Publications by authors named "Raquel Sanchez-Valle"

100Publications

Disease-related cortical thinning in presymptomatic granulin mutation carriers.

Neuroimage Clin 2020 Dec 29;29:102540. Epub 2020 Dec 29.

Alzheimer's disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clinic, Institut d'Investigacions Biomèdiques August Pi I Sunyer, Barcelona, Spain; Departament de Biomedicina, Institute of Neuroscience, University of Barcelona, Institute of Biomedical Research August Pi i Sunyer (IDIBAPS), Biomedical Research Networking Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Spain. Electronic address:

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December 2020

Presentations and mechanisms of CNS disorders related to COVID-19.

Neurol Neuroimmunol Neuroinflamm 2021 01 11;8(1). Epub 2020 Dec 11.

From the Infectious Diseases Department (M.B.), Hospital Clínic de Barcelona, Catalonia; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) (M.B., Y.C., R.S.-V.), Barcelona; Department of Medicine (M.B., Y.C., R.S.-V.), Universitat de Barcelona; Neurology Department (Y.C., R.S.-V.), Hospital Clínic de Barcelona; and Institut de Neurociències (Y.C., R.S.-V.), Maria de Maeztu Excellence Center, Universitat de Barcelona, Catalonia, Spain.

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January 2021

Errorless Learning Therapy in Semantic Variant of Primary Progressive Aphasia.

J Alzheimers Dis 2021 ;79(1):415-422

Alzheimer's disease and other cognitive disorders Unit, Neurology Service, Hospital Clinic, Barcelona, Spain.

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January 2021

, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.

Authors:
Beatrice Costa Claudia Manzoni Manuel Bernal-Quiros Demis A Kia Miquel Aguilar Ignacio Alvarez Victoria Alvarez Ole Andreassen Maria Anfossi Silvia Bagnoli Luisa Benussi Livia Bernardi Giuliano Binetti Daniel Blackburn Mercè Boada Barbara Borroni Lucy Bowns Geir Bråthen Amalia C Bruni Huei-Hsin Chiang Jordi Clarimon Shuna Colville Maria E Conidi Tom E Cope Carlos Cruchaga Chiara Cupidi Maria Elena Di Battista Janine Diehl-Schmid Monica Diez-Fairen Oriol Dols-Icardo Elisabetta Durante Dušan Flisar Francesca Frangipane Daniela Galimberti Maura Gallo Maurizio Gallucci Roberta Ghidoni Caroline Graff Jordan H Grafman Murray Grossman John Hardy Isabel Hernández Guy J T Holloway Edward D Huey Ignacio Illán-Gala Anna Karydas Behzad Khoshnood Milica G Kramberger Mark Kristiansen Patrick A Lewis Alberto Lleó Gaganjit K Madhan Raffaele Maletta Aleš Maver Manuel Menendez-Gonzalez Graziella Milan Bruce Miller Merel O Mol Parastoo Momeni Sonia Moreno-Grau Chris M Morris Benedetta Nacmias Christer Nilsson Valeria Novelli Linn Öijerstedt Alessandro Padovani Suvankar Pal Yasmin Panchbhaya Pau Pastor Borut Peterlin Irene Piaceri Stuart Pickering-Brown Yolande A L Pijnenburg Annibale A Puca Innocenzo Rainero Antonella Rendina Anna M T Richardson Ekaterina Rogaeva Boris Rogelj Sara Rollinson Giacomina Rossi Carola Rossmeier James B Rowe Elisa Rubino Agustín Ruiz Raquel Sanchez-Valle Sigrid B Sando Alexander F Santillo Jennifer Saxon Elio Scarpini Maria Serpente Nicoletta Smirne Sandro Sorbi EunRan Suh Fabrizio Tagliavini Jennifer C Thompson John Q Trojanowski Vivianna M Van Deerlin Julie Van der Zee Christine Van Broeckhoven Jeroen van Rooij John C Van Swieten Arianna Veronesi Emilia Vitale Maria L Waldö Cathy Woodward Jennifer Yokoyama Valentina Escott-Price James M Polke Raffaele Ferrari

Neurology 2020 12 17;95(24):e3288-e3302. Epub 2020 Sep 17.

From the Institute of Neurology (B.C., D.A.K., J.H., P.A.L., R.F.), School of Pharmacy (C.M.), and UCL Movement Disorders Centre (J.H.), University College London; School of Pharmacy (C.M., P.A.L.), University of Reading, Whiteknights; Neurogenetics Laboratory (M.B.-Q., C.W., J.M.P.), National Hospital for Neurology and Neurosurgery, London, UK; Aptima Clinic (Miquel Aguilar), Terrassa; Memory Disorders Unit, Department of Neurology (I.A., M.D.-F., P.P.), University Hospital Mutua de Terrassa, Barcelona; Hospital Universitario Central de Asturias (V.A., M.M.-G.), Oviedo, Spain; NORMENT (O.A.), Institute of Clinical Medicine, University of Oslo, Norway; Regional Neurogenetic Centre (Maria Anfossi, Livia Bernardi, A.C.B., M.E.C., Chiara Cupidi, F.F., Maura Gallo, R.M., N.S.), ASPCZ, Lamezia Terme; Department of Neuroscience, Psychology, Drug Research and Child Health (S.B., B.N., I.P., S.S.), University of Florence; Molecular Markers Laboratory (Luisa Benussi, Giuliano Binetti, R.G.), IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy; Sheffield Institute for Translational Neuroscience (SITraN), Department of Neuroscience (D.B.), University of Sheffield, UK; Research Center and Memory Clinic (M.B., I.H., S.M.-G., Agustín Ruiz), Fundació ACE, Institut Català de Neurociències Aplicades, Universitat Internacional de Catalunya (UIC), Barcelona, Spain; Centre for Neurodegenerative Disorders (B.B., A.P.), Department of Clinical and Experimental Sciences, University of Brescia, Italy; Department of Clinical Neurosciences (Lucy Bowns, T.E.C., J.B.R.), Cambridge University, UK; Department of Neurology (Geir Bråthen, S.B.S.), University Hospital of Trondheim, Norway; Dept NVS, Division of Neurogeriatrics (H.-H.C., C.G., B.K., L.Ö.), Karolinska Institutet, Bioclinicum Solna, Sweden; Department of Neurology (J.C., O.D.-I., I.I.-G., A.L.), IIB Sant Pau, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Spain; Anne Rowling Regenerative Neurology Clinic (S.C., G.J.T.H., S.P.) and Centre for Clinical Brain Sciences (S.P.), University of Edinburgh, UK; NeuroGenomics and Informatics, Department of Psychiatry (Carlos Cruchaga), Washington University, St. Louis, MO; Cognitive Impairment Center (M.E.D.B., Maurizio Gallucci) and Immunohematology and Transfusional Medicine Service (E.D., A.V.), Local Health Authority n.2 Marca Trevigiana, Treviso, Italy; Department of Psychiatry and Psychotherapy (J.D.-S., C.R.), School of Medicine, Technical University of Munich, Germany; Department of Neurology (D.F., M.G.K.) and Clinical Institute of Medical Genetics (A.M., B.P.), University Medical Center Ljubljana, Slovenia; Dino Ferrari Center (D.G., Elio Scarpini, M.S.), University of Milan, Italy; Cognitive Neuroscience Lab, Think and Speak Lab (J.H.G.), Shirley Ryan Ability Lab, Chicago, IL; Department of Pathology and Laboratory Medicine (Murray Grossman, EunRan Suh, J.Q.T., V.M.V.D.), Center for Neurodegenerative Diseases, Perelman School of Medicine at the University of Pennsylvania, Philadelphia; UCL Dementia Research Institute (J.H.), London; Reta Lila Weston Institute (J.H.), UCL Queen Square Institute of Neurology, UK; Institute for Advanced Study (J.H.), The Hong Kong University of Science and Technology, China; Royal Edinburgh Hospital (G.J.T.H.), UK; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (E.D.H.), Columbia University, New York, NY; Department of Neurology, Memory and Aging Center (A.K., B.M., J.Y.), University of California, San Francisco; UCL Genomics (M.K., G.K.M., Y.P.), UCL Great Ormond Street Institute of Child Health, London, UK; Geriatric Center Frullone ASL Napoli 1 Centro (G.M.), Napoli, Italy; Department of Neurology (M.O.M., J.v.R., J.C.V.S.), Erasmus Medical Center, Rotterdam, the Netherlands; Rona Holdings (P.M.), Silicon Valley, CA; Newcastle Brain Tissue Resource, Institute of Neuroscience (C.M.M.), Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne, UK; Department of Neurology (C.N.), Skåne University Hospital, Malmö, Sweden; Fondazione Policlinico Universitario A. Gemelli IRCCS (V.N.), Rome, Italy; Division of Neuroscience & Experimental Psychology (S.P.-B., A.M.T.R., S.R., J.C.T.), University of Manchester, UK; Amsterdam University Medical Center (Y.A.L.P.), VU University Medical Center, the Netherlands; Cardiovascular Research Unit (A.A.P.), IRCCS Multimedica, Milan; Neurology I, Department of Neuroscience (I.R., Elisa Rubino), University of Torino; NeurOMICS laboratory (G.M., Antonella Rendina, E.V.), Institute of Biochemistry and Cell Biology (IBBC), CNR Napoli, Italy; Manchester Centre for Clinical Neurosciences (A.M.T.R., J.S., J.C.T.), Salford Royal NHS Trust, Manchester, UK; Tanz Centre for Research in Neurodegenerative Diseases (Ekaterina Rogaeva), University of Toronto, Canada; Department of Biotechnology (B.R.), Jožef Stefan Institute, Ljubljana, Slovenia; Division of Neurology V and Neuropathology (G.R., F.T.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Alzheimer's Disease and Other Cognitive Disorders Unit (R.S.-V.), Hospital Clínic of Barcelona, Spain; Clinical Memory Research Unit, Department of Clinical Sciences Malmö (C.N., A.F.S.), and Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund (M.L.W.), Lund University, Sweden; Neurodegenerative Brain Diseases Group (J.V.d.Z., C.V.B.), Center for Molecular Neurology, VIB, Antwerp, Belgium; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics (V.E.-P.), Division of Psychological Medicine and Clinical Neurosciences and Dementia Research Institute, Cardiff University, UK; Instituto de Investigación Sanitaria del Principado de Asturias (V.A.), Oviedo, Asturias; Fundació per la Recerca Biomèdica i Social Mútua Terrassa (I.A., M.D.-F., P.P.), Barcelona; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) (M.B., J.C., O.D.-I., I.H., I.I.-G., A.L., S.M.-G., Agustín Ruiz), Instituto de Salud Carlos III, Madrid, Spain; MRC Cognition and Brain Sciences Unit (Lucy Bowns, T.E.C., J.B.R.), Cambridge University, UK; Department of Neuromedicine and Movement Science (Geir Bråthen, S.B.S.), Norwegian University of Science and Technology, Trondheim, Norway; Unit for Hereditary Dementias (H.-H.C., C.G., B.K., L.Ö.), Theme Aging, Karolinska University Hospital, Solna, Sweden; Medical Faculty (D.F., M.G.K.), University of Ljubljana, Slovenia; Fondazione IRCCS Ca'Granda (D.G., Elio Scarpini, M.S.), Ospedale Policlinico, Milan, Italy; Penn Center for Frontotemporal Degeneration (Murray Grossman), Philadelphia, PA; Universidad de Oviedo (M.M.-G.), Asturias, Spain; IRCCS Fondazione Don Carlo Gnocchi (B.N., S.S.), Florence; Istituto di Medicina Genomica (V.N.), Università Cattolica del sacro Cuore, Rome, Italy; Amsterdam Neuroscience (Y.A.L.P.), the Netherlands; Department of Medicine and Surgery (A.A.P.), University of Salerno, Baronissi (SA), Italy; Faculty of Chemistry and Chemical Technology (B.R.), University of Ljubljana, Slovenia; Institud d'Investigacions Biomèdiques August Pi i Sunyer (R.S.-V.), Barcelona, Spain; Department of Biomedical Sciences (J.V.d.Z., C.V.B.), University of Antwerp, Belgium; and Department of Comparative Biomedical Sciences (P.A.L.), The Royal Veterinary College, London, UK.

