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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. 

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
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
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
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
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
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
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
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
Differential roles of Alzheimer's disease plasma biomarkers in stepwise biomarker-guided diagnostics
Authors
Hyemin Jang, Daeun Shin, Heejin Yoo, Henrik Zetterberg, Kaj Blennow, Fernando Gonzalez-Ortiz, Nicholas J Ashton, Theresa A Day, Eun Hye Lee, Jihwan Yun, Duk L Na, Hee Jin Kim, Sung Hoon Kang, Ko Woon Kim, Si Eun Kim, Yeo Jin Kim, Yeshin Kim, Jaeho Kim, Chi-Hun Kim, Min Young Chun, Na Yeon Jung, Soo Hyun Cho, Jun Pyo Kim, Sang Won Seo, K‐ROAD study groups
Differential roles of Alzheimer's disease plasma biomarkers in stepwise biomarker-guided diagnostics
Science translational medicine
Published
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes
Authors
Aitana Sogorb-Esteve, Sophia Weiner, Joel Simrén, Imogen J Swift, Martina Bocchetta, Emily G Todd, David M Cash, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Harro Seelaar, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Florence Pasquier, Simon Ducharme, Chris R Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, None Genfi, Kaj Blennow, Henrik Zetterberg, Jonathan D Rohrer, Johan Gobom, GENFI
Proteomic analysis reveals distinct cerebrospinal fluid signatures across genetic frontotemporal dementia subtypes
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published
The Alzheimer's Association Global Biomarker Standardization Consortium (GBSC) plasma phospho-tau Round Robin study
Authors
Nicholas J Ashton, Ashvini Keshavan, Wagner S Brum, Ulf Andreasson, Burak Arslan, Mathias Droescher, Stefan Barghorn, Jeroen Vanbrabant, Charlotte Lambrechts, Maxime Van Loo, Erik Stoops, Shweta Iyengar, HaYeun Ji, Xiaomei Xu, Alex Forrest-Hay, Bingqing Zhang, Yuling Luo, Andreas Jeromin, Manu Vandijck, Nathalie Le Bastard, Hartmuth Kolb, Gallen Triana-Baltzer, Divya Bali, Shorena Janelidze, Shieh-Yueh Yang, Catherine Demos, Daniel Romero, George Sigal, Jacob Wohlstadter, Kishore Malyavantham, Meenakshi Khare, Alexander Jethwa, Laura Stoeckl, Johan Gobom, Przemysław R Kac, Fernando Gonzalez-Ortiz, Laia Montoliu-Gaya, Oskar Hansson, Robert A Rissman, Maria C Carrillo, Leslie M Shaw, Kaj Blennow, Jonathan M Schott, Henrik Zetterberg
The Alzheimer's Association Global Biomarker Standardization Consortium (GBSC) plasma phospho-tau Round Robin study