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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. 

Nat Genet
Published

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

Authors
Ruth Chia, Marya S Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina H Reynolds, Emil Gustavsson, Ronald L Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B Makarious, Monica Diez-Fairen, Makayla K Portley, Zalak Shah, Yevgeniya Abramzon, Dena G Hernandez, Cornelis Blauwendraat, David J Stone, John Eicher, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S Honig, Karen Marder, Afina Lemstra, Peter St George-Hyslop, Elisabet Londos, Kevin Morgan, Tammaryn Lashley, Thomas T Warner, Zane Jaunmuktane, Douglas Galasko, Isabel Santana, Pentti J Tienari, Liisa Myllykangas, Minna Oinas, Nigel J Cairns, John C Morris, Glenda M Halliday, Vivianna M Van Deerlin, John Q Trojanowski, Maurizio Grassano, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C Bohannan, Francesca Brett, Ziv Gan-Or, Joshua T Geiger, Anni Moore, Patrick May, Rejko Krüger, David S Goldstein, Grisel Lopez, Nahid Tayebi, Ellen Sidransky, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, Vikram G Shakkottai, Matthew Perkins, Kathy L Newell, Thomas Gasser, Claudia Schulte, Francesco Landi, Erika Salvi, Daniele Cusi, Eliezer Masliah, Ronald C Kim, Chad A Caraway, Edwin S Monuki, Maura Brunetti, Ted M Dawson, Liana S Rosenthal, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Margaret E Flanagan, Qinwen Mao, Eileen H Bigio, Eloy Rodríguez-Rodríguez, Jon Infante, Carmen Lage, Isabel González-Aramburu, Pascual Sanchez-Juan, Bernardino Ghetti, Julia Keith, Sandra E Black, Mario Masellis, Ekaterina Rogaeva, Charles Duyckaerts, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Matthew J Barrett, Bension S Tilley, Steve Gentleman, Giancarlo Logroscino, Geidy E Serrano, Thomas G Beach, Ian G McKeith, Alan J Thomas, Johannes Attems, Christopher M Morris, Laura Palmer, Seth Love, Claire Troakes, Safa Al-Sarraj, Angela K Hodges, Dag Aarsland, Gregory Klein, Scott M Kaiser, Randy Woltjer, Pau Pastor, Lynn M Bekris, James B Leverenz, Lilah M Besser, Amanda Kuzma, Alan E Renton, Alison Goate, David A Bennett, Clemens R Scherzer, Huw R Morris, Raffaele Ferrari, Diego Albani, Stuart Pickering-Brown, Kelley Faber, Walter A Kukull, Estrella Morenas-Rodriguez, Alberto Lleó, Juan Fortea, Daniel Alcolea, Jordi Clarimon, Mike A Nalls, Luigi Ferrucci, Susan M Resnick, Toshiko Tanaka, Tatiana M Foroud, Neill R Graff-Radford, Zbigniew K Wszolek, Tanis Ferman, Bradley F Boeve, John A Hardy, Eric J Topol, Ali Torkamani, Andrew B Singleton, Mina Ryten, Dennis W Dickson, Adriano Chiò, Owen A Ross, J Raphael Gibbs, Clifton L Dalgard, Bryan J Traynor, Sonja W Scholz
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Mol Neurodegener
Published

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.

Authors
Emma M Perkins, Karen Burr, Poulomi Banerjee, Arpan R Mehta, Owen Dando, Bhuvaneish T Selvaraj, Daumante Suminaite, Jyoti Nanda, Christopher M Henstridge, Thomas H Gillingwater, Giles E Hardingham, David J A Wyllie, Siddharthan Chandran, Matthew R Livesey
Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.
Mol Neurodegener
Published

Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.

Authors
Emma M Perkins, Karen Burr, Poulomi Banerjee, Arpan R Mehta, Owen Dando, Bhuvaneish T Selvaraj, Daumante Suminaite, Jyoti Nanda, Christopher M Henstridge, Thomas H Gillingwater, Giles E Hardingham, David J A Wyllie, Siddharthan Chandran, Matthew R Livesey
Altered network properties in C9ORF72 repeat expansion cortical neurons are due to synaptic dysfunction.
Lancet Neurol
Published

New insights into atypical Alzheimer's disease in the era of biomarkers.

Authors
Jonathan Graff-Radford, Keir X X Yong, Liana G Apostolova, Femke H Bouwman, Maria Carrillo, Bradford C Dickerson, Gil D Rabinovici, Jonathan M Schott, David T Jones, Melissa E Murray
New insights into atypical Alzheimer's disease in the era of biomarkers.
Brain
Published

Population-based blood screening for preclinical Alzheimer's disease in a British birth cohort at age 70.

Authors
Ashvini Keshavan, Josef Pannee, Thomas K Karikari, Juan Lantero Rodriguez, Nicholas J Ashton, Jennifer M Nicholas, David M Cash, William Coath, Christopher A Lane, Thomas D Parker, Kirsty Lu, Sarah M Buchanan, Sarah E Keuss, Sarah-Naomi James, Heidi Murray-Smith, Andrew Wong, Anna Barnes, John C Dickson, Amanda Heslegrave, Erik Portelius, Marcus Richards, Nick C Fox, Henrik Zetterberg, Kaj Blennow, Jonathan M Schott
Population-based blood screening for preclinical Alzheimer's disease in a British birth cohort at age 70.
Acta Neuropathol
Published

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis.

