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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 medicine
Published

Oral splicing modulator branaplam in Huntington's disease: a phase 2 randomized controlled trial

Authors
Beth Borowsky, Harry Ramos, Angelika Caputo, Andreas Hartmann, Thomas Faller, Thomas Peters, Yihan Sui, Fonda Liu, Mark Meadowcroft, Olivier J David, Marc Laisney, Arvind Kinhikar, Karen S Marder, Sarah J Tabrizi, G Bernhard Landwehrmeyer, Blair R Leavitt
Oral splicing modulator branaplam in Huntington's disease: a phase 2 randomized controlled trial
medRxiv : the preprint server for health sciences
Published

Identification of common variants influencing risk of the three-repeat tauopathy Pick's disease: a genome wide association study

Authors
William J Scotton, Rebecca R Valentino, Alejandro Martinez-Carrasco, Raquel Real, Hannah L Macpherson, Nicole Tamvaka, Kin Mok, Michael G Heckman, Christopher Kobylecki, Valentina Escott-Price, James B Rowe, Huw R Morris, Rosa Rademakers, Shanu F Roemer, Tammaryn Lashley, Dennis W Dickson, Jonathan D Rohrer, John A Hardy, Owen A Ross, Maryam Shoai
Identification of common variants influencing risk of the three-repeat tauopathy Pick's disease: a genome wide association study
medRxiv : the preprint server for health sciences
Published

Shared genetic architecture of brain age gap across 30 cohorts worldwide

Authors
Vilte Baltramonaityte, Philippe Jawinski, Marlene Staginnus, Mina Shahisavandi, Boglarka Z Kovacs, Isabel K Schuurmans, Constantinos Constantinides, Ahmad R Hariri, Alexander Teumer, Amanda L Rodrigue, Ami Tsuchida, Amirhossein Manzouri, Andriana Karuk, Anna E Fürtjes, Annalisa Lella, Annchen R Knodt, Antonia Jüllig, Avshalom Caspi, Benedicto Crespo-Facorro, Brenda Wjh Penninx, Catharina Lavebratt, Christine Lochner, Clarissa L Yasuda, Dag Alnæs, Dan J Stein, Daniel H Mathalon, David C Glahn, Dennis Klose, Dylan J Kiltschewskij, Edith Pomarol-Clotet, Estela M Bruxel, Fabrice Crivello, Fernando Cendes, Gail Davies, Giovanni A Salum, Hans J Grabe, Heather J Zar, Henning Tiemeier, Henry Völzke, Hervé Lemaître, Iscia Lopes-Cendes, Ítalo Karmann Aventurato, Jean Shin, Jessica A Turner, Joanna M Wardlaw, John Blangero, Jonathan C Ipser, Judith M Ford, Kang Sim, Karen Sugden, Katharina Wittfeld, Kristina Salontaji, Kristoffer Nt Månsson, L Elliot Hong, Lars T Westlye, Lianne Schmaal, Lucas T Ito, Lucas Scárdua-Silva, Marcos L Santoro, María Alemany-Navarro, Mark E Bastin, Mary S Mufford, Melissa J Green, Murray J Cairns, Nadine Parker, Nathaniel W McGregor, Ole A Andreassen, Oliver Gruber, Oliver J Watkeys, Pedro M Pan, Peter Kochunov, Qian Hui Chew, Rafael Romero-Garcia, Raymond Salvador, Reremoana Theodore, Richie Poulton, Robin Bülow, Rodrigo A Bressan, Ryan L Muetzel, Sebastian Markett, Serena Defina, Sheri-Michelle Koopowitz, Shir Dahan, Simon R Cox, Sintia Belangero, So M Vijayakumar Kamalakannan, Sophia I Thomopoulos, Stefan Frenzel, Terrie E Moffitt, Theo Gm van Erp, Tomas Furmark, Tomas Paus, Uwe Völker, Vince D Calhoun, Yann Quidé, Younghwa Lee, Yuri Milaneschi, Zdenka Pausova, Paul M Thompson, Laura Km Han, Jean-Baptiste Pingault, James H Cole, Charlotte Am Cecil, Sarah E Medland, Danai Dima, Esther Walton
Shared genetic architecture of brain age gap across 30 cohorts worldwide
Journal of the American Heart Association
Published

Cardiovascular Risk as a Moderator of the Relationship Between Plasma Alzheimer Disease Biomarkers and Cognitive Status

Authors
Angelina K Kancheva, Donald M Lyall, Kamen A Tsvetanov, Ivana K Kancheva, Kalliopi Mavromati, Ivan Koychev, Benjamin Tari, Daniela J Garcia, Lynne Hughes, Joanna M Wardlaw, Terence J Quinn
Cardiovascular Risk as a Moderator of the Relationship Between Plasma Alzheimer Disease Biomarkers and Cognitive Status
Human gene therapy
Published

Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration

Authors
Wenfei Liu, Amy F Geard, Giulia Massaro, Michael P Hughes, Mikel Aristorena, Oliver Coombe-Tennant, Liangyuan Xu, Olha Semenyuk, Reuben Bush, Danielle Te Vruchte, David Priestman, Rhiannon Laban, Elena Veleva, Amanda J Heslegrave, Henrik Zetterberg, Frances M Platt, Alexander J Smith, Sara E Mole, Robin R Ali, Ahad A Rahim
Brain-Directed AAV Gene Therapy Rescues a Mouse Model of the CLN5 Form of Neuronal Ceroid Lipofuscinosis Disease and Normalizes a Blood Plasma Biomarker of Neurodegeneration
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Drug Development

