 11;79(7):619-20. Epub 2012 Jul 11.

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http://dx.doi.org/10.1212/WNL.0b013e318264e3d2DOI Listing
August 2012
2 Reads
8.290 Impact Factor

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Alzheimers Res Ther 2012 Aug 20;4(4):34. Epub 2012 Aug 20.

Department of Psychiatry, Washington University School of Medicine, 660 South Euclid Avenue B8134, St, Louis, MO 63110, USA.

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http://dx.doi.org/10.1186/alzrt137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3506948PMC
August 2012
47 Reads
28 Citations
3.500 Impact Factor

A search for SNCA 3' UTR variants identified SNP rs356165 as a determinant of disease risk and onset age in Parkinson's disease.

J Mol Neurosci 2012 Jul 11;47(3):425-30. Epub 2011 Nov 11.

Genética Molecular-Laboratorio de Medicina, Hospital Universitario Central de Asturias, 33006, Oviedo, Spain.

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http://dx.doi.org/10.1007/s12031-011-9669-1DOI Listing
July 2012
11 Reads
12 Citations
2.343 Impact Factor

LINGO1 and risk for essential tremor: results of a meta-analysis of rs9652490 and rs11856808.

J Neurol Sci 2012 Jun 17;317(1-2):52-7. Epub 2012 Mar 17.

Section of Neurology, Hospital Universitario del Sureste, Arganda del Rey, Madrid, Spain.

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http://dx.doi.org/10.1016/j.jns.2012.02.030DOI Listing
June 2012
14 Reads
13 Citations
2.474 Impact Factor

LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.

Mov Disord 2012 Jan 28;27(1):146-51. Epub 2011 Oct 28.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1002/mds.23968DOI Listing
January 2012
31 Reads
3 Citations
5.680 Impact Factor

Nigrostriatal dopaminergic function in subjects with isolated action tremor.

Parkinsonism Relat Disord 2012 Jan 14;18(1):49-53. Epub 2011 Sep 14.

Services of Neurology, Son Espases University Hospital, Mallorca, Spain.

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http://dx.doi.org/10.1016/j.parkreldis.2011.08.025DOI Listing
January 2012
28 Reads
5 Citations
3.972 Impact Factor

Genetic variation in APOE cluster region and Alzheimer's disease risk.

Neurobiol Aging 2011 Nov 14;32(11):2107.e7-17. Epub 2011 Jul 14.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.05.023DOI Listing
November 2011
38 Reads
8 Citations
5.013 Impact Factor

The effect of MAPT H1 and APOE ε4 on transition from mild cognitive impairment to dementia.

J Alzheimers Dis 2010 ;22(4):1065-71

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.3233/JAD-2010-101011DOI Listing
May 2011
40 Reads
8 Citations
4.151 Impact Factor

LINGO1 gene analysis in Parkinson's disease phenotypes.

Mov Disord 2011 Mar 4;26(4):722-7. Epub 2011 Jan 4.

Division of Neurosciences, Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1002/mds.23452DOI Listing
March 2011
27 Reads
4 Citations
5.680 Impact Factor

Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.

Neurobiol Aging 2011 Mar 29;32(3):547.e11-6. Epub 2009 Oct 29.

Institut Clínic de Neurociències, Hospital Clínic de Barcelona, Department of Medicine, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2009.09.011DOI Listing
March 2011
58 Reads
10 Citations
5.013 Impact Factor

Gamma-aminobutyric acid (GABA) receptor rho (GABRR) polymorphisms and risk for essential tremor.

J Neurol 2011 Feb 5;258(2):203-11. Epub 2010 Sep 5.

Department of Biochemistry and Molecular Biology, University of Extremadura, Badajoz, Spain.

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http://dx.doi.org/10.1007/s00415-010-5708-zDOI Listing
February 2011
15 Reads
8 Citations
3.380 Impact Factor

Isolated dysphagia due to paraneoplastic myasthenic syndrome with anti-P/Q-type voltage-gated calcium-channel and anti-acetylcholine receptor antibodies.

Neuromuscul Disord 2011 Feb 5;21(2):126-8. Epub 2010 Nov 5.

Department of Neurology, Clínica Universidad de Navarra, Avda. Pio XII 36, 31008 Pamplona, Spain.

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http://dx.doi.org/10.1016/j.nmd.2010.10.003DOI Listing
February 2011
14 Reads
2 Citations
2.640 Impact Factor

Analysis of the Micro-RNA-133 and PITX3 genes in Parkinson's disease.

Am J Med Genet B Neuropsychiatr Genet 2010 Sep;153B(6):1234-9

Genética Molecular, Hospital Universitario Central de Asturias, Oviedo, Spain.

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http://dx.doi.org/10.1002/ajmg.b.31086DOI Listing
September 2010
24 Reads
13 Citations
3.420 Impact Factor

PINK1-linked parkinsonism is associated with Lewy body pathology.

