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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. 

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

Polygenic scores for disease risk are not associated with clinical outcomes in Parkinson's disease

Authors
Manuela Mx Tan, Hirotaka Iwaki, Sara Bandres-Ciga, Yuri Sosero, Maryam Shoai, Kathrin Brockmann, Nigel M Williams, Roy N Alcalay, Jodi Maple-Grødem, Guido Alves, Ole-Bjørn Tysnes, Peggy Auinger, Shirley Eberly, Peter Heutink, David K Simon, Karl Kieburtz, John Hardy, Caroline H Williams-Gray, Donald G Grosset, Jean-Christophe Corvol, Ziv Gan-Or, Mathias Toft, Lasse Pihlstrøm
Polygenic scores for disease risk are not associated with clinical outcomes in Parkinson's disease
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
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
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
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
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
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
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
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