Anna Antonell

Anna Antonell

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APP-derived peptides reflect neurodegeneration in frontotemporal dementia.

Ann Clin Transl Neurol 2019 Dec 2. Epub 2019 Dec 2.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/acn3.50948DOI Listing
December 2019

Multicenter Alzheimer's and Parkinson's disease immune biomarker verification study.

Alzheimers Dement 2019 Oct 17. Epub 2019 Oct 17.

Department of Neurodegenerative Diseases & Geropsychiatry/Neurology, University of Bonn Medical Center, Bonn, Germany; German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jalz.2019.07.018DOI Listing
October 2019

Synaptic, axonal damage and inflammatory cerebrospinal fluid biomarkers in neurodegenerative dementias.

Alzheimers Dement 2019 Oct 24. Epub 2019 Oct 24.

Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Fundació Clínic per a la Recerca Biomèdica, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jalz.2019.09.001DOI Listing
October 2019

Regional patterns of 18F-florbetaben uptake in presenilin 1 mutation carriers.

Neurobiol Aging 2019 09 17;81:1-8. Epub 2019 May 17.

Alzheimer's disease and other cognitive disorders, Neurology Department, Hospital Clínic, Institut d'investigacions biomèdiques August Pi I Sunyer, University of Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.04.010DOI Listing
September 2019

Novel P397S MAPT variant associated with late onset and slow progressive frontotemporal dementia.

Ann Clin Transl Neurol 2019 Aug 17;6(8):1559-1565. Epub 2019 Jul 17.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/acn3.50844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6689677PMC
August 2019

Frontotemporal Dementia Caused by the P301L Mutation in the MAPT Gene: Clinicopathological Features of 13 Cases from the Same Geographical Origin in Barcelona, Spain.

Dement Geriatr Cogn Disord 2017 22;44(3-4):213-221. Epub 2017 Sep 22.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1159/000480077DOI Listing
October 2018

The hippocampal longitudinal axis-relevance for underlying tau and TDP-43 pathology.

Neurobiol Aging 2018 10 1;70:1-9. Epub 2018 Jun 1.

Norwich Medical School, University of East Anglia, Norwich, UK; Norfolk and Suffolk NHS Foundation Trust, Norwich, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.035DOI Listing
October 2018

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.

Authors:
Cyril Pottier Xiaolai Zhou Ralph B Perkerson Matt Baker Gregory D Jenkins Daniel J Serie Roberta Ghidoni Luisa Benussi Giuliano Binetti Adolfo López de Munain Miren Zulaica Fermin Moreno Isabelle Le Ber Florence Pasquier Didier Hannequin Raquel Sánchez-Valle Anna Antonell Albert Lladó Tammee M Parsons NiCole A Finch Elizabeth C Finger Carol F Lippa Edward D Huey Manuela Neumann Peter Heutink Matthis Synofzik Carlo Wilke Robert A Rissman Jaroslaw Slawek Emilia Sitek Peter Johannsen Jørgen E Nielsen Yingxue Ren Marka van Blitterswijk Mariely DeJesus-Hernandez Elizabeth Christopher Melissa E Murray Kevin F Bieniek Bret M Evers Camilla Ferrari Sara Rollinson Anna Richardson Elio Scarpini Giorgio G Fumagalli Alessandro Padovani John Hardy Parastoo Momeni Raffaele Ferrari Francesca Frangipane Raffaele Maletta Maria Anfossi Maura Gallo Leonard Petrucelli EunRan Suh Oscar L Lopez Tsz H Wong Jeroen G J van Rooij Harro Seelaar Simon Mead Richard J Caselli Eric M Reiman Marwan Noel Sabbagh Mads Kjolby Anders Nykjaer Anna M Karydas Adam L Boxer Lea T Grinberg Jordan Grafman Salvatore Spina Adrian Oblak M-Marsel Mesulam Sandra Weintraub Changiz Geula John R Hodges Olivier Piguet William S Brooks David J Irwin John Q Trojanowski Edward B Lee Keith A Josephs Joseph E Parisi Nilüfer Ertekin-Taner David S Knopman Benedetta Nacmias Irene Piaceri Silvia Bagnoli Sandro Sorbi Marla Gearing Jonathan Glass Thomas G Beach Sandra E Black Mario Masellis Ekaterina Rogaeva Jean-Paul Vonsattel Lawrence S Honig Julia Kofler Amalia C Bruni Julie Snowden David Mann Stuart Pickering-Brown Janine Diehl-Schmid Juliane Winkelmann Daniela Galimberti Caroline Graff Linn Öijerstedt Claire Troakes Safa Al-Sarraj Carlos Cruchaga Nigel J Cairns Jonathan D Rohrer Glenda M Halliday John B Kwok John C van Swieten Charles L White Bernardino Ghetti Jill R Murell Ian R A Mackenzie Ging-Yuek R Hsiung Barbara Borroni Giacomina Rossi Fabrizio Tagliavini Zbigniew K Wszolek Ronald C Petersen Eileen H Bigio Murray Grossman Vivianna M Van Deerlin William W Seeley Bruce L Miller Neill R Graff-Radford Bradley F Boeve Dennis W Dickson Joanna M Biernacka Rosa Rademakers

Lancet Neurol 2018 06 30;17(6):548-558. Epub 2018 Apr 30.

Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(18)30126-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237181PMC
June 2018

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk.

J Alzheimers Dis 2017 ;56(3):1065-1074

Dermatology Department, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-161113DOI Listing
February 2018

CSF microRNA Profiling in Alzheimer's Disease: a Screening and Validation Study.

Mol Neurobiol 2017 11 13;54(9):6647-6654. Epub 2016 Oct 13.

Alzheimer's disease and other cognitive disorders unit, Neurology Service, Hospital Clínic i Universitari-, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Villarroel 170, Barcelona, 08036, Spain.

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http://dx.doi.org/10.1007/s12035-016-0106-xDOI Listing
November 2017

Plasma miR-34a-5p and miR-545-3p as Early Biomarkers of Alzheimer's Disease: Potential and Limitations.

Mol Neurobiol 2017 09 8;54(7):5550-5562. Epub 2016 Sep 8.

Institut d'Investigacions Biomèdiques de Barcelona (IIBB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain.

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http://dx.doi.org/10.1007/s12035-016-0088-8DOI Listing
September 2017

White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease.

J Alzheimers Dis 2016 ;51(3):827-35

Alzheimer's Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-150899DOI Listing
December 2016

Altered Blood Gene Expression of Tumor-Related Genes (PRKCB, BECN1, and CDKN2A) in Alzheimer's Disease.

Mol Neurobiol 2016 11 28;53(9):5902-5911. Epub 2015 Oct 28.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1007/s12035-015-9483-9DOI Listing
November 2016

Preservation of cell-survival mechanisms by the presenilin-1 K239N mutation may cause its milder clinical phenotype.

Neurobiol Aging 2016 10 15;46:169-79. Epub 2016 Jul 15.

Institut d'Investigacions Biomèdiques de Barcelona (IIBB), CSIC, Barcelona, Spain; Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2016.07.002DOI Listing
October 2016

CSF YKL-40 and pTau181 are related to different cerebral morphometric patterns in early AD.

Neurobiol Aging 2016 Feb 2;38:47-55. Epub 2015 Nov 2.

Clinical and Neuroimaging Departments, Barcelonaβeta Brain Research Center, Pasqual Maragall Foundation, Barcelona, Spain; Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.022DOI Listing
February 2016

Diagnostic accuracy of behavioral variant frontotemporal dementia consortium criteria (FTDC) in a clinicopathological cohort.

Neuropathol Appl Neurobiol 2015 Dec 2;41(7):882-92. Epub 2015 May 2.

Alzheimer's Disease and Other Cognitive Disorders Unit, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.1111/nan.12194DOI Listing
December 2015

CSF biomarkers for the differential diagnosis of Alzheimer's disease: A large-scale international multicenter study.

Alzheimers Dement 2015 Nov 21;11(11):1306-15. Epub 2015 Mar 21.

AXA Research Fund & UPMC Chair, Paris, France; Sorbonne Universités, Université Pierre et Marie Curie, Paris 06, Institut de la Mémoire et de la Maladie d'Alzheimer & Institut du Cerveau et de la Moelle épinière (ICM), Département de Neurologie, Hôpital de la Pitié-Salpétrière, Paris, France.

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http://dx.doi.org/10.1016/j.jalz.2014.12.006DOI Listing
November 2015

Cerebrospinal fluid level of YKL-40 protein in preclinical and prodromal Alzheimer's disease.

J Alzheimers Dis 2014 ;42(3):901-8

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, IDIBAPS, Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-140624DOI Listing
August 2015

Evolving brain structural changes in PSEN1 mutation carriers.

Neurobiol Aging 2015 Mar 24;36(3):1261-70. Epub 2014 Dec 24.

Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Alzheimer's Disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.022DOI Listing
March 2015

Usefulness of biomarkers in the diagnosis and prognosis of early-onset cognitive impairment.

J Alzheimers Dis 2014 ;40(4):919-27

Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Department, Hospital Clinic, Barcelona, Spain Institut d'Investigació Biomédica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://www.medra.org/servlet/aliasResolver?alias=iospress&am
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http://dx.doi.org/10.3233/JAD-132195DOI Listing
January 2015

White matter changes in preclinical Alzheimer's disease: a magnetic resonance imaging-diffusion tensor imaging study on cognitively normal older people with positive amyloid β protein 42 levels.

