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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. 

Cell genomics
Published

Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data

Authors
Sara Saez-Atienzar, Cleide Dos Santos Souza, Ruth Chia, Selina N Beal, Ileana Lorenzini, Ruili Huang, Jennifer Levy, Camelia Burciu, Jinhui Ding, J Raphael Gibbs, Ashley Jones, Ramita Dewan, Viviana Pensato, Silvia Peverelli, Lucia Corrado, Joke J F A van Vugt, Wouter van Rheenen, Ceren Tunca, Elif Bayraktar, Menghang Xia, International ALS Genomics Consortium, ITALSGEN Consortium, SLAGEN Consortium, Project MinE ALS Sequencing Consortium, Alfredo Iacoangeli, Aleksey Shatunov, Cinzia Tiloca, Nicola Ticozzi, Federico Verde, Letizia Mazzini, Kevin Kenna, Ahmad Al Khleifat, Sarah Opie-Martin, Flavia Raggi, Massimiliano Filosto, Stefano Cotti Piccinelli, Alessandro Padovani, Stella Gagliardi, Maurizio Inghilleri, Alessandra Ferlini, Rosario Vasta, Andrea Calvo, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Jessica Mandrioli, Gabriele Mora, Christian Lunetta, Raffaella Tanel, Francesca Trojsi, Patrizio Cardinali, Salvatore Gallone, Maura Brunetti, Daniela Galimberti, Maria Serpente, Chiara Fenoglio, Elio Scarpini, Giacomo P Comi, Stefania Corti, Roberto Del Bo, Mauro Ceroni, Giuseppe Lauria Pinter, Franco Taroni, Eleonora Dalla Bella, Enrica Bersano, Charles J Curtis, Sang Hyuck Lee, Raymond Chung, Hamel Patel, Karen E Morrison, Johnathan Cooper-Knock, Pamela J Shaw, Gerome Breen, Richard J B Dobson, Clifton L Dalgard, American Genome Center, Sonja W Scholz, Ammar Al-Chalabi, Leonard H van den Berg, Russell McLaughlin, Orla Hardiman, Cristina Cereda, Gianni Sorarù, Sandra D'Alfonso, Siddharthan Chandran, Suvankar Pal, Antonia Ratti, Cinzia Gellera, Kory Johnson, Tara Doucet-O'Hare, Nicholas Pasternack, Tongguang Wang, Avindra Nath, Gabriele Siciliano, Vincenzo Silani, Ayşe Nazlı Başak, Jan H Veldink, William Camu, Jonathan D Glass, John E Landers, Adriano Chiò, Rita Sattler, Christopher E Shaw, Laura Ferraiuolo, Isabella Fogh, Bryan J Traynor
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
Genome biology
Published

A comprehensive study of genetic regulation and disease associations of plasma circulatory microRNAs using population-level data

Authors
Rima Mustafa, Michelle M J Mens, Arno van Hilten, Jian Huang, Gennady Roshchupkin, Tianxiao Huan, Linda Broer, Joyce B J van Meurs, Paul Elliott, Daniel Levy, M Arfan Ikram, Marina Evangelou, Abbas Dehghan, Mohsen Ghanbari
A comprehensive study of genetic regulation and disease associations of plasma circulatory microRNAs using population-level data
Nature genetics
Published

Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries

Authors
Luis M García-Marín, Adrian I Campos, Santiago Diaz-Torres, Jill A Rabinowitz, Zuriel Ceja, Brittany L Mitchell, Katrina L Grasby, Jackson G Thorp, Ingrid Agartz, Saud Alhusaini, David Ames, Philippe Amouyel, Ole A Andreassen, Konstantinos Arfanakis, Alejandro Arias-Vasquez, Nicola J Armstrong, Lavinia Athanasiu, Mark E Bastin, Alexa S Beiser, David A Bennett, Joshua C Bis, Marco P M Boks, Dorret I Boomsma, Henry Brodaty, Rachel M Brouwer, Jan K Buitelaar, Ralph Burkhardt, Wiepke Cahn, Vince D Calhoun, Owen T Carmichael, Mallar Chakravarty, Qiang Chen, Christopher R K Ching, Sven Cichon, Benedicto Crespo-Facorro, Fabrice Crivello, Anders M Dale, George Davey Smith, Eco J C de Geus, Philip L De Jager, Greig I de Zubicaray, Stéphanie Debette, Charles DeCarli, Chantal Depondt, Sylvane Desrivières, Srdjan Djurovic, Stefan Ehrlich, Susanne Erk, Thomas Espeseth, Guillén Fernández, Irina Filippi, Simon E Fisher, Debra A Fleischman, Evan Fletcher, Myriam Fornage, Andreas J Forstner, Clyde Francks, Barbara Franke, Tian Ge, Aaron L Goldman, Hans J Grabe, Robert C Green, Oliver Grimm, Nynke A Groenewold, Oliver Gruber, Vilmundur Gudnason, Asta K Håberg, Unn K Haukvik, Andreas Heinz, Derrek P Hibar, Saima Hilal, Jayandra J Himali, Beng-Choon Ho, David F Hoehn, Pieter J Hoekstra, Edith Hofer, Wolfgang Hoffmann, Avram J Holmes, Georg Homuth, Norbert Hosten, M Kamran Ikram, Jonathan C Ipser, Clifford R Jack, Neda Jahanshad, Erik G Jönsson, Rene S Kahn, Ryota Kanai, Marieke Klein, Maria J Knol, Lenore J Launer, Stephen M Lawrie, Stephanie Le Hellard, Phil H Lee, Hervé Lemaître, Shuo Li, David C M Liewald, Honghuang Lin, W T Longstreth, Oscar L Lopez, Michelle Luciano, Pauline Maillard, Andre F Marquand, Nicholas G Martin, Jean-Luc Martinot, Karen A Mather, Venkata S Mattay, Katie L McMahon, Patrizia Mecocci, Ingrid Melle, Andreas Meyer-Lindenberg, Nazanin Mirza-Schreiber, Yuri Milaneschi, Thomas H Mosley, Thomas W Mühleisen, Bertram Müller-Myhsok, Susana Muñoz Maniega, Matthias Nauck, Kwangsik Nho, Wiro J Niessen, Markus M Nöthen, Paul A Nyquist, Jaap Oosterlaan, Massimo Pandolfo, Tomas Paus, Zdenka Pausova, Brenda W J H Penninx, G Bruce Pike, Bruce M Psaty, Benno Pütz, Simone Reppermund, Marcella D Rietschel, Shannon L Risacher, Nina Romanczuk-Seiferth, Rafael Romero-Garcia, Gennady V Roshchupkin, Jerome I Rotter, Perminder S Sachdev, Philipp G Sämann, Arvin Saremi, Muralidharan Sargurupremraj, Andrew J Saykin, Lianne Schmaal, Helena Schmidt, Reinhold Schmidt, Peter R Schofield, Markus Scholz, Gunter Schumann, Emanuel Schwarz, Li Shen, Jean Shin, Sanjay M Sisodiya, Albert V Smith, Jordan W Smoller, Hilkka S Soininen, Vidar M Steen, Dan J Stein, Jason L Stein, Sophia I Thomopoulos, Arthur W Toga, Diana Tordesillas-Gutiérrez, Julian N Trollor, Maria C Valdes-Hernandez, Dennis van T Ent, Hans van Bokhoven, Dennis van der Meer, Nic J A van der Wee, Javier Vázquez-Bourgon, Dick J Veltman, Meike W Vernooij, Arno Villringer, Louis N Vinke, Henry Völzke, Henrik Walter, Joanna M Wardlaw, Daniel R Weinberger, Michael W Weiner, Wei Wen, Lars T Westlye, Eric Westman, Tonya White, A Veronica Witte, Christiane Wolf, Jingyun Yang, Marcel P Zwiers, M Arfan Ikram, Sudha Seshadri, Paul M Thompson, Claudia L Satizabal, Sarah E Medland, Miguel E Rentería
Genomic analysis of intracranial and subcortical brain volumes yields polygenic scores accounting for variation across ancestries
Brain : a journal of neurology
Published

Neurodegenerative fluid biomarkers are enriched in human cervical lymph nodes

Authors
Adam Al-Diwani, Nicholas M Provine, Andrew Murchison, Rhiannon Laban, Owen J Swann, Ivan Koychev, Fintan Sheerin, Sandro Da Mesquita, Amanda Heslegrave, Henrik Zetterberg, Paul Klenerman, Sarosh R Irani
Neurodegenerative fluid biomarkers are enriched in human cervical lymph nodes
Acta neuropathologica communications
Published