Brain 2010 Apr 30;133(Pt 4):1128-42. Epub 2010 Mar 30.

Neurogenetics Laboratory, Division of Neurosciences, Centre for Applied Medical Research (CIMA), University of Navarra, Pío XII 55, 31008-Pamplona, Spain.

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http://dx.doi.org/10.1093/brain/awq051DOI Listing
April 2010
79 Reads
53 Citations
9.200 Impact Factor

Cortical atrophy and language network reorganization associated with a novel progranulin mutation.

Cereb Cortex 2009 Aug 19;19(8):1751-60. Epub 2008 Nov 19.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, 31008 Spain.

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http://dx.doi.org/10.1093/cercor/bhn202DOI Listing
August 2009
21 Reads
16 Citations
8.665 Impact Factor

Familial neurodegeneration in progressive supranuclear palsy: more frequent than expected?

Authors:
Pau Pastor

Neurology 2009 Jul 6;73(2):86-7. Epub 2009 May 6.

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http://dx.doi.org/10.1212/WNL.0b013e3181aa2a71DOI Listing
July 2009
3 Reads
1 Citation
8.290 Impact Factor

5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration.

Neurobiol Dis 2009 Feb 1;33(2):164-70. Epub 2008 Nov 1.

Neurogenetics Laboratory, Division of Neurosciences, Center for Applied Medical Research, University of Navarra, Pamplona, Spain.

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http://dx.doi.org/10.1016/j.nbd.2008.09.027DOI Listing
February 2009
7 Reads
10 Citations
5.080 Impact Factor

Amygdalar and hippocampal MRI volumetric reductions in Parkinson's disease with dementia.

Mov Disord 2005 May;20(5):540-4

Department of Psychiatry and Clinical Psychobiology, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.20371DOI Listing
May 2005
26 Reads
25 Citations
5.680 Impact Factor

Structural brain changes in Parkinson disease with dementia: a voxel-based morphometry study.

Arch Neurol 2005 Feb;62(2):281-5

Department de Psiquiatria i Psicobiologia, Universitat de Barcelona, Spain.

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http://dx.doi.org/10.1001/archneur.62.2.281DOI Listing
February 2005
8 Reads
38 Citations
7.420 Impact Factor

Novel haplotypes in 17q21 are associated with progressive supranuclear palsy.

Ann Neurol 2004 Aug;56(2):249-58

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1002/ana.20178DOI Listing
August 2004
5 Reads
11 Citations
9.980 Impact Factor

No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.

Neurosci Lett 2004 Jun;363(2):99-101

Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.neulet.2004.03.070DOI Listing
June 2004
4 Reads
1 Citation
2.060 Impact Factor

Molecular genetics of Alzheimer's disease.

Curr Psychiatry Rep 2004 Apr;6(2):125-33

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA.

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April 2004
5 Reads
17 Citations
3.240 Impact Factor

Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy.

Ann Neurol 2004 Mar;55(3):448-9

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http://dx.doi.org/10.1002/ana.20025DOI Listing
March 2004
3 Reads
1 Citation
9.980 Impact Factor

A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.

Arch Neurol 2003 Aug;60(8):1149-51

Genetics Service, Department of Ciencias Fisiologicas I, University of Barcelona, Institut de Investigacions Biomédiques Agustí Pi i Sunyer, Hospital Clínic, Villaroel 170, 08036 Barcelona, Spain.

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http://dx.doi.org/10.1001/archneur.60.8.1149DOI Listing
August 2003
7 Reads
7 Citations
7.420 Impact Factor

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

Ann Neurol 2003 Aug;54(2):163-9

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/ana.10636DOI Listing
August 2003
37 Reads
55 Citations
9.980 Impact Factor

Dementia in Parkinson disease: a proton magnetic resonance spectroscopy study.

Arch Neurol 2002 Sep;59(9):1415-20

Department of Psychiatry and Clinical Psychobiology, ICMSN, Hospital Clinic, Casanova 143, 08036 Barcelona, Spain.

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http://dx.doi.org/10.1001/archneur.59.9.1415DOI Listing
September 2002
5 Reads
6 Citations
7.420 Impact Factor

Progressive supranuclear palsy: clinical and genetic aspects.

Curr Opin Neurol 2002 Aug;15(4):429-37

Parkinson's disease and Movement Disorders Unit, Neurology Service, Clinical Institute for Nervous System Disorders, University Hospital Clinic, August Pi i Sunyer Institute for Biomedical Investigation, Villaroel 170, 08036 Barcelona, Spain.

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August 2002
4 Reads
1 Citation
5.310 Impact Factor

Further extension of the H1 haplotype associated with progressive supranuclear palsy.

Mov Disord 2002 May;17(3):550-6

Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós. Hospital Clínic, IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.1002/mds.10076DOI Listing
May 2002
10 Reads
8 Citations
5.680 Impact Factor