Skip to main content
Search
Main content

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. 

Research square
Published

Isotope Encoded Spatial Biology Identifies Amyloid Plaque-Age-Dependent Structural Maturation, Synaptic Loss, and Increased Toxicity

Authors
Jack I Wood, Maciej Dulewicz, Junyue Ge, Katie Stringer, Alicja Szadziewska, Sneha Desai, Srinivas Koutarapu, Haady B Hajar, Lydia Fenson, Kaj Blennow, Henrik Zetterberg, Damian M Cummings, Jeffrey N Savas, Frances A Edwards, Jörg Hanrieder
Isotope Encoded Spatial Biology Identifies Amyloid Plaque-Age-Dependent Structural Maturation, Synaptic Loss, and Increased Toxicity
medRxiv : the preprint server for health sciences
Published

Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort

Authors
Moritz Berger, Hector Garcia-Moreno, Monica Ferreira, Jeannette Hubener-Schmid, Tamara Schaprian, Philipp Wegner, Tim Elter, Kennet Teichmann, Magda M Santana, Marcus Grobe-Einsler, Demet Onder, Berkan Koyak, Sarah Bernsen, Luís Pereira de Almeida, Patrick Silva, Joana Afonso Ribeiro, Inês Cunha, Cristina Gonzalez-Robles, Shamsher Khan, Amanda Heslegrave, Henrik Zetterberg, Manuela Lima, Mafalda Raposo, Ana F Ferreira, João Vasconcelos, Bart P van de Warrenburg, Judith van Gaalen, Teije H van Prooije, Jeroen de Vries, Ludger Schols, Olaf Riess, Matthis Synofzik, Dagmar Timmann, Andreas Thieme, Friedrich Erdlenbruch, Jon Infante, Ana Lara Pelayo, Leire Manrique, Kathrin Reetz, Imis Dogan, Gulin Oz, James M Joers, Khalaf Bushara, Chiadikaobi Onyike, Michal Povazan, Heike Jacobi, Jeremy D Schmahmann, Eva-Maria Ratai, Matthias Schmid, Paola Giunti, Thomas Klockgether, Jennifer Faber
Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort
medRxiv : the preprint server for health sciences
Published

Safety and efficacy of long-term gantenerumab treatment in dominantly inherited Alzheimer's disease: an open label extension of the phase 2/3 multicentre, randomised, double-blind, placebo-controlled platform DIAN-TU Trial

Authors
Randall J Bateman, Yan Li, Eric M McDade, Jorge J Llibre-Guerra, David B Clifford, Alireza Atri, Susan L Mills, Anna M Santacruz, Guoqiao Wang, Charlene Supnet, Tammie L S Benzinger, Brian A Gordon, Laura Ibanez, Gregory Klein, Monika Baudler, Rachelle S Doody, Paul Delmar, Geoffrey A Kerchner, Tobias Bittner, Jakub Wojtowicz, Azad Bonni, Paulo Fontoura, Carsten Hofmann, Luka Kulic, Jason Hassenstab, Andrew J Aschenbrenner, Richard J Perrin, Carlos Cruchaga, Alan E Renton, Chengjie Xiong, Alison A Goate, John C Morris, David M Holtzman, B Joy Snider, Catherine Mummery, William S Brooks, David Wallon, Sarah B Berman, Erik Roberson, Colin L Masters, Douglas R Galasko, Suman Jayadev, Rachel Sanchez-Valle, Jeremie Pariente, Justin Kinsella, Christopher H van Dyck, Serge Gauthier, Ging-Yuek Robin Hsiung, Mario Masellis, Bruno Dubois, Lawrence S Honig, Clifford R Jack, Alisha Daniels, David Aguillón, Ricardo Allegri, Jasmeer Chhatwal, Gregory Day, Nick Fox, Edward Huey, Takeshi Ikeuchi, Mathias Jucker, Jae-Hong Lee, Allan I Levey, Johannes Levin, Francisco Lopera, JeeHoon Roh, Pedro Rosa-Neto, Peter R Schofield, Dominantly Inherited Alzheimer’s Disease-Trials Unit
Safety and efficacy of long-term gantenerumab treatment in dominantly inherited Alzheimer's disease: an open label extension of the phase 2/3 multicentre, randomised, double-blind, placebo-controlled platform DIAN-TU Trial
Brain and behavior
Published

The Role of the VWF/ADAMTS13 Axis in the Thromboinflammatory Response in Ischemic Stroke After SARS-CoV2 Infection

Authors
Nadim Luka, Kieron South, Rachel Jones, Amanda J Unsworth, Graham Coutts, Ioana-Emilia Mosneag, Mehwish Younas, Amy Bradley, Siew Yan Wong, Ellen Collins, Chloe Quigley, Sean B Knight, Barry W McColl, Laura McCulloch, John R Grainger, Craig J Smith, Stuart M Allan
The Role of the VWF/ADAMTS13 Axis in the Thromboinflammatory Response in Ischemic Stroke After SARS-CoV2 Infection
medRxiv : the preprint server for health sciences
Published

The association of umbilical cord blood neurofilament light with non-reassuring fetal status: a prospective observational study

Authors
David Zalcberg, Kaitlin Kramer, Emma Payne, Thomas Payne, Shreeya Marathe, Neha Mahajan, Ashly Liu, Jessica Barry, Andrew Duckworth, Mitchell Brookes, Bradley de Vries, Fernando Gonzalez-Ortiz, Kaj Blennow, Henrik Zetterberg, Adrienne Gordon, Benjamin Moran, Helen Manning, Robert D Sanders
The association of umbilical cord blood neurofilament light with non-reassuring fetal status: a prospective observational study
Journal of Huntington's disease
Published

Study protocol for the iMarkHD study in individuals with Huntington's disease

Authors
Daniel J van Wamelen, Naomi H Martin, Orsolya Makos, James Badenoch, Jose Manuel Valera-Bermejo, Monika Hartmann, Alay Rangel Cristales, Tobias C Wood, Mattia Veronese, Manuela Moretto, Fernando Zelaya, Flavio dell'Acqua, Owen O'Daly, David J Lythgoe, Cedric Ginestet, Federico Turkheimer, Nikki Palasits, Ladislav Mrzljak, John H Warner, Eugenii A Rabiner, Roger Gunn, Sarah J Tabrizi, Cristina Sampaio, Andrew Wood, Steven Cr Williams
Study protocol for the iMarkHD study in individuals with Huntington's disease
Alzheimer's research & therapy
Published

The impact of kidney function on Alzheimer's disease blood biomarkers: implications for predicting amyloid-β positivity

Authors
Burak Arslan, Wagner S Brum, Ilaria Pola, Joseph Therriault, Nesrine Rahmouni, Jenna Stevenson, Stijn Servaes, Kübra Tan, Paolo Vitali, Maxime Montembeault, Jesse Klostranec, Arthur C Macedo, Cecile Tissot, Serge Gauthier, Juan Lantero-Rodriguez, Eduardo R Zimmer, Kaj Blennow, Henrik Zetterberg, Pedro Rosa-Neto, Andrea L Benedet, Nicholas J Ashton
The impact of kidney function on Alzheimer's disease blood biomarkers: implications for predicting amyloid-β positivity
Alzheimer's research & therapy
Published

Sex differences in the association of Alzheimer's disease biomarkers and cognition in a multicenter memory clinic study

Authors
Cecilia Boccalini, Debora Elisa Peretti, Max Scheffler, Linjing Mu, Alessandra Griffa, Nathalie Testart, Gilles Allali, John O Prior, Nicholas J Ashton, Henrik Zetterberg, Kaj Blennow, Giovanni B Frisoni, Valentina Garibotto
Sex differences in the association of Alzheimer's disease biomarkers and cognition in a multicenter memory clinic study
Nature genetics
Published

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

Authors
Rafik Tadros, Sean L Zheng, Christopher Grace, Paloma Jordà, Catherine Francis, Dominique M West, Sean J Jurgens, Kate L Thomson, Andrew R Harper, Elizabeth Ormondroyd, Xiao Xu, Pantazis I Theotokis, Rachel J Buchan, Kathryn A McGurk, Francesco Mazzarotto, Beatrice Boschi, Elisabetta Pelo, Michael Lee, Michela Noseda, Amanda Varnava, Alexa M C Vermeer, Roddy Walsh, Ahmad S Amin, Marjon A van Slegtenhorst, Nicole M Roslin, Lisa J Strug, Erika Salvi, Chiara Lanzani, Antonio de Marvao, Hypergenes InterOmics Collaborators, Jason D Roberts, Maxime Tremblay-Gravel, Genevieve Giraldeau, Julia Cadrin-Tourigny, Philippe L L'Allier, Patrick Garceau, Mario Talajic, Sarah A Gagliano Taliun, Yigal M Pinto, Harry Rakowski, Antonis Pantazis, Wenjia Bai, John Baksi, Brian P Halliday, Sanjay K Prasad, Paul J R Barton, Declan P O'Regan, Stuart A Cook, Rudolf A de Boer, Imke Christiaans, Michelle Michels, Christopher M Kramer, Carolyn Y Ho, Stefan Neubauer, HCMR Investigators, Paul M Matthews, Arthur A M Wilde, Jean-Claude Tardif, Iacopo Olivotto, Arnon Adler, Anuj Goel, James S Ware, Connie R Bezzina, Hugh Watkins
Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy
JAMA neurology
Published

Temporal Dynamics and Biological Variability of Alzheimer Biomarkers

Authors
Jihwan Yun, Daeun Shin, Eun Hye Lee, Jun Pyo Kim, Hongki Ham, Yuna Gu, Min Young Chun, Sung Hoon Kang, Hee Jin Kim, Duk L Na, Chi-Hun Kim, Ko Woon Kim, Si Eun Kim, Yeshin Kim, Jaeho Kim, Na-Yeon Jung, Yeo Jin Kim, Soo Hyun Cho, Henrik Zetterberg, Kaj Blennow, Fernando Gonzalez-Ortiz, Nicholas J Ashton, Joseph Therriault, Nesrine Rahmouni, Pedro Rosa-Neto, Michael W Weiner, Sang Won Seo, Hyemin Jang, ADNI, TRIAD, and K-ROAD study groups
Temporal Dynamics and Biological Variability of Alzheimer Biomarkers
Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin
Published

Inferring transmission risk of respiratory viral infection from the viral load kinetics of SARS-CoV-2, England, 2020 to 2021 and influenza A virus, Hong Kong, 2008 to 2012

Authors
Jakob Jonnerby, Joe Fenn, Seran Hakki, Jie Zhou, Kieran J Madon, Aleksandra Koycheva, Sean Nevin, Rhia Kundu, Michael A Crone, Timesh D Pillay, Shazaad Ahmad, Nieves Derqui, Emily Conibear, Robert Varro, Constanta Luca, Paul S Freemont, Graham P Taylor, Maria Zambon, Wendy S Barclay, Jake Dunning, Neil M Ferguson, Benjamin J Cowling, Ajit Lalvani, ATACCC Study Investigators
Inferring transmission risk of respiratory viral infection from the viral load kinetics of SARS-CoV-2, England, 2020 to 2021 and influenza A virus, Hong Kong, 2008 to 2012
Nature aging
Published

Soluble cerebral Aβ protofibrils link Aβ plaque pathology to changes in CSF Aβ<sub>42</sub>/Aβ<sub>40</sub> ratios, neurofilament light and tau in Alzheimer's disease model mice

Authors
Emelie Andersson, Nils Lindblom, Shorena Janelidze, Gemma Salvadó, Eleni Gkanatsiou, Linda Söderberg, Christer Möller, Lars Lannfelt, Junyue Ge, Jörg Hanrieder, Kaj Blennow, Tomas Deierborg, Niklas Mattsson-Carlgren, Henrik Zetterberg, Gunnar Gouras, Oskar Hansson
Soluble cerebral Aβ protofibrils link Aβ plaque pathology to changes in CSF Aβ<sub>42</sub>/Aβ<sub>40</sub> ratios, neurofilament light and tau in Alzheimer's disease model mice
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Remote cognitive tests predict neurodegenerative biomarkers in the Insight 46 cohort

Authors
Martina Del Giovane, Valentina Giunchiglia, Ziyuan Cai, Marguerite Leoni, Rebecca Street, Kirsty Lu, Andrew Wong, Maria Popham, Jennifer M Nicholas, William Trender, Peter J Hellyer, Thomas D Parker, Heidi Murray-Smith, David M Cash, Josephine Barnes, Carole H Sudre, Paresh A Malhotra, Sebastian J Crutch, Marcus Richards, Adam Hampshire, Jonathan M Schott
Remote cognitive tests predict neurodegenerative biomarkers in the Insight 46 cohort
Science translational medicine
Published

Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neurons

Authors
Emma L Bunting, Jasmine Donaldson, Sarah A Cumming, Jessica Olive, Elizabeth Broom, Mihai Miclăuș, Joseph Hamilton, Matthew Tegtmeyer, Hien T Zhao, Jonathan Brenton, Won-Seok Lee, Robert E Handsaker, Susan Li, Brittany Ford, Mina Ryten, Steven A McCarroll, Holly B Kordasiewicz, Darren G Monckton, Gabriel Balmus, Michael Flower, Sarah J Tabrizi
Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neurons
Brain : a journal of neurology
Published

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Authors
Andrea Cortese, Maike F Dohrn, Riccardo Curro, Sara Negri, Petra Lassuthova, Chiara Pisciotta, Stefano Tozza, Abdullah Al-Ajmi, Changyoung Feng, Pedro J Tomaselli, Gorka Fernandez-Eulate, Saif Haddad, Matilde Laurà, Alexander M Rossor, Elisa Vegezzi, Stefano Facchini, James N Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerova, Helena F Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D Obermaier, Natalie Winter, Peter D Creigh, Janet E Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James K L Holt, Kathryn M Brennan, Rivka Sukenik-Halevy, Varoona Bizaoui, Yesim Parman, Esra Battaloglu, Arman Cakar, Hadil Alrohaif, Simon Hammans, Kishore R Kumar, Marina L Kennerson, Hülya Kayserili, Defne A Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C Previtali, Yi-Chung Lee, Ayşe N Başak, Sherifa A Hamed, Ricardo Rojas-Garcia, Kristl G Claeys, Wilson Marques, Teresa Sevilla, Beate Schlotter-Weigel, Fiore Manganelli, Ruxu Zhang, David N Herrmann, Steven S Scherer, Pavel Seeman, Davide Pareyson, Mary M Reilly, Michael E Shy, Stephan Züchner
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Predicting survival rate by plasma biomarkers and clinical variables in syndromes associated with frontotemporal lobar degeneration

Authors
Maria Sofia Cotelli, Barbara Tarantino, Kübra Tan, Hanna Huber, Valentina Cantoni, Valeria Bracca, Roberto Gasparotti, Enrico Premi, Giancarlo Logroscino, Andrea L Benedet, Kaj Blennow, Henrik Zetterberg, Mario Grassi, Nicholas J Ashton, Barbara Borroni
Predicting survival rate by plasma biomarkers and clinical variables in syndromes associated with frontotemporal lobar degeneration