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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. 

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
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
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
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
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
Brain communications
Published
CSF biomarkers are differentially linked to brain areas high and low in noradrenaline, dopamine and serotonin across the Alzheimer's disease spectrum
Authors
Lena Haag, Elisa Lancini, Renat Yakupov, Gabriel Ziegler, Yeo-Jin Yi, Falk Lüsebrink, Wenzel Glanz, Oliver Peters, Eike Jakob Spruth, Slawek Altenstein, Josef Priller, Luisa Sophie Schneider, Xiao Wang, Lukas Preis, Frederic Brosseron, Nina Roy-Kluth, Klaus Fliessbach, Michael Wagner, Steffen Wolfsgruber, Luca Kleineidam, Alfredo Ramirez, Annika Spottke, Frank Jessen, Jens Wiltfang, Anja Schneider, Niels Hansen, Ayda Rostamzadeh, Katharina Buerger, Michael Ewers, Robert Perneczky, Daniel Janowitz, Boris-Stephan Rauchmann, Stefan Teipel, Ingo Kilimann, Doreen Goerss, Christoph Laske, Matthias H Munk, Michael Heneka, Peter Dechent, Stefan Hetzer, Klaus Scheffler, Emrah Düzel, Matthew J Betts, Dorothea Hämmerer
CSF biomarkers are differentially linked to brain areas high and low in noradrenaline, dopamine and serotonin across the Alzheimer's disease spectrum
Nature medicine
Published
Phospho-tau serine-262 and serine-356 as biomarkers of pre-tangle soluble tau assemblies in Alzheimer's disease
Authors
Tohidul Islam, Emily Hill, Eric E Abrahamson, Stijn Servaes, Denis S Smirnov, Xuemei Zeng, Anuradha Sehrawat, Yijun Chen, Przemysław R Kac, Hlin Kvartsberg, Maria Olsson, Emma Sjons, Fernando Gonzalez-Ortiz, Joseph Therriault, Cécile Tissot, Ivana Del Popolo, Nesrine Rahmouni, Abbie Richardson, Victoria Mitchell, Henrik Zetterberg, Tharick A Pascoal, Tammaryn Lashley, Mark J Wall, Douglas Galasko, Pedro Rosa-Neto, Milos D Ikonomovic, Kaj Blennow, Thomas K Karikari
Phospho-tau serine-262 and serine-356 as biomarkers of pre-tangle soluble tau assemblies in Alzheimer's disease
Glia
Published
The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes
Authors
Vidya Ramesh, Eleni Tsoukala, Ioanna Kougianou, Zrinko Kozic, Karen Burr, Biju Viswanath, David Hampton, David Story, Bharath Kumar Reddy, Rakhi Pal, Owen Dando, Peter C Kind, Sumantra Chattarji, Bhuvaneish T Selvaraj, Siddharthan Chandran, Lida Zoupi
The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes
Kidney international
Published
Mitochondrial dysfunction and mitophagy blockade contribute to renal osteodystrophy in chronic kidney disease-mineral bone disorder
Authors
Shun-Neng Hsu, Louise A Stephen, Kanchan Phadwal, Scott Dillon, Roderick Carter, Nicholas M Morton, Ineke Luijten, Katie Emelianova, Anish K Amin, Vicky E Macrae, Tom C Freeman, Yu-Juei Hsu, Katherine A Staines, Colin Farquharson
Mitochondrial dysfunction and mitophagy blockade contribute to renal osteodystrophy in chronic kidney disease-mineral bone disorder
Brain, behavior, and immunity
Published
Regional brain structural alterations in reward and salience networks in asthma
Authors
Danielle Carrol, William W Busse, Corrina J Frye, Danika R Klaus, Julia C Bach, Heather Floerke, Barbara B Bendlin, Henrik Zetterberg, Kaj Blennow, Amanda Heslegrave, Rachel Hoel, Melissa A Rosenkranz
Regional brain structural alterations in reward and salience networks in asthma
Synapse (New York, N.Y.)
Published
Synaptosomal-Associated Protein 25 kDA (SNAP-25) Levels in Cerebrospinal Fluid: Implications for Alzheimer's Disease Diagnosis and Monitoring
Authors
Sofia Hjorth Wolner, Helena Sophia Gleerup, Christian Sandøe Musaeus, Peter Høgh, Nicholas J Ashton, Ann Brinkmalm, Johanna Nilsson, Lana Grötschel, Henrik Zetterberg, Kaj Blennow, Steen Gregers Hasselbalch, Anne Byriel Walls, Anja Hviid Simonsen
Synaptosomal-Associated Protein 25 kDA (SNAP-25) Levels in Cerebrospinal Fluid: Implications for Alzheimer's Disease Diagnosis and Monitoring