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. 

Featured

man sitting on bed at night
- Research

Sleep problems could double risk of dementia in later life

People who experience sleep disorders are at greater risk of developing dementia and other neurodegenerative conditions later in life, new research led by Prof Valentina...

Learn more Sleep problems could double risk of dementia in later life
NAR Genom Bioinform
Published

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.

Authors
Alysha S Taylor, Dinis Barros, Nastassia Gobet, Thierry Schuepbach, Branduff McAllister, Lorene Aeschbach, Emma L Randall, Evgeniya Trofimenko, Eleanor R Heