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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. 

medRxiv : the preprint server for health sciences
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 Pm 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 Jc 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 Cm 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 Wjh 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 Ja 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
medRxiv : the preprint server for health sciences
Published

Gut-Brain Nexus: Mapping Multi-Modal Links to Neurodegeneration at Biobank Scale

Authors
Mohammad Shafieinouri, Samantha Hong, Artur Schuh, Mary B Makarious, Rodrigo Sandon, Paul Suhwan Lee, Emily Simmonds, Hirotaka Iwaki, Gracelyn Hill, Cornelis Blauwendraat, Valentina Escott-Price, Yue A Qi, Alastair J Noyce, Armando Reyes-Palomares, Hampton L Leonard, Malu Tansey, Anant Dadu, Faraz Faghri, Andrew Singleton, Mike A Nalls, Kristin S Levine, Sara Bandres-Ciga
Gut-Brain Nexus: Mapping Multi-Modal Links to Neurodegeneration at Biobank Scale
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting

Authors
Dhamidhu Eratne, Matthew J Y Kang, Courtney Lewis, Christa Dang, Charles B Malpas, Michael Keem, Jasleen Grewal, Vladimir Marinov, Amy Coe, Cath Kaylor-Hughes, Thomas Borchard, Chhoa Keng-Hong, Alexandra Waxmann, Burcu Saglam, Tomas Kalincik, Richard Kanaan, Wendy Kelso, Andrew Evans, Sarah Farrand, Samantha Loi, Mark Walterfang, Christiane Stehmann, Qiao-Xin Li, Steven Collins, Colin L Masters, Alexander F Santillo, Henrik Zetterberg, Kaj Blennow, Samuel F Berkovic, Dennis Velakoulis, MiND Study Group
Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting
Nature communications
Published

Plekhg5 controls the unconventional secretion of Sod1 by presynaptic secretory autophagy

Authors
Amy-Jayne Hutchings, Bita Hambrecht, Alexander Veh, Neha Jadhav Giridhar, Abdolhossein Zare, Christina Angerer, Thorben Ohnesorge, Maren Schenke, Bhuvaneish T Selvaraj, Siddharthan Chandran, Jared Sterneckert, Susanne Petri, Bettina Seeger, Michael Briese, Christian Stigloher, Thorsten Bischler, Andreas Hermann, Markus Damme, Michael Sendtner, Patrick Lüningschrör
Plekhg5 controls the unconventional secretion of Sod1 by presynaptic secretory autophagy
Nature reviews. Neurology
Published

Fluid biomarkers of chronic traumatic brain injury

Authors
Susanna Friberg, Caroline Lindblad, Frederick A Zeiler, Henrik Zetterberg, Tobias Granberg, Per Svenningsson, Fredrik Piehl, Eric P Thelin
Fluid biomarkers of chronic traumatic brain injury
Science (New York, N.Y.)
Published

Creation of de novo cryptic splicing for ALS and FTD precision medicine

Authors
Oscar G Wilkins, Max Z Y J Chien, Josette J Wlaschin, Simone Barattucci, Peter Harley, Francesca Mattedi, Puja R Mehta, Maria Pisliakova, Eugeni Ryadnov, Matthew J Keuss, David Thompson, Holly Digby, Lea Knez, Rebecca L Simkin, Juan Antinao Diaz, Matteo Zanovello, Anna-Leigh Brown, Annalucia Darbey, Rajvinder Karda, Elizabeth M C Fisher, Thomas J Cunningham, Claire E Le Pichon, Jernej Ule, Pietro Fratta
Creation of de novo cryptic splicing for ALS and FTD precision medicine
Stroke and vascular neurology
Published

Definitions of white matter hyperintensity change: impact on estimates of progression and regression

Authors
Angela C C Jochems, Susana Muñoz Maniega, Una Clancy, Carmen Arteaga Reyes, Daniela Jaime Garcia, Maria Del C Valdés Hernández, Francesca M Chappell, Gayle Barclay, Charlotte Jardine, Donna McIntyre, Iona Gerrish, Stewart Wiseman, Michael S Stringer, Michael J Thrippleton, Fergus Doubal, Joanna M Wardlaw
Definitions of white matter hyperintensity change: impact on estimates of progression and regression
Brain communications
Published

