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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. 

Nature structural & molecular biology
Published
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Authors
Pilar Álvarez Jerez, Peter Wild Crea, Daniel M Ramos, Emil K Gustavsson, Mandy Radefeldt, Andrey Damianov, Mary B Makarious, Oluwadamilola O Ojo, Kimberley J Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Fangle Hu, Zachary Schneider, Aditya L Surapaneni, Julia Stadler, Mie Rizig, Huw R Morris, Caroline B Pantazis, Hampton L Leonard, Laurel Screven, Yue A Qi, Mike A Nalls, Sara Bandres-Ciga, John Hardy, Henry Houlden, Celeste Eng, Esteban González Burchard, Linda Kachuri, Chia-Ho Lin, Douglas L Black, Global Parkinson’s Genetics Program (GP2), Andrew B Singleton, Steffen Fischer, Peter Bauer, Xylena Reed, Mina Ryten, Christian Beetz, Michael Ward, Njideka U Okubadejo, Cornelis Blauwendraat
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Journal of neurology
Published
Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort
Authors
Dhamidhu Eratne, Qiao-Xin Li, Courtney Lewis, Christa Dang, Matthew J Y Kang, Jasleen Grewal, Samantha Loi, Mark Walterfang, Andrew H Evans, Charles B Malpas, Steve Pedrini, Ralph Martins, Pratishtha Chatterjee, Henrik Zetterberg, Kaj Blennow, Samuel F Berkovic, Alexander F Santillo, Steven Collins, Colin L Masters, Dennis Velakoulis, MiND Study Group
Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort
Alzheimer's & dementia (Amsterdam, Netherlands)
Published
Artificial intelligence-based rapid brain volumetry substantially improves differential diagnosis in dementia
Authors
Jan Rudolph, Johannes Rueckel, Jörg Döpfert, Wen Xin Ling, Jens Opalka, Christian Brem, Nina Hesse, Maria Ingenerf, Vanessa Koliogiannis, Olga Solyanik, Boj F Hoppe, Hanna Zimmermann, Wilhelm Flatz, Robert Forbrig, Maximilian Patzig, Boris-Stephan Rauchmann, Robert Perneczky, Oliver Peters, Josef Priller, Anja Schneider, Klaus Fliessbach, Andreas Hermann, Jens Wiltfang, Frank Jessen, Emrah Düzel, Katharina Buerger, Stefan Teipel, Christoph Laske, Matthis Synofzik, Annika Spottke, Michael Ewers, Peter Dechent, John-Dylan Haynes, Johannes Levin, Thomas Liebig, Jens Ricke, Michael Ingrisch, Sophia Stoecklein
Artificial intelligence-based rapid brain volumetry substantially improves differential diagnosis in dementia
Nature reviews. Immunology
Published
Neuroinflammation in Alzheimer disease
Authors
Michael T Heneka, Wiesje M van der Flier, Frank Jessen, Jeroen Hoozemanns, Dietmar Rudolf Thal, Delphine Boche, Frederic Brosseron, Charlotte Teunissen, Henrik Zetterberg, Andreas H Jacobs, Paul Edison, Alfredo Ramirez, Carlos Cruchaga, Jean-Charles Lambert, Agustin Ruiz Laza, Jose Vicente Sanchez-Mut, Andre Fischer, Sergio Castro-Gomez, Thor D Stein, Luca Kleineidam, Michael Wagner, Jonas J Neher, Colm Cunningham, Sim K Singhrao, Marco Prinz, Christopher K Glass, Johannes C M Schlachetzki, Oleg Butovsky, Kilian Kleemann, Philip L De Jaeger, Hannah Scheiblich, Guy C Brown, Gary Landreth, Miguel Moutinho, Jaime Grutzendler, Diego Gomez-Nicola, Róisín M McManus, Katrin Andreasson, Christina Ising, Deniz Karabag, Darren J Baker, Shane A Liddelow, Alexei Verkhratsky, Malu Tansey, Alon Monsonego, Ludwig Aigner, Guillaume Dorothée, Klaus-Armin Nave, Mikael Simons, Gabriela Constantin, Neta Rosenzweig, Alberto Pascual, Gabor C Petzold, Jonathan Kipnis, Carmen Venegas, Marco Colonna, Jochen Walter, Andrea J Tenner, M Kerry O'Banion, Joern R Steinert, Douglas L Feinstein, Magdalena Sastre, Kiran Bhaskar, Soyon Hong, Dorothy P Schafer, Todd Golde, Richard M Ransohoff, David Morgan, John Breitner, Renzo Mancuso, Sean-Patrick Riechers
Neuroinflammation in Alzheimer disease
Stroke
Published
Heterogeneity and Penumbra of White Matter Hyperintensities in Small Vessel Diseases Determined by Quantitative MRI
Authors
Paulien H M Voorter, Michael S Stringer, Maud van Dinther, Daniëlle Kerkhofs, Anna Dewenter, Gordon W Blair, Michael J Thrippleton, Daniela Jaime Garcia, Francesca M Chappell, Esther Janssen, Anna Kopczak, Julie Staals, Michael Ingrisch, Marco Duering, Fergus N Doubal, Martin Dichgans, Robert J van Oostenbrugge, Jacobus F A Jansen, Joanna M Wardlaw, Walter H Backes, SVDs@target Consortium
Heterogeneity and Penumbra of White Matter Hyperintensities in Small Vessel Diseases Determined by Quantitative MRI
medRxiv : the preprint server for health sciences
Published
Targeted Proteomic Biomarker Profiling Using NULISA in a cohort enriched with risk for Alzheimer's Disease and Related Dementias
Authors
Ramiro Eduardo Rea Reyes, Rachael E Wilson, Rebecca E Langhough, Rachel L Studer, Erin M Jonaitis, Julie E Oomens, Elizabeth M Planalp, Barbara B Bendlin, Nathaniel A Chin, Sanjay Asthana, Henrik Zetterberg, Sterling C Johnson
Targeted Proteomic Biomarker Profiling Using NULISA in a cohort enriched with risk for Alzheimer's Disease and Related Dementias
Journal of internal medicine
Published
Plasma brain-derived tau correlates with cerebral infarct volume
Authors
Fernando Gonzalez-Ortiz, Lukas Holmegaard, Björn Andersson, Cecilia Brännmark, Christian Blomstrand, Henrik Zetterberg, Katarina Jood, Kaj Blennow, Christina Jern, Tara M Stanne
Plasma brain-derived tau correlates with cerebral infarct volume
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Clinical value of novel blood-based tau biomarkers in Creutzfeldt-Jakob disease
Authors
Giuseppe Mario Bentivenga, Fernando Gonzalez-Ortiz, Simone Baiardi, Bjørn-Eivind Kirsebom, Andrea Mastrangelo, Angela Mammana, Sabina Capellari, Tormod Fladby, Henrik Zetterberg, Kaj Blennow, Piero Parchi
Clinical value of novel blood-based tau biomarkers in Creutzfeldt-Jakob disease
Movement disorders : official journal of the Movement Disorder Society
Published
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder
Authors
Zhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, Martin Paucar, Jasmaine Lee, Daniel Nilsson, Hannah Macpherson, Annarita Scardamaglia, Kylie Montgomery, John Hardy, Andrew B Singleton, Arianna Tucci, Katherine D Mathews, Ying-Hui Fu, Martin Engvall, José Laffita-Mesa, Inger Nennesmo, Anna Wedell, Louis J Ptáček, Cornelis Blauwendraat, Emil K Gustavsson, Per Svenningsson, Mina Ryten, Henry Houlden
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder
Molecular psychiatry
Published
X-chromosome-wide association study for Alzheimer's disease
Authors
Julie Le Borgne, Lissette Gomez, Sami Heikkinen, Najaf Amin, Shahzad Ahmad, Seung Hoan Choi, Joshua Bis, Benjamin Grenier-Boley, Omar Garcia Rodriguez, Luca Kleineidam, Juan Young, Kumar Parijat Tripathi, Lily Wang, Achintya Varma, Rafael Campos-Martin, Sven van der Lee, Vincent Damotte, Itziar de Rojas, Sagnik Palmal, EADB, GR@ACE, DEGESCO, EADI, GERAD, DemGene, FinnGen, ADGC, CHARGE, Richard Lipton, Eric Reiman, Ann McKee, Philip De Jager, William Bush, Scott Small, Allan Levey, Andrew Saykin, Tatiana Foroud, Marilyn Albert, Bradley Hyman, Ronald Petersen, Steven Younkin, Mary Sano, Thomas Wisniewski, Robert Vassar, Julie Schneider, Victor Henderson, Erik Roberson, Charles DeCarli, Frank LaFerla, James Brewer, Russell Swerdlow, Linda Van Eldik, Kara Hamilton-Nelson, Henry Paulson, Adam Naj, Oscar Lopez, Helena Chui, Paul Crane, Thomas Grabowski, Walter Kukull, Sanjay Asthana, Suzanne Craft, Stephen Strittmatter, Carlos Cruchaga, James Leverenz, Alison Goate, M Ilyas Kamboh, Peter St George-Hyslop, Otto Valladares, Amanda Kuzma, Laura Cantwell, Matthias Riemenschneider, John Morris, Susan Slifer, Carolina Dalmasso, Atahualpa Castillo, Fahri Küçükali, Oliver Peters, Anja Schneider, Martin Dichgans, Dan Rujescu, Norbert Scherbaum, Jürgen Deckert, Steffi Riedel-Heller, Lucrezia Hausner, Laura Molina-Porcel, Emrah Düzel, Timo Grimmer, Jens Wiltfang, Stefanie Heilmann-Heimbach, Susanne Moebus, Thomas Tegos, Nikolaos Scarmeas, Oriol Dols-Icardo, Fermin Moreno, Jordi Pérez-Tur, María J Bullido, Pau Pastor, Raquel Sánchez-Valle, Victoria Álvarez, Mercè Boada, Pablo García-González, Raquel Puerta, Pablo Mir, Luis M Real, Gerard Piñol-Ripoll, Jose María García-Alberca, Jose Luís Royo, Eloy Rodriguez-Rodriguez, Hilkka Soininen, Alexandre de Mendonça, Shima Mehrabian, Latchezar Traykov, Jakub Hort, Martin Vyhnalek, Jesper Qvist Thomassen, Yolande A L Pijnenburg, Henne Holstege, John van Swieten, Inez Ramakers, Frans Verhey, Philip Scheltens, Caroline Graff, Goran Papenberg, Vilmantas Giedraitis, Anne Boland, Jean-François Deleuze, Gael Nicolas, Carole Dufouil, Florence Pasquier, Olivier Hanon, Stéphanie Debette, Edna Grünblatt, Julius Popp, Roberta Ghidoni, Daniela Galimberti, Beatrice Arosio, Patrizia Mecocci, Vincenzo Solfrizzi, Lucilla Parnetti, Alessio Squassina, Lucio Tremolizzo, Barbara Borroni, Benedetta Nacmias, Marco Spallazzi, Davide Seripa, Innocenzo Rainero, Antonio Daniele, Paola Bossù, Carlo Masullo, Giacomina Rossi, Frank Jessen, Victoria Fernandez, Patrick Gavin Kehoe, Ruth Frikke-Schmidt, Magda Tsolaki, Pascual Sánchez-Juan, Kristel Sleegers, Martin Ingelsson, Jonathan Haines, Lindsay Farrer, Richard Mayeux, Li-San Wang, Rebecca Sims, Anita DeStefano, Gerard D Schellenberg, Sudha Seshadri, Philippe Amouyel, Julie Williams, Wiesje van der Flier, Alfredo Ramirez, Margaret Pericak-Vance, Ole A Andreassen, Cornelia Van Duijn, Mikko Hiltunen, Agustín Ruiz, Josée Dupuis, Eden Martin, Jean-Charles Lambert, Brian Kunkle, Céline Bellenguez
X-chromosome-wide association study for Alzheimer's disease
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Plasma p-tau immunoassays in clinical research for Alzheimer's disease
Authors
Charlotte E Teunissen, Rachel Kolster, Gallen Triana-Baltzer, Shorena Janelidze, Henrik Zetterberg, Hartmuth C Kolb
Plasma p-tau immunoassays in clinical research for Alzheimer's disease