Mapping the glial transcriptome in Huntington's disease using snRNAseq: selective disruption of glial signatures across brain regions

Authors
Sunniva M K Bøstrand, Luise A Seeker, Nadine Bestard-Cuche, Nina-Lydia Kazakou, Sarah Jäkel, Boyd Kenkhuis, Neil C Henderson, Susanne T de Bot, Willeke M C van Roon-Mom, Josef Priller, Anna Williams
Mapping the glial transcriptome in Huntington's disease using snRNAseq: selective disruption of glial signatures across brain regions
Alzheimer's research & therapy
Published

Plasma neurofilament light chain as prognostic marker of cognitive decline in neurodegenerative diseases, a clinical setting study

Authors
Karl Götze, Agathe Vrillon, Julien Dumurgier, Sandrine Indart, Marta Sanchez-Ortiz, Hela Slimi, Agathe Raynaud-Simon, Emmanuel Cognat, Matthieu Martinet, Henrik Zetterberg, Kaj Blennow, Claire Hourrègue, Elodie Bouaziz-Amar, Claire Paquet, Matthieu Lilamand
Plasma neurofilament light chain as prognostic marker of cognitive decline in neurodegenerative diseases, a clinical setting study
The Lancet. Neurology
Published

Tenecteplase versus alteplase for acute stroke within 4·5 h of onset (ATTEST-2): a randomised, parallel group, open-label trial

Authors
Keith W Muir, Gary A Ford, Ian Ford, Joanna M Wardlaw, Alex McConnachie, Nicola Greenlaw, Grant Mair, Nikola Sprigg, Christopher I Price, Mary Joan MacLeod, Sofia Dima, Marius Venter, Liqun Zhang, Eoin O'Brien, Ranjan Sanyal, John Reid, Laszlo K Sztriha, Syed Haider, William N Whiteley, James Kennedy, Richard Perry, Sekaran Lakshmanan, Annie Chakrabarti, Ahamad Hassan, Richard Marigold, Senthil Raghunathan, Don Sims, Mohit Bhandari, Ivan Wiggam, Khalid Rashed, Chris Douglass, ATTEST-2 Investigators
Tenecteplase versus alteplase for acute stroke within 4·5 h of onset (ATTEST-2): a randomised, parallel group, open-label trial
Brain : a journal of neurology
Published

Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults

Authors
Kirsty Lu, John Baker, Jennifer M Nicholas, Rebecca E Street, Sarah E Keuss, William Coath, Sarah-Naomi James, Ashvini Keshavan, Philip S J Weston, Heidi Murray-Smith, David M Cash, Ian B Malone, Andrew Wong, Nick C Fox, Marcus Richards, Sebastian J Crutch, Jonathan M Schott
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults
Journal of the American Heart Association
Published

Choroid Plexus Volume in Rural Chinese Older Adults: Distribution and Association With Cardiovascular Risk Factors and Cerebral Small Vessel Disease

Authors
Chunyan Li, Huisi Zhang, Jiafeng Wang, Xiaodong Han, Cuicui Liu, Yuanjing Li, Tao Gong, Tingting Hou, Yongxiang Wang, Lin Cong, Grégoria Kalpouzos, Joanna Wardlaw, Lin Song, Yifeng Du, Chengxuan Qiu
Choroid Plexus Volume in Rural Chinese Older Adults: Distribution and Association With Cardiovascular Risk Factors and Cerebral Small Vessel Disease
medRxiv : the preprint server for health sciences
Published

Genome-wide scan of Flortaucipir PET levels finds <em>JARID2</em> associated with cerebral tau deposition

Authors
Tamil Iniyan Gunasekaran, Devendra Meena, Annie J Lee, Siwei Wu, Logan Dumitrescu, Reisa Sperling, Timothy J Hohman, Alzheimer’s Disease Neuroimaging Initiative, A4 Study, Jingxian Huang, Abbas Dehghan, Ioanna Tzoulaki, Richard Mayeux, Badri Vardarajan
Genome-wide scan of Flortaucipir PET levels finds <em>JARID2</em> associated with cerebral tau deposition
bioRxiv : the preprint server for biology
Published