Authors
Cynthia M Carlsson, Hannah Zylstra, Kate Cronin, Aleshia Cole, Elena Beckman, Allison C Eierman, Rachael E Wilson, Richard J Chappell, Carey E Gleason, Henrik Zetterberg, Sterling C Johnson, Sanjay Asthana, Carol A Van Hulle
Drug Development
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Dementia Care Research and Psychosocial Factors

Authors
Jonas Botz, Anna-Katharine Brem, Zunera Khan, Spiros Nikolopoulos, Dag Aarsland, Holger Fröhlich, PREDICTOM Consortium
Dementia Care Research and Psychosocial Factors
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Biomarkers

Authors
Alena Marie Smith, Sara A Lorkiewicz, Laia Montoliu-Gaya, Ted N Wilson, Nicholas Ashton, Burak Arslan, Melanie J Plastini, Christina B Young, Joseph R Winer, Marian Shahid, Hillary Vossler, Veronica Ramirez, Tianyu Pan, Geoffrey A Kerchner, Katrin I Andreasson, Victor W Henderson, Thomas J Montine, Lu Tian, Elizabeth C Mormino, Henrik Zetterberg, Kathleen L Poston, Carla Abdelnour
Biomarkers
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Biomarkers

Authors
Hamilton Se-Hwee Oh, Deniz Yagmur Urey, Linda Karlsson, Zeyu Zhu, Yuanyuan Shen, Amelia Farinas, Jigyasha Timsina, Michael R Duggan, Jingsha Chen, Ian H Guldner, Nader Morshed, Chengran Yang, Daniel Western, Muhammad Ali, Yann Le Guen, Alexandra N Trelle, Sanna-Kaisa Herukka, Tuomas Rauramaa, Mikko Hiltunen, Anssi Lipponen, Antti J Luikku, Kathleen L Poston, Elizabeth C Mormino, Anthony D Wagner, Ted N Wilson, Divya Channappa, Ville Leinonen, Beth Stevens, Alexander J Ehrenberg, Rebecca F Gottesman, Josef Coresh, Keenan A Walker, Henrik Zetterberg, David A A Bennett, Nicolai Franzmeier, Oskar Hansson, Carlos Cruchaga, Tony Wyss-Coray
Biomarkers
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

APOE ɛ4 carriership determines a faster plasma p-tau217 progression in Aβ-positive individuals

Authors
Marcel S Woo, Arthur C Macedo, Seyyed Ali Hosseini, Joseph Therriault, Yi-Ting Wang, Nesrine Rahmouni, Étienne Aumont, Stijn Servaes, Cécile Tissot, Jaime Fernandez-Arias, Lydia Trudel, Brandon Hall, Gleb Bezgin, Kely Quispialaya-Socualaya, Marina Goncalves, Tevy Chan, Jenna Stevenson, Yansheng Zheng, Robert Hopewell, Stuart Mitchell, Firoza Z Lussier, Alzheimer's Disease Neuroimaging Initiative (ADNI), Paolo Vitali, Gassan Massarweh, Jean-Paul Soucy, Andréa L Benedet, Serge Gauthier, Henrik Zetterberg, Kaj Blennow, Tharick A Pascoal, Pedro Rosa-Neto
APOE ɛ4 carriership determines a faster plasma p-tau217 progression in Aβ-positive individuals
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Dementia Care Research and Psychosocial Factors

Authors
Martin Tran, Thomas Adam, Raphaella Jackson, Rory Cave, Alexander Webb, Richard Kelwick, Michael Crone, Sophie Horrocks, Matthew Harrison, Kirsten Jensen, Paul Freemont
Dementia Care Research and Psychosocial Factors
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Clinical Manifestations

Authors
Nicholas Magill, Christopher S Parker, Chloe Young, Rachana Tank, Damien Ferguson, Duncan Alston, Helen Rice, Antoinette O'Connor, Ian B Malone, Kirsty Lu, Sebastian J Crutch, Nick C Fox, Philip Sj Weston
Clinical Manifestations
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Dementia Care Research and Psychosocial Factors

Authors
Jonas Botz, Anna-Katharine Brem, Dag Aarsland, Holger Fröhlich, PREDICTOM Consortium
Dementia Care Research and Psychosocial Factors
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Biomarkers

Authors
Lauren Young, Declan King, Ya Yin Chang, Kristjan Holt, Scott Gladstein, Sjoerd J Finnema, Tara L Spires-Jones
Biomarkers
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Cerebrospinal fluid proteome alterations related to depressive symptoms in cognitive decline and Alzheimer's disease

Authors
Miriam Rabl, Willem L Hartog, Wiesje M van der Flier, Yolande A L Pijnenburg, Charlotte E Teunissen, Magda Tsolaki, Yvonne Freund-Levi, Rik Vandenberghe, Lutz Froelich, Johannes Streffer, Simon Lovestone, Lars Bertram, Henrik Zetterberg, Johan Gobom, Stephanie J B Vos, Pieter Jelle Visser, Betty M Tijms, Julius Popp
Cerebrospinal fluid proteome alterations related to depressive symptoms in cognitive decline and Alzheimer's disease
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Dementia Care Research and Psychosocial Factors

Authors
Elizabeth A English, Sindhuja Tirumalai Govindarajan, Joshua Babalola, Sara Laureen Bartels, Nathan M D'Cunha, Shloka Dhareshwar, Charlèss Dupont, C Elizabeth Shaaban
Dementia Care Research and Psychosocial Factors