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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. 

The Lancet regional health. Europe
Published

Fluid biomarkers in multiple sclerosis: from current to future applications

Authors
Massimiliano Di Filippo, Lorenzo Gaetani, Diego Centonze, Harald Hegen, Jens Kuhle, Charlotte E Teunissen, Mar Tintoré, Luisa M Villar, Eline A J Willemse, Henrik Zetterberg, Lucilla Parnetti
Fluid biomarkers in multiple sclerosis: from current to future applications
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published

Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up

Authors
Merete Wik-Klokk, Magnhild Rasmussen, Kristin Ørstavik, Henrik Zetterberg, Milada Hagen, Marie Elizabeth Holtebekk, Anette Ramm-Pettersen, Sean Wallace
Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up
European journal of neurology
Published

Plasma phosphorylated tau181 outperforms [<sup>18</sup>F] fluorodeoxyglucose positron emission tomography in the identification of early Alzheimer disease

Authors
Kely Monica Quispialaya, Joseph Therriault, Antonio Aliaga, Cécile Tissot, Stijn Servaes, Nesrine Rahmouni, Thomas K Karikari, Andrea L Benedet, Nicholas J Ashton, Arthur C Macedo, Firoza Z Lussier, Jenna Stevenson, Yi-Ting Wang, Jaime Fernandez Arias, Ali Hosseini, Takashi Matsudaira, Bertrand Jean-Claude, Brian M Gilfix, Eduardo R Zimmer, Jean-Paul Soucy, Tharick A Pascoal, Serge Gauthier, Henrik Zetterberg, Kaj Blennow, Pedro Rosa-Neto, Alzheimer's Disease Neuroimaging Initiative
Plasma phosphorylated tau181 outperforms [<sup>18</sup>F] fluorodeoxyglucose positron emission tomography in the identification of early Alzheimer disease
Neurology
Published

Prevalence and Clinical Implications of Hemosiderin Deposits in Recent Small Subcortical Infarcts

Authors
Yu-Yuan Xu, Francesca M Chappell, Maria Del C Valdés Hernández, Carmen Arteaga-Reyes, Una Clancy, Daniela Jaime Garcia, Stewart Wiseman, Michael S Stringer, Michael Thrippleton, Yajun Cheng, Junfang Zhang, Xiaodi Liu, Angela C C Jochems, Fergus Doubal, Joanna M Wardlaw, MSS3 Study Group
Prevalence and Clinical Implications of Hemosiderin Deposits in Recent Small Subcortical Infarcts
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
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
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
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