Neurobiol Aging 2014 Dec 6;35(12):2671-2680. Epub 2014 Jun 6.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.05.027DOI Listing
December 2014

Identification of blood serum micro-RNAs associated with idiopathic and LRRK2 Parkinson's disease.

J Neurosci Res 2014 Aug 20;92(8):1071-7. Epub 2014 Mar 20.

Laboratory of Neurodegenerative Disorders, Department of Neurology, Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS)-Centro de Investigación sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1002/jnr.23377DOI Listing
August 2014

Large APP locus duplication in a sporadic case of cerebral haemorrhage.

Neurogenetics 2014 May 2;15(2):145-9. Epub 2014 Apr 2.

Alzheimer's disease and other Cognitive Disorders Unit, Hospital Clínic-IDIBAPS, C/Villarroel, 170, 08036, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007/s10048-014-0395
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http://link.springer.com/10.1007/s10048-014-0395-z
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http://dx.doi.org/10.1007/s10048-014-0395-zDOI Listing
May 2014

Reply: To PMID 23794434.

Ann Neurol 2014 Mar 7;75(3):460-1. Epub 2014 Mar 7.

Neurobiology Unit, Instituto de Investigaciones Biomedicas de Barcelona, Consejo Superior de Investigaciones Cientificas, CSIC; Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, CIBERNED.

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http://dx.doi.org/10.1002/ana.24106DOI Listing
March 2014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions.

Acta Neuropathol 2014 Mar 19;127(3):407-18. Epub 2014 Jan 19.

Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1007/s00401-013-1239-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003885PMC
March 2014

Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease.

Ann Neurol 2013 Nov 4;74(5):655-68. Epub 2013 Sep 4.

Neurobiology Unit, Instituto de Investigaciones Biomedicas de Barcelona, Consejo Superior de Investigaciones Cientificas, CSIC, Barcelona, Spain; Centro de Investigacion Biomedica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain.

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http://dx.doi.org/10.1002/ana.23955DOI Listing
November 2013

A preliminary study of the whole-genome expression profile of sporadic and monogenic early-onset Alzheimer's disease.

Neurobiol Aging 2013 Jul 28;34(7):1772-8. Epub 2013 Jan 28.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neurobiolaging.2012.12.026DOI Listing
July 2013

Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort.

J Alzheimers Dis 2012 ;31(3):581-91

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-2012-112120DOI Listing
May 2013

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats.

Authors:
Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Sebastiaan Engelborghs Stéphanie Philtjens Mathieu Vandenbulcke Kristel Sleegers Anne Sieben Veerle Bäumer Githa Maes Ellen Corsmit Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira José Pimentel Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Caroline Graff Huei-Hsin Chiang Marie Westerlund Raquel Sanchez-Valle Albert Llado Ellen Gelpi Isabel Santana Maria Rosário Almeida Beatriz Santiago Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Radoslav Matej Eva Parobkova Gabor G Kovacs Thomas Ströbel Stayko Sarafov Ivailo Tournev Albena Jordanova Adrian Danek Thomas Arzberger Gian Maria Fabrizi Silvia Testi Eric Salmon Patrick Santens Jean-Jacques Martin Patrick Cras Rik Vandenberghe Peter Paul De Deyn Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Jessie Theuns Stéphanie Philtjens Kristel Sleegers Veerle Bäumer Githa Maes Ellen Corsmit Marc Cruts Christine Van Broeckhoven Julie van der Zee Ilse Gijselinck Lubina Dillen Tim Van Langenhove Stéphanie Philtjens Jessie Theuns Kristel Sleegers Veerle Bäumer Githa Maes Marc Cruts Christine Van Broeckhoven Sebastiaan Engelborghs Peter P De Deyn Patrick Cras Sebastiaan Engelborghs Peter P De Deyn Mathieu Vandenbulcke Mathieu Vandenbulcke Barbara Borroni Alessandro Padovani Silvana Archetti Robert Perneczky Janine Diehl-Schmid Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Matthis Synofzik Walter Maetzler Jennifer Müller Vom Hagen Ludger Schöls Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Alexandre de Mendonça Gabriel Miltenberger-Miltenyi Sónia Pereira Clara Firmo José Pimentel Raquel Sanchez-Valle Albert Llado Anna Antonell Jose Molinuevo Ellen Gelpi Caroline Graff Huei-Hsin Chiang Marie Westerlund Caroline Graff Anne Kinhult Ståhlbom Håkan Thonberg Inger Nennesmo Anne Börjesson-Hanson Benedetta Nacmias Silvia Bagnoli Sandro Sorbi Valentina Bessi Irene Piaceri Isabel Santana Beatriz Santiago Isabel Santana Maria Helena Ribeiro Maria Rosário Almeida Catarina Oliveira João Massano Carolina Garret Paula Pires Giovanni Frisoni Orazio Zanetti Cristian Bonvicini Stayko Sarafov Ivailo Tournev Albena Jordanova Ivailo Tournev Gabor G Kovacs Thomas Ströbel Michael T Heneka Frank Jessen Alfredo Ramirez Delia Kurzwelly Carmen Sachtleben Wolfgang Mairer Frank Jessen Radoslav Matej Eva Parobkova Adrian Danel Thomas Arzberger Gian Maria Fabrizi Silvia Testi Sergio Ferrari Tiziana Cavallaro Eric Salmon Patrick Santens Patrick Cras

Hum Mutat 2013 Feb 4;34(2):363-73. Epub 2013 Jan 4.

Department of Molecular Genetics, VIB, Antwerp, Belgium.

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http://dx.doi.org/10.1002/humu.22244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3638346PMC
February 2013

PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.

J Alzheimers Dis 2012 ;30(3):605-16

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-2012-111949DOI Listing
October 2012

Breakpoint sequence analysis of an AβPP locus duplication associated with autosomal dominant Alzheimer's disease and severe cerebral amyloid angiopathy.

J Alzheimers Dis 2012 ;28(2):303-8

Alzheimer's Disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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http://dx.doi.org/10.3233/JAD-2011-110911DOI Listing
May 2012

[A new approach to the Alzheimer's disease diagnosis with biomarkers: description of the AD-CSF-Index].

Rev Neurol 2012 May;54(9):513-22

Unidad de Alzheimer y otros trastornos cognitivos, Hospital Clínic, Barcelona, España.

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May 2012

Cellular crosstalk between TNF-α, NADPH oxidase, PKCβ2, and C2GNT in human leukocytes.

Cell Signal 2012 Apr 13;24(4):873-8. Epub 2011 Dec 13.

Institute of Biomedical and Clinical Science, Peninsula College of Medicine and Dentistry, Universities of Exeter & Plymouth, UK.

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http://dx.doi.org/10.1016/j.cellsig.2011.12.003DOI Listing
April 2012

Applying the new research diagnostic criteria: MRI findings and neuropsychological correlations of prodromal AD.

Int J Geriatr Psychiatry 2012 Feb 7;27(2):127-34. Epub 2011 Mar 7.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.

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http://doi.wiley.com/10.1002/gps.2696
Publisher Site
http://dx.doi.org/10.1002/gps.2696DOI Listing
February 2012

Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations.

Neurodegener Dis 2011 5;8(4):202-7. Epub 2011 Jan 5.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Barcelona, Spain.

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http://dx.doi.org/10.1159/000322229DOI Listing
October 2011

Association between cerebrospinal fluid tau and brain atrophy is not related to clinical severity in the Alzheimer's disease continuum.

Psychiatry Res 2011 Jun 4;192(3):140-6. Epub 2011 May 4.

Alzheimer's disease and other Cognitive Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.pscychresns.2010.12.001DOI Listing
June 2011

A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease.

Neurosci Lett 2011 May 9;496(1):40-2. Epub 2011 Apr 9.

Genetic Counselling Program for Familial Dementia, Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Department, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, 08036 Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neulet.2011.03.084DOI Listing
May 2011

Different profiles of Alzheimer's disease cerebrospinal fluid biomarkers in controls and subjects with subjective memory complaints.

J Neural Transm (Vienna) 2011 Feb 16;118(2):259-62. Epub 2010 Dec 16.

Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic, Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), C/Villarroel, 170, 08036, Barcelona, Spain.

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http://dx.doi.org/10.1007/s00702-010-0534-0DOI Listing
February 2011

Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.

Hum Genet 2010 Jul 17;128(1):27-37. Epub 2010 Apr 17.

Unitat de Genètica, Universitat Pompeu Fabra, y CIBER de Enfermedades Raras, Parc de Recerca Biomèdica de Barcelona, C/Dr Aiguader, 88, 08003, Barcelona, Spain.

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http://dx.doi.org/10.1007/s00439-010-0817-4DOI Listing
July 2010

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.

Am J Hum Genet 2006 Apr 31;78(4):533-42. Epub 2006 Jan 31.

Unitat de Genètica, Department de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Dr. Aiguader 80, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1086/501073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1424678PMC
April 2006

Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23.

Genome Res 2005 Sep;15(9):1179-88

Unitat de Genètica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1101/gr.3944605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1199532PMC
September 2005