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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 genetics
Published

Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes

Authors
Alexander Haglund, Verena Zuber, Maya Abouzeid, Yifei Yang, Jeong Hun Ko, Liv Wiemann, Maria Otero-Jimenez, Louwai Muhammed, Rahel Feleke, Alexi Nott, James D Mills, Liisi Laaniste, Djordje O Gveric, Daniel Clode, Ann C Babtie, Susanna Pagni, Ravishankara Bellampalli, Alyma Somani, Karina McDade, Jasper J Anink, Lucia Mesarosova, Nurun Fancy, Nanet Willumsen, Amy Smith, Johanna Jackson, Javier Alegre-Abarrategui, Eleonora Aronica, Paul M Matthews, Maria Thom, Sanjay M Sisodiya, Prashant K Srivastava, Dheeraj Malhotra, Julien Bryois, Leonardo Bottolo, Michael R Johnson
Cell state-dependent allelic effects and contextual Mendelian randomization analysis for human brain phenotypes
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Menopausal hormone therapy is associated with worse levels of Alzheimer's disease biomarkers in APOE ε4-carrying women: An observational study

Authors
Ainara Jauregi-Zinkunegi, Carey E Gleason, Barbara Bendlin, Ozioma Okonkwo, Bruce P Hermann, Kaj Blennow, Henrik Zetterberg, Eef Hogervorst, Sterling C Johnson, Rebecca Langhough, Kimberly D Mueller, Davide Bruno
Menopausal hormone therapy is associated with worse levels of Alzheimer's disease biomarkers in APOE ε4-carrying women: An observational study
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Plasma p-tau<sub>217</sub> and neurofilament/p-tau<sub>217</sub> ratio in differentiating Alzheimer's disease from syndromes associated with frontotemporal lobar degeneration

Authors
Alberto Benussi, Hanna Huber, Kübra Tan, Valentina Cantoni, Jasmine Rivolta, Maria Sofia Cotelli, Andrea L Benedet, Kaj Blennow, Henrik Zetterberg, Nicholas J Ashton, Barbara Borroni
Plasma p-tau<sub>217</sub> and neurofilament/p-tau<sub>217</sub> ratio in differentiating Alzheimer's disease from syndromes associated with frontotemporal lobar degeneration
Nature communications
Published

Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo

Authors
Liam Kempthorne, Deniz Vaizoglu, Alexander J Cammack, Mireia Carcolé, Martha J Roberts, Alla Mikheenko, Alessia Fisher, Pacharaporn Suklai, Bhavana Muralidharan, François Kroll, Thomas G Moens, Lidia Yshii, Stijn Verschoren, Benedikt V Hölbling, Francisco C Moreira, Eszter Katona, Rachel Coneys, Paula de Oliveira, Yong-Jie Zhang, Karen Jansen, Lillian M Daughrity, Alexander McGown, Tennore M Ramesh, Ludo Van Den Bosch, Gabriele Lignani, Ahad A Rahim, Alyssa N Coyne, Leonard Petrucelli, Jason Rihel, Adrian M Isaacs
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo
Communications medicine
Published

Consuming a modified Mediterranean ketogenic diet reverses the peripheral lipid signature of Alzheimer's disease in humans

Authors
Bryan J Neth, Kevin Huynh, Corey Giles, Tingting Wang, Natalie A Mellett, Thy Duong, Colette Blach, Leyla Schimmel, Thomas C Register, Kaj Blennow, Henrik Zetterberg, Richa Batra, Annalise Schweickart, Amanda Hazel Dilmore, Cameron Martino, Matthias Arnold, Jan Krumsiek, Xianlin Han, Pieter C Dorrestein, Rob Knight, Peter J Meikle, Suzanne Craft, Rima Kaddurah-Daouk
Consuming a modified Mediterranean ketogenic diet reverses the peripheral lipid signature of Alzheimer's disease in humans
bioRxiv : the preprint server for biology
Published

Brain maps of general cognitive function and spatial correlations with neurobiological cortical profiles