Isotope Encoded chemical Imaging Identifies Amyloid Plaque Age Dependent Structural Maturation, Synaptic Loss, and Increased Toxicity

Authors
Jack I Wood, Maciej Dulewicz, Junyue Ge, Katie Stringer, Alicja Szadziewska, Sneha Desai, Srinivas Koutarapu, Haady B Hajar, Kaj Blennow, Henrik Zetterberg, Damian M Cummings, Jeffrey N Savas, Frances A Edwards, Jörg Hanrieder
Isotope Encoded chemical Imaging Identifies Amyloid Plaque Age Dependent Structural Maturation, Synaptic Loss, and Increased Toxicity
JAMA network open
Published

Sex Differences in Frequency, Severity, and Distribution of Cerebral Microbleeds

Authors
Simon Fandler-Höfler, Sebastian Eppinger, Gareth Ambler, Philip Nash, Markus Kneihsl, Keon-Joo Lee, Jae-Sung Lim, Masayuki Shiozawa, Masatoshi Koga, Linxin Li, Caroline Lovelock, Hugues Chabriat, Michael Hennerici, Yuen Kwun Wong, Henry Ka Fung Mak, Luis Prats-Sanchez, Alejandro Martínez-Domeño, Shigeru Inamura, Kazuhisa Yoshifuji, Ethem Murat Arsava, Solveig Horstmann, Jan Purrucker, Bonnie Yin Ka Lam, Adrian Wong, Young Dae Kim, Tae-Jin Song, Robin Lemmens, Ender Uysal, Zeynep Tanriverdi, Natan M Bornstein, Einor Ben Assayag, Hen Hallevi, Jeremy Molad, Masashi Nishihara, Jun Tanaka, Shelagh B Coutts, Alexandros Polymeris, Benjamin Wagner, David J Seiffge, Philippe Lyrer, L Jaap Kappelle, Rustam Al-Shahi Salman, Maria Valdes Hernandez, Hans R Jäger, Gregory Y H Lip, Urs Fischer, Marwan El-Koussy, Jean-Louis Mas, Laurence Legrand, Christopher Karayiannis, Thanh Phan, Sarah Gunkel, Nicolas Christ, Jill Abrigo, Winnie Chu, Thomas Leung, Francesca Chappell, Stephen Makin, Derek Hayden, David J Williams, Werner H Mess, M Eline Kooi, Carmen Barbato, Simone Browning, Anil M Tuladhar, Noortje Maaijwee, Anne Cristine Guevarra, Anne-Marie Mendyk, Christine Delmaire, Sebastian Köhler, Robert van Oostenbrugge, Ying Zhou, Chao Xu, Saima Hilal, Caroline Robert, Christopher Chen, Min Lou, Julie Staals, Régis Bordet, Nagaendran Kandiah, Frank-Erik de Leeuw, Robert Simister, Daniel Bos, Peter J Kelly, Joanna Wardlaw, Yannie Soo, Felix Fluri, Velandai Srikanth, David Calvet, Simon Jung, Vincent I H Kwa, Stefan T Engelter, Nils Peters, Eric E Smith, Hideo Hara, Yusuke Yakushiji, Dilek Necioglu Orken, Vincent Thijs, Ji Hoe Heo, Vincent Mok, Roland Veltkamp, Hakan Ay, Toshio Imaizumi, Kui Kai Lau, Eric Jouvent, Peter M Rothwell, Kazunori Toyoda, Hee-Joon Bae, Joan Marti-Fabregas, Duncan Wilson, Jonathan Best, Franz Fazekas, Christian Enzinger, David J Werring, Thomas Gattringer, Microbleeds International Collaborative Network
Sex Differences in Frequency, Severity, and Distribution of Cerebral Microbleeds
Neuron
Published

Autophagy, aging, and age-related neurodegeneration

Authors
Jennifer E Palmer, Niall Wilson, Sung Min Son, Pawel Obrocki, Lidia Wrobel, Matea Rob, Michael Takla, Viktor I Korolchuk, David C Rubinsztein
Autophagy, aging, and age-related neurodegeneration