Persistent delirium is associated with cerebrospinal fluid markers of neuronal injury

Authors
Alex Tsui, Benjamin Johnstone, Amanda Heslegrave, Henrik Zetterberg, Leiv Otto Watne, Bjørn Erik Neerland, Maria Krogseth, Colm Cunningham, Alasdair MacLullich, Graciela Muniz Terrera, Daniel Davis, Gideon Caplan
Persistent delirium is associated with cerebrospinal fluid markers of neuronal injury
Nature medicine
Published

Increased frequency of repeat expansion mutations across different populations

Authors
Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J Hensman Moss, Jana Vandrovcova, Clarissa Rocca, Loukas Moutsianas, Chiara Marini-Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D Long, Pietro Fratta, Douglas R Langbehn, Sarah J Tabrizi, Mark J Caulfield, Andrea Cortese, Valentina Escott-Price, John Hardy, Henry Houlden, Andrew J Sharp, Arianna Tucci
Increased frequency of repeat expansion mutations across different populations
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Examination of plasma biomarkers of amyloid, tau, neurodegeneration, and neuroinflammation in former elite American football players

Authors
Annalise E Miner, Jenna R Groh, Yorghos Tripodis, Charles H Adler, Laura J Balcer, Charles Bernick, Henrik Zetterberg, Kaj Blennow, Elaine Peskind, Nicholas J Ashton, Charles E Gaudet, Brett Martin, Joseph N Palmisano, Sarah J Banks, William B Barr, Jennifer V Wethe, Robert C Cantu, David W Dodick, Douglas I Katz, Jesse Mez, Suzan van Amerongen, Jeffrey L Cummings, Martha E Shenton, Eric M Reiman, Robert A Stern, Michael L Alosco, DIAGNOSE CTE Research Project
Examination of plasma biomarkers of amyloid, tau, neurodegeneration, and neuroinflammation in former elite American football players
Nat Med
Published

Increased frequency of repeat expansion mutations across different populations.

Authors
Kristina Ibañez, Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini, Paras Garg, Alejandro Martin-Trujillo, Scott J Gies, Valentina Galassi Deforie, Anupriya Dalmia, Davina J Hensman Moss, Jana Vandrovcova, Clarissa Rocca, Loukas Moutsianas, Chiara Marini-Bettolo, Helen Walker, Chris Turner, Maryam Shoai, Jeffrey D Long, Pietro Fratta, Douglas R Langbehn, Sarah J Tabrizi, Mark J Caulfield, Andrea Cortese, Valentina Escott-Price, John Hardy, Henry Houlden, Andrew J Sharp, Arianna Tucci
Increased frequency of repeat expansion mutations across different populations.
Nature communications
Published

NEAT1 modulates the TIRR/53BP1 complex to maintain genome integrity

Authors
Susan Kilgas, Aleem Syed, Patrick Toolan-Kerr, Michelle L Swift, Shrabasti Roychoudhury, Aniruddha Sarkar, Sarah Wilkins, Mikayla Quigley, Anna R Poetsch, Maria Victoria Botuyan, Gaofeng Cui, Georges Mer, Jernej Ule, Pascal Drané, Dipanjan Chowdhury
NEAT1 modulates the TIRR/53BP1 complex to maintain genome integrity
BMC geriatrics
Published

Experiences with home monitoring technology in older adults with traumatic brain injury: a qualitative study

Authors
Megan E Parkinson, Rebecca M Smith, Karen Tanious, Francesca Curtis, Rebecca Doherty, Lorena Colon, Lucero Chena, Sophie C Horrocks, Matthew Harrison, Michael B Fertleman, Melanie Dani, Payam Barnaghi, David J Sharp, UK Dementia Research Institute Care Research & Technology Research Group, Lucia M Li
Experiences with home monitoring technology in older adults with traumatic brain injury: a qualitative study
Practical neurology
Published

Repeat expansion disorders

Authors
Zhongbo Chen, Huw R Morris, James Polke, Nicholas W Wood, Sonia Gandhi, Mina Ryten, Henry Houlden, Arianna Tucci
Repeat expansion disorders