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Publications

Our scientific output and findings

From groundbreaking discoveries in basic science to innovative clinical insights, our publications showcase the breadth and depth of research taking place at the UK DRI. 

Molecular neurodegeneration
Published
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease
Authors
Olav M Andersen, Matthijs W J de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G Jensen, Christa de Geus, Rosalina van Spaendonk, Maartje Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W Beecham, Céline Bellenguez, Claudine Berr, Joshua C Bis, Anne Boland, Paola Bossù, Femke Bouwman, Jose Bras, Camille Charbonnier, Jordi Clarimon, Carlos Cruchaga, Antonio Daniele, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L DeStefano, Oriol Dols-Icardo, Cornelia M van Duijn, Lindsay A Farrer, Maria Victoria Fernández, Wiesje M van der Flier, Nick C Fox, Daniela Galimberti, Emmanuelle Genin, Johan J P Gille, Benjamin Grenier-Boley, Detelina Grozeva, Yann Le Guen, Rita Guerreiro, Jonathan L Haines, Clive Holmes, Holger Hummerich, M Arfan Ikram, M Kamran Ikram, Amit Kawalia, Robert Kraaij, Jean-Charles Lambert, Marc Lathrop, Afina W Lemstra, Alberto Lleó, Richard M Myers, Marcel M A M Mannens, Rachel Marshall, Eden R Martin, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Alun Meggy, Merel O Mol, Benedetta Nacmias, Adam C Naj, Valerio Napolioni, J Nicholas Cochran, Gaël Nicolas, Florence Pasquier, Pau Pastor, Margaret A Pericak-Vance, Yolande A L Pijnenburg, Fabrizio Piras, Olivier Quenez, Alfredo Ramirez, Rachel Raybould, Richard Redon, Marcel J T Reinders, Anne-Claire Richard, Steffi G Riedel-Heller, Fernando Rivadeneira, Jeroen G J van Rooij, Stéphane Rousseau, Natalie S Ryan, Pascual Sanchez-Juan, Gerard D Schellenberg, Philip Scheltens, Jonathan M Schott, Sudha Seshadri, Daoud Sie, Rebecca Sims, Erik A Sistermans, Sandro Sorbi, John C van Swieten, Betty Tijms, André G Uitterlinden, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Julie Williams, Jennifer S Yokoyama, Aline Zarea, Sven J van der Lee, Johan G Olsen, Marc Hulsman, Henne Holstege
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease
EMBO molecular medicine
Published
Prediction of continuous amyloid positron emission tomography with fluid measures of phosphorylated tau and β-amyloid
Authors
Niklas Mattsson-Carlgren, Linda Karlsson, Weizhong Tang, Kaj Blennow, Henrik Zetterberg, Randall J Bateman, Suzanne E Schindler, Nicolas Barthelemy, Sebastian Palmqvist, Erik Stomrud, Shorena Janelidze, Oskar Hansson
Prediction of continuous amyloid positron emission tomography with fluid measures of phosphorylated tau and β-amyloid
Journal of neurochemistry
Published
Clinical Validation of Novel Immunoassays for Plasma Phosphorylated Tau 217, 212, 181, 231, and Brain-Derived Tau Across the Biochemical Spectrum of Alzheimer's Disease
Authors
Maciej Dulewicz, Przemysław Radosław Kac, Fernando Gonzalez Ortiz, Thomas K Karikari, Agnieszka Kulczyńska-Przybik, Barbara Mroczko, Michael Turton, Peter Harrison, Manuel Maler, Timo Oberstein, Johannes Kornhuber, Jörg Hanrieder, Henrik Zetterberg, Kaj Blennow, Piotr Lewczuk
Clinical Validation of Novel Immunoassays for Plasma Phosphorylated Tau 217, 212, 181, 231, and Brain-Derived Tau Across the Biochemical Spectrum of Alzheimer's Disease
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Locus coeruleus-entorhinal cortex tract integrity is linked to plasma tau and glial fibrillary acidic protein
Authors
Yuliya Patsyuk, Maxime Van Egroo, Elise Beckers, Elouise A Koops, Nicholas J Ashton, Shorena Janelidze, Kaj Blennow, Oskar Hansson, Henrik Zetterberg, Benedikt A Poser, Heidi I L Jacobs
Locus coeruleus-entorhinal cortex tract integrity is linked to plasma tau and glial fibrillary acidic protein
Molecular therapy. Methods & clinical development
Published
Intrathalamic delivery of adeno-associated viral vector expressing progranulin as gene therapy for GRN-related frontotemporal dementia
Authors
Youn Bok Lee, Do Young Lee, Zoe Walker, Joseph Allison, Aleksandra Kaliszewska, Alinda Fernandes, Katharine Y Zhang, Yalem Bekele, Paniz Hosseini, Romain Joubert, Joana Furtado, McQuinn Gumus, Olivier Brock, Ali Bienemann, Steven Gill, Samantha Murray, Nadia Mitchell, Page Bouchard, Alex Bloom, John Isaac, Carlos J Miranda, Christopher E Shaw
Intrathalamic delivery of adeno-associated viral vector expressing progranulin as gene therapy for GRN-related frontotemporal dementia
Brain, behavior, & immunity - health
Published
Plasma profiles of neurology-related proteins in at-risk mental state and first-episode psychosis: Associations with psychotic symptoms and cognitive performance
Authors
Martí Llaurador-Coll, Itziar Montalvo, Francesc Estrada, Vanessa Sánchez-Gistau, Henrik Zetterberg, Javier Labad, Andrea L Benedet, Elisabet Vilella
Plasma profiles of neurology-related proteins in at-risk mental state and first-episode psychosis: Associations with psychotic symptoms and cognitive performance
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Increased neuroplastic activity in the pathogenesis of Alzheimer's disease
Authors
Corey J Bolton, Panpan Zhang, Sydney R Wilhoite, Elizabeth E Moore, Michelle L Houston, Kimberly R Pechman, Logan Dumitrescu, Amalia Peterson, Omair A Khan, Dandan Liu, Katherine A Gifford, Kaj Blennow, Timothy J Hohman, Henrik Zetterberg, Angela L Jefferson
Increased neuroplastic activity in the pathogenesis of Alzheimer's disease
Journal of neurochemistry
Published
Development and Validation of an ICP-MS/MS Method for the Multielemental Analysis of Cerebrospinal Fluid, Examination of Alzheimer's Disease Samples
Authors
Rebeca Pérez-Ramírez, Inmaculada Cuchillo-Ibáñez, Raquel Sánchez-Romero, Ana Beltrán-Sanahuja, Sergio Escamilla, Ricardo Molina-Gasset, Henrik Zetterberg, Kaj Blennow, Javier Sáez-Valero, José-Luis Todolí-Torró
Development and Validation of an ICP-MS/MS Method for the Multielemental Analysis of Cerebrospinal Fluid, Examination of Alzheimer's Disease Samples
Nature communications
Published
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Authors
Sébastien Küry, Janelle E Stanton, Geeske M van Woerden, Amélie Bosc-Rosati, Tzung-Chien Hsieh, Lise Bray, Marielle Oloudé, Cory Rosenfelt, Marie Pier Scott-Boyer, Victoria Most, Tianyun Wang, Jonas J Papendorf, Charlotte de Konink, Wallid Deb, Virginie Vignard, Maja Studencka-Turski, Thomas Besnard, Anna M Hajdukowicz, Franziska G Thiel, Sophie Wolfgramm, Laëtitia Florenceau, Silvestre Cuinat, Sylvain Marsac, Yann Verrès, Audrey Dangoumau, Léa Poirier, Ingrid M Wentzensen, Annabelle Tuttle, Cara Forster, Johanna Striesow, Richard Golnik, Damara Ortiz, Laura Jenkins, Jill A Rosenfeld, Alban Ziegler, Clara Houdayer, Dominique Bonneau, Erin Torti, Amber Begtrup, Kristin G Monaghan, Sureni V Mullegama, Catharina M L Nienke Volker-Touw, Koen L I van Gassen, Renske Oegema, Mirjam S de Pagter, Katharina Steindl, Anita Rauch, Ivan Ivanovski, Kimberly McDonald, Emily Boothe, Andrew Dauber, Janice Baker, Noelle Andrea V Fabie, Raphael A Bernier, Tychele N Turner, Siddharth Srivastava, Kira A Dies, Lindsay C Swanson, Carrie Costin, Alali Abdulrazak, Rebekah K Jobling, John Pappas, Rachel Rabin, Dmitriy Niyazov, Anne Chun-Hui Tsai, Karen Kovak, David B Beck, May Christine V Malicdan, David R Adams, Lynne Wolfe, Rebecca D Ganetzky, Colleen C Muraresku, Davit Babikyan, Zdeněk Sedláček, Miroslava Hančárová, Andrew T Timberlake, Hind Al Saif, Berkley Nestler, Kayla King, M J Hajianpour, Gregory Costain, D'Arcy Prendergast, Chumei Li, David Geneviève, Antonio Vitobello, Arthur Sorlin, Christophe Philippe, Tamar Harel, Ori Toker, Ataf Sabir, Derek Lim, Mark J Hamilton, Lisa J Bryson, Elaine Cleary, Sacha Weber, Trevor L Hoffman, Anna M Cueto-González, Eduardo F Tizzano, David Gómez-Andrés, Marta Codina-Solà, Athina Ververi, Efterpi Pavlidou, Alexandros Lambropoulos, Kyriakos Garganis, Marlène Rio, Jonathan Levy, Sarah J Langas, Anne M McRae, Mathieu K Lessard, Maria Daniela D'Agostino, Isabelle De Bie, Meret Wegler, Rami Abou Jamra, Susanne B Kamphausen, Viktoria Bothe, Lorraine Potocki, Eric Olinger, Yves Sznajer, Elsa Wiame, Michelle L Thompson, Molly C Schroeder, Catherine Gooch, Raphael A Smith, Arti Pandya, Larissa M Busch, Uwe Völker, Elke Hammer, Kristian Wende, Benjamin Cogné, Bertrand Isidor, Jens Meiler, Clémentine Ripoll, Stéphanie Bigou, Frédéric Laumonnier, Peter W Hildebrand, Evan E Eichler, Kirsty McWalter, Peter M Krawitz, Florence Roux-Dalvai, Ype Elgersma, Julien Marcoux, Marie-Pierre Bousquet, Arnaud Droit, Jeremie Poschmann, Andreas M Grabrucker, Francois V Bolduc, Stéphane Bézieau, Frédéric Ebstein, Elke Krüger
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies