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. 

Nat Commun
Published

Small soluble α-synuclein aggregates are the toxic species in Parkinson's disease.

Authors
Derya Emin, Yu P Zhang, Evgeniia Lobanova, Alyssa Miller, Xuecong Li, Zengjie Xia, Helen Dakin, Dimitrios I Sideris, Jeff Y L Lam, Rohan T Ranasinghe, Antonina Kouli, Yanyan Zhao, Suman De, Tuomas P J Knowles, Michele Vendruscolo, Francesco S Ruggeri, Franklin I Aigbirhio, Caroline H Williams-Gray, David Klenerman
Small soluble α-synuclein aggregates are the toxic species in Parkinson's disease.
NPJ Genom Med
Published

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.

Authors
Sergey V Lobanov, Branduff McAllister, Mia McDade-Kumar, G Bernhard Landwehrmeyer, Michael Orth, Anne E Rosser, , Jane S Paulsen, , Jong-Min Lee, Marcy E MacDonald, James F Gusella, Jeffrey D Long, Mina Ryten, Nigel M Williams, Peter Holmans, Thomas H Massey, Lesley Jones
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
Alzheimers Res Ther
Published

Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.

Authors
Aitana Sogorb-Esteve, Johanna Nilsson, Imogen J Swift, Carolin Heller, Martina Bocchetta, Lucy L Russell, Georgia Peakman, Rhian S Convery, John C van Swieten, Harro Seelaar, Barbara Borroni, Daniela Galimberti, Raquel Sanchez-Valle, Robert Laforce, Fermin Moreno, Matthis Synofzik, Caroline Graff, Mario Masellis, Maria Carmela Tartaglia, James B Rowe, Rik Vandenberghe, Elizabeth Finger, Fabrizio Tagliavini, Isabel Santana, Chris R Butler, Simon Ducharme, Alexander Gerhard, Adrian Danek, Johannes Levin, Markus Otto, Sandro Sorbi, Isabelle Le Ber, Florence Pasquier, Johan Gobom, Ann Brinkmalm, Kaj Blennow, Henrik Zetterberg, Jonathan D Rohrer,
Differential impairment of cerebrospinal fluid synaptic biomarkers in the genetic forms of frontotemporal dementia.
J Neurosci
Published

Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21.

Authors
Paige Mumford, Justin Tosh, Silvia Anderle, Eleni Gkanatsiou Wikberg, Gloria Lau, Sue Noy, Karen Cleverley, Takashi Saito, Takaomi C Saido, Eugene Yu, Gunnar Brinkmalm, Erik Portelius, Kaj Blennow, Henrik Zetterberg, Victor Tybulewicz, Elizabeth M C Fisher, Frances K Wiseman
Genetic Mapping of APP and Amyloid-β Biology Modulation by Trisomy 21.
Sci Transl Med
Published

Widespread cell stress and mitochondrial dysfunction occur in patients with early Alzheimer's disease.

Authors
Ashwin V Venkataraman, Ayla Mansur, Gaia Rizzo, Courtney Bishop, Yvonne Lewis, Ece Kocagoncu, Anne Lingford-Hughes, Mickael Huiban, Jan Passchier, James B Rowe, Hideo Tsukada, David J Brooks, Laurent Martarello, Robert A Comley, Laigao Chen, Adam J Schwarz, Richard Hargreaves, Roger N Gunn, Eugenii A Rabiner, Paul M Matthews
Widespread cell stress and mitochondrial dysfunction occur in patients with early Alzheimer's disease.
Lancet Neurol
Published

A biological classification of Huntington's disease: the Integrated Staging System.

Authors
Sarah J Tabrizi, Scott Schobel, Emily C Gantman, Alexandra Mansbach, Beth Borowsky, Pavlina Konstantinova, Tiago A Mestre, Jennifer Panagoulias, Christopher A Ross, Maurice Zauderer, Ariana P Mullin, Klaus Romero, Sudhir Sivakumaran, Emily C Turner, Jeffrey D Long, Cristina Sampaio,
A biological classification of Huntington's disease: the Integrated Staging System.
Mol Neurodegener
Published

17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes.

Authors
Kathryn R Bowles, Derian A Pugh, Yiyuan Liu, Tulsi Patel, Alan E Renton, Sara Bandres-Ciga, Ziv Gan-Or, Peter Heutink, Ari Siitonen, Sarah Bertelsen, Jonathan D Cherry, Celeste M Karch, Steven J Frucht, Brian H Kopell, Inga Peter, Y J Park, , Alexander Charney, Towfique Raj, John F Crary, A M Goate
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson's disease are associated with LRRC37A/2 expression in astrocytes.
Nat Neurosci
Published

Identification of early neurodegenerative pathways in progressive multiple sclerosis.

Authors
Max Kaufmann, Anna-Lena Schaupp, Rosa Sun, Fabian Coscia, Calliope A Dendrou, Adrian Cortes, Gurman Kaur, Hayley G Evans, Annelie Mollbrink, José Fernández Navarro, Jana K Sonner, Christina Mayer, Gabriele C DeLuca, Joakim Lundeberg, Paul M Matthews, Kathrine E Attfield, Manuel A Friese, Matthias Mann, Lars Fugger
Identification of early neurodegenerative pathways in progressive multiple sclerosis.