Authors
Arpan R Mehta, Jenna M Gregory, Owen Dando, Roderick N Carter, Karen Burr, Jyoti Nanda, David Story, Karina McDade, Colin Smith, Nicholas M Morton, Don J Mahad, Giles E Hardingham, Siddharthan Chandran, Bhuvaneish T Selvaraj
Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis.
Nat Neurosci
Published

Reactive astrocyte nomenclature, definitions, and future directions.

Authors
Carole Escartin, Elena Galea, András Lakatos, James P O'Callaghan, Gabor C Petzold, Alberto Serrano-Pozo, Christian Steinhäuser, Andrea Volterra, Giorgio Carmignoto, Amit Agarwal, Nicola J Allen, Alfonso Araque, Luis Barbeito, Ari Barzilai, Dwight E Bergles, Gilles Bonvento, Arthur M Butt, Wei-Ting Chen, Martine Cohen-Salmon, Colm Cunningham, Benjamin Deneen, Bart De Strooper, Blanca Díaz-Castro, Cinthia Farina, Marc Freeman, Vittorio Gallo, James E Goldman, Steven A Goldman, Magdalena Götz, Antonia Gutiérrez, Philip G Haydon, Dieter H Heiland, Elly M Hol, Matthew G Holt, Masamitsu Iino, Ksenia V Kastanenka, Helmut Kettenmann, Baljit S Khakh, Schuichi Koizumi, C Justin Lee, Shane A Liddelow, Brian A MacVicar, Pierre Magistretti, Albee Messing, Anusha Mishra, Anna V Molofsky, Keith K Murai, Christopher M Norris, Seiji Okada, Stéphane H R Oliet, João F Oliveira, Aude Panatier, Vladimir Parpura, Marcela Pekna, Milos Pekny, Luc Pellerin, Gertrudis Perea, Beatriz G Pérez-Nievas, Frank W Pfrieger, Kira E Poskanzer, Francisco J Quintana, Richard M Ransohoff, Miriam Riquelme-Perez, Stefanie Robel, Christine R Rose, Jeffrey D Rothstein, Nathalie Rouach, David H Rowitch, Alexey Semyanov, Swetlana Sirko, Harald Sontheimer, Raymond A Swanson, Javier Vitorica, Ina-Beate Wanner, Levi B Wood, Jiaqian Wu, Binhai Zheng, Eduardo R Zimmer, Robert Zorec, Michael V Sofroniew, Alexei Verkhratsky
Reactive astrocyte nomenclature, definitions, and future directions.
Cancer Discov
Published

Somatic HLA Class I Loss Is a Widespread Mechanism of Immune Evasion Which Refines the Use of Tumor Mutational Burden as a Biomarker of Checkpoint Inhibitor Response.

Authors
Meagan Montesion, Karthikeyan Murugesan, Dexter X Jin, Radwa Sharaf, Nora Sanchez, Ameet Guria, Max Minker, Gerald Li, Virginia Fisher, Ethan S Sokol, Dean C Pavlick, Jay A Moore, Alan Braly, Gaurav Singal, David Fabrizio, Leah A Comment, Naiyer A Rizvi, Brian M Alexander, Garrett M Frampton, Priti S Hegde, Lee A Albacker
Somatic HLA Class I Loss Is a Widespread Mechanism of Immune Evasion Which Refines the Use of Tumor Mutational Burden as a Biomarker of Checkpoint Inhibitor Response.
J Neurol Neurosurg Psychiatry
Published

Fluid biomarkers in frontotemporal dementia: past, present and future.

Authors
Imogen Joanna Swift, Aitana Sogorb-Esteve, Carolin Heller, Matthis Synofzik, Markus Otto, Caroline Graff, Daniela Galimberti, Emily Todd, Amanda J Heslegrave, Emma Louise van der Ende, John Cornelis Van Swieten, Henrik Zetterberg, Jonathan Daniel Rohrer
Fluid biomarkers in frontotemporal dementia: past, present and future.
Sleep
Published

Alzheimer's disease genetic risk and sleep phenotypes in healthy young men: association with more slow waves and daytime sleepiness.

Authors
Vincenzo Muto, Ekaterina Koshmanova, Pouya Ghaemmaghami, Mathieu Jaspar, Christelle Meyer, Mahmoud Elansary, Maxime Van Egroo, Daphne Chylinski, Christian Berthomier, Marie Brandewinder, Charlotte Mouraux, Christina Schmidt, Grégory Hammad, Wouter Coppieters, Naima Ahariz, Christian Degueldre, André Luxen, Eric Salmon, Christophe Phillips, Simon N Archer, Loic Yengo, Enda Byrne, Fabienne Collette, Michel Georges, Derk-Jan Dijk, Pierre Maquet, Peter M Visscher, Gilles Vandewalle
Alzheimer's disease genetic risk and sleep phenotypes in healthy young men: association with more slow waves and daytime sleepiness.
Sleep
Published

Alzheimer's disease genetic risk and sleep phenotypes in healthy young men: association with more slow waves and daytime sleepiness.

Authors
Vincenzo Muto, Ekaterina Koshmanova, Pouya Ghaemmaghami, Mathieu Jaspar, Christelle Meyer, Mahmoud Elansary, Maxime Van Egroo, Daphne Chylinski, Christian Berthomier, Marie Brandewinder, Charlotte Mouraux, Christina Schmidt, Grégory Hammad, Wouter Coppieters, Naima Ahariz, Christian Degueldre, André Luxen, Eric Salmon, Christophe Phillips, Simon N Archer, Loic Yengo, Enda Byrne, Fabienne Collette, Michel Georges, Derk-Jan Dijk, Pierre Maquet, Peter M Visscher, Gilles Vandewalle
Alzheimer's disease genetic risk and sleep phenotypes in healthy young men: association with more slow waves and daytime sleepiness.