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December 2020

Effects of IgLON5 Antibodies on Neuronal Cytoskeleton: A Link between Autoimmunity and Neurodegeneration.

Ann Neurol 2020 11 27;88(5):1023-1027. Epub 2020 Aug 27.

Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona, Barcelona, Spain.

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November 2020

Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants.

Neurobiol Aging 2020 09 18;93:e1-e9. Epub 2020 Feb 18.

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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September 2020

Autoantibodies against the prion protein in individuals with mutations.

Neurology 2020 10 25;95(14):e2028-e2037. Epub 2020 Feb 25.

From the Institute of Neuropathology (K.F., M.C., M.L., M.E., S. Hornemann, A.A.), Institute of Surgical Pathology (U.C.), and Department of Neurology, Neuroimmunology and MS Research (NIMS) (A.L.), University of Zurich, Switzerland; Department of Chemistry (G.M., T.K.), University of Cambridge, UK; CJD Foundation Israel (A.A.), Pardes Hanna; ICM (J.-P.B.), Salpêtrière Hospital, Sorbonne University, Paris, France; CIC bioGUNE and IKERBASQUE (J.C.), Basque Foundation for Science, Bizkaia, Spain; Sorbonne University (S. Haïk), ICM, Salpêtrière Hospital, Paris, France; Ophthalmology Division (E.L.), University of Graz, Austria; Broad Institute (E.V.M.), Cambridge, MA; Treviso Hospital (I.R.), Italy; Department of Pathology, Neurology, and National Prion Disease Pathology Surveillance Center (J.G.S.), Case Western Reserve University, Cleveland, OH; Alzheimer's Disease and Other Cognitive Disorders Unit (R.S.-V.), Hospital Clinic, IDIBAPS, University of Barcelona, Spain; and Department of Prion Diseases (D.Ž.), Slovak Medical University, Bratislava, Slovakia.

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October 2020

Diagnostic Accuracy of MRI Visual Rating Scales in the Diagnosis of Early Onset Cognitive Impairment.

J Alzheimers Dis 2020 ;73(4):1575-1583

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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January 2020

Contribution of CSF biomarkers to early-onset Alzheimer's disease and frontotemporal dementia neuroimaging signatures.

Hum Brain Mapp 2020 Jun 16;41(8):2004-2013. Epub 2020 Jan 16.

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

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June 2020

Telemedicine assessment of long-term cognitive and functional status in anti-leucine-rich, glioma-inactivated 1 encephalitis.

Neurol Neuroimmunol Neuroinflamm 2020 03 17;7(2). Epub 2019 Dec 17.

From the Neuroimmunology Program (N.S.-V., H.A., E.S., A.S., J.D., F.G.), Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS), Hospital Clinic; Neuroimmunology Unit (N.S.-V., D.E., Y.B., A.S.), Service of Neurology, Hospital Clinic, University of Barcelona; Alzheimer's Disease and Other Cognitive Disorders Unit (A.L., R.S.-V.), Service of Neurology, Hospital Clínic; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), University of Barcelona, Spain; Department of Neurology (J.D.), University of Pennsylvania, PA; and Institució Catalana de Recerca i Estudis Avançats (ICREA) (J.D.), Barcelona, Spain.

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March 2020

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Authors:
Katrina M Moore Jennifer Nicholas Murray Grossman Corey T McMillan David J Irwin Lauren Massimo Vivianna M Van Deerlin Jason D Warren Nick C Fox Martin N Rossor Simon Mead Martina Bocchetta Bradley F Boeve David S Knopman Neill R Graff-Radford Leah K Forsberg Rosa Rademakers Zbigniew K Wszolek John C van Swieten Lize C Jiskoot Lieke H Meeter Elise Gp Dopper Janne M Papma Julie S Snowden Jennifer Saxon Matthew Jones Stuart Pickering-Brown Isabelle Le Ber Agnès Camuzat Alexis Brice Paola Caroppo Roberta Ghidoni Michela Pievani Luisa Benussi Giuliano Binetti Bradford C Dickerson Diane Lucente Samantha Krivensky Caroline Graff Linn Öijerstedt Marie Fallström Håkan Thonberg Nupur Ghoshal John C Morris Barbara Borroni Alberto Benussi Alessandro Padovani Daniela Galimberti Elio Scarpini Giorgio G Fumagalli Ian R Mackenzie Ging-Yuek R Hsiung Pheth Sengdy Adam L Boxer Howie Rosen Joanne B Taylor Matthis Synofzik Carlo Wilke Patricia Sulzer John R Hodges Glenda Halliday John Kwok Raquel Sanchez-Valle Albert Lladó Sergi Borrego-Ecija Isabel Santana Maria Rosário Almeida Miguel Tábuas-Pereira Fermin Moreno Myriam Barandiaran Begoña Indakoetxea Johannes Levin Adrian Danek James B Rowe Thomas E Cope Markus Otto Sarah Anderl-Straub Alexandre de Mendonça Carolina Maruta Mario Masellis Sandra E Black Philippe Couratier Geraldine Lautrette Edward D Huey Sandro Sorbi Benedetta Nacmias Robert Laforce Marie-Pier L Tremblay Rik Vandenberghe Philip Van Damme Emily J Rogalski Sandra Weintraub Alexander Gerhard Chiadi U Onyike Simon Ducharme Sokratis G Papageorgiou Adeline Su Lyn Ng Amy Brodtmann Elizabeth Finger Rita Guerreiro Jose Bras Jonathan D Rohrer

Lancet Neurol 2020 02 3;19(2):145-156. Epub 2019 Dec 3.

Dementia Research Centre, Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK. Electronic address:

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February 2020

Plasma levels of soluble TREM2 and neurofilament light chain in TREM2 rare variant carriers.

Alzheimers Res Ther 2019 11 28;11(1):94. Epub 2019 Nov 28.

Department of Psychiatry and Neurochemistry, Institute of Neuroscience & Physiology, The Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

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November 2019

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

Alzheimers Dement 2020 02 6;16(2):262-272. Epub 2020 Jan 6.

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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February 2020

Early detection of subtle motor dysfunction in cognitively normal subjects with amyloid-β positivity.

Cortex 2019 12 30;121:117-124. Epub 2019 Aug 30.

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

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December 2019

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

Ann Clin Transl Neurol 2019 08 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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August 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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September 2019

CSF glial biomarkers YKL40 and sTREM2 are associated with longitudinal volume and diffusivity changes in cognitively unimpaired individuals.

Neuroimage Clin 2019 1;23:101801. Epub 2019 Apr 1.

Barcelonaβeta Brain Research Center (BBRC), 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; Neurology Department, Hospital Clínic i Provincial de Barcelona, Barcelona, Spain; Universitat Pompeu Fabra, Spain; CIBER Fragilidad y Envejecimiento Saludable (CIBERFES), Madrid, Spain. Electronic address:

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April 2020

Mechanisms of functional compensation, delineated by eigenvector centrality mapping, across the pathophysiological continuum of Alzheimer's disease.

Neuroimage Clin 2019 12;22:101777. Epub 2019 Mar 12.

Barcelonaβeta Brain Research Center (BBRC), 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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January 2020

CSF-ApoER2 fragments as a read-out of reelin signaling: Distinct patterns in sporadic and autosomal-dominant Alzheimer disease.

Clin Chim Acta 2019 Mar 12;490:6-11. Epub 2018 Dec 12.

Instituto de Neurociencias de Alicante, Universidad Miguel Hernández-CSIC, 03550 Sant Joan d'Alacant, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address:

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March 2019

Variably protease-sensitive prionopathy presenting within ALS/FTD spectrum.

Ann Clin Transl Neurol 2018 Oct 21;5(10):1297-1302. Epub 2018 Sep 21.

Neurological Tissue Bank of the Biobanc-Hospital Clínic Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona Spain.

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October 2018

Prevalence of amyloid-β pathology in distinct variants of primary progressive aphasia.

Ann Neurol 2018 11;84(5):729-740

Alzheimer center Amsterdam, Amsterdam UMC, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.

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November 2018

Challenges associated with biomarker-based classification systems for Alzheimer's disease.

Alzheimers Dement (Amst) 2018 21;10:346-357. Epub 2018 Apr 21.

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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April 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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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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June 2018

CSF sAPPβ, YKL-40, and neurofilament light in frontotemporal lobar degeneration.

Neurology 2017 Jul 7;89(2):178-188. Epub 2017 Jun 7.

From the Department of Neurology (D.A., E.V., M.S.-C., I.I.-G., R.B., J.C., J.F., A. Lleó), Institut d'Investigacions Biomèdiques Sant Pau-Hospital de Sant Pau, Universitat Autònoma de Barcelona; Alzheimer's Disease and Other Cognitive Disorders Unit (A. Lladó, R.S.-V., J.L.M.), Department of Neurology, Hospital Clínic, Institut d'Investigació Biomèdica August Pi I Sunyer, Barcelona; Servicio de Neurología (G.G.-R.), Hospital Universitario Ramón y Cajal, Madrid; Parkinson's Disease and Movement Disorders Unit (Y.C., M.J.M.), Neurology Service, Institute of Clinical Neurosciences, Hospital Clínic/IDIBAPS and University of Barcelona; Unitat de Trastorns Cognitius (G.P.-R.), Hospital Santa Maria, Lleida; Unidad de Neurología Cognitiva (G.A.-F., A.N., A.G.-M.), Servicio de Neurología, Hospital Universitari Son Espases, Palma de Mallorca; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., E.V., M.S.-C., I.I.-G., R.B., J.C., Y.C., M.J.M., J.F., A. Lleó), Madrid, Spain.

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July 2017

Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.

Alzheimers Dement 2017 Nov 29;13(11):1251-1260. Epub 2017 Apr 29.

Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; Barcelona Down Medical Center, Fundació Catalana de Síndrome de Down, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, CIBERNED, Madrid, Spain. Electronic address:

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November 2017

Validation of α-Synuclein as a CSF Biomarker for Sporadic Creutzfeldt-Jakob Disease.

Mol Neurobiol 2018 03 21;55(3):2249-2257. Epub 2017 Mar 21.

Clinical Dementia Center, Department of Neurology, University Medical Center Göttingen, Robert Koch Stasse 40, 37075, Göttingen, Germany.

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March 2018

The ε4 genotype modulates CSF YKL-40 levels and their structural brain correlates in the continuum of Alzheimer's disease but not those of sTREM2.

Alzheimers Dement (Amst) 2017 22;6:50-59. Epub 2016 Dec 22.

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.

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December 2016

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Hum Mutat 2017 03 19;38(3):297-309. Epub 2017 Jan 19.

Center for Molecular Neurology, VIB, Antwerp, Belgium.

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March 2017

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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November 2016

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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November 2017

Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer's disease.

Mol Neurodegener 2016 Sep 29;11(1):66. Epub 2016 Sep 29.

Instituto de Neurociencias de Alicante, Universidad Miguel Hernández-CSIC, 03550, Av. Ramón y Cajal s/n, Sant Joan d'Alacant, E-03550, Spain.

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September 2016

Quantitative Magnetic Resonance Abnormalities in Creutzfeldt-Jakob Disease and Fatal Insomnia.

J Alzheimers Dis 2017 ;55(1):431-443

Neurological Tissue Bank of the Biobanc-Hospital Clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.

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February 2018

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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September 2017

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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October 2016

Cerebrospinal fluid sTREM2 levels are associated with gray matter volume increases and reduced diffusivity in early Alzheimer's disease.

Alzheimers Dement 2016 12 14;12(12):1259-1272. Epub 2016 Jul 14.

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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December 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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February 2016

Assessing the role of TUBA4A gene in frontotemporal degeneration.

Neurobiol Aging 2016 Feb 5;38:215.e13-215.e14. Epub 2015 Nov 5.

Memory Unit, Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain; CIBERNED, Center for Networked Biomedical Research into Neurodegenerative Diseases, Madrid, Spain. Electronic address:

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February 2016