Authors
Joanna E Moodie, Colin Buchanan, Anna Furtjes, Eleanor Conole, Aleks Stolicyn, Janie Corley, Karen Ferguson, Maria Valdes Hernandez, Susana Munoz Maniega, Tom C Russ, Michelle Luciano, Heather Whalley, Mark E Bastin, Joanna Wardlaw, Ian Deary, Simon Cox
Brain maps of general cognitive function and spatial correlations with neurobiological cortical profiles
Heliyon
Published

Spontaneous and perturbation-based EEG cortical excitability markers are associated with plasma p-tau181 concentration in healthy middle-aged adults

Authors
Ruben Perellón-Alfonso, Kilian Abellaneda-Pérez, Indre Pileckyte, María Cabello-Toscano, Lídia Mulet-Pons, Lídia Vaqué-Alcázar, Gabriele Cattaneo, María Redondo-Camós, Goretti España-Irla, Selma Delgado-Gallen, Javier Solana Sánchez, Henrik Zetterberg, Jose M Tormos, Nicolai Franzmeier, Alvaro Pascual-Leone, David Bartrés-Faz
Spontaneous and perturbation-based EEG cortical excitability markers are associated with plasma p-tau181 concentration in healthy middle-aged adults
Nature neuroscience
Published

Typical development of synaptic and neuronal properties can proceed without microglia in the cortex and thalamus

Authors
Mary O'Keeffe, Sam A Booker, Darren Walsh, Mosi Li, Chloe Henley, Laura Simões de Oliveira, Mingshan Liu, Xingran Wang, Maria Banqueri, Katherine Ridley, Kosala N Dissanayake, Cristina Martinez-Gonzalez, Kirsty J Craigie, Deepali Vasoya, Tom Leah, Xin He, David A Hume, Ian Duguid, Matthew F Nolan, Jing Qiu, David J A Wyllie, Owen R Dando, Alfredo Gonzalez-Sulser, Jian Gan, Clare Pridans, Peter C Kind, Giles E Hardingham
Typical development of synaptic and neuronal properties can proceed without microglia in the cortex and thalamus
Alzheimer's research & therapy
Published

Benchmarking Alzheimer's disease prediction: personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies

Authors
Eftychia Bellou, Woori Kim, Ganna Leonenko, Feifei Tao, Emily Simmonds, Ying Wu, Niklas Mattsson-Carlgren, Oskar Hansson, Michael W Nagle, Valentina Escott-Price, Alzheimer’s Disease Neuroimaging Initiative
Benchmarking Alzheimer's disease prediction: personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Basic Science and Pathogenesis

Authors
Regina T Vontell, Ayled Barreda, Kaj Blennow, Henrik Zetterberg, Juan Pablo de Rivero Vaccari, Helen M Bramlett, W Dalton Dietrich, Robert W Keane, David A Davis, Tatjana Rundek, Xiaoyan Sun
Basic Science and Pathogenesis
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Basic Science and Pathogenesis

Authors
Giulia Albertini, Magdalena Zielonka, Marie-Lynn Cuypers, Veerle van Lieshout, An Snellinx, Emanuela Pasciuto, Leen Wolfs, Katleen Craessaerts, Katrien Horré, Tom Jaspers, Mark Fiers, Maarten Dewilde, Bart De Strooper
Basic Science and Pathogenesis
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Basic Science and Pathogenesis

Authors
Jonathan Vöglein, Natalie S Ryan, Carlos Cruchaga, Priyanka Gorijala, Randall J Bateman, Eric McDade, Katrina L Paumier, Nigel J Cairns, Erin E Franklin, Chengjie Xiong, Mathias Jucker, Tammaryn Lashley, Thomas Arzberger, Jochen Herms, Richard J Perrin, Adrian Danek, Günter Höglinger, John C Morris, Nick C Fox, Johannes Levin
Basic Science and Pathogenesis
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Basic Science and Pathogenesis

Authors
Perlina Desai, Lorena Arancibia Carcamo, Bart De Strooper
Basic Science and Pathogenesis