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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 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
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
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
EClinicalMedicine
Published
Changes in memory and cognition during the SARS-CoV-2 human challenge study.
Authors
William Trender, Peter J Hellyer, Ben Killingley, Mariya Kalinova, Alex J Mann, Andrew P Catchpole, David Menon, Edward Needham, Ryan Thwaites, Christopher Chiu, Gregory Scott, Adam Hampshire
Changes in memory and cognition during the SARS-CoV-2 human challenge study.
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.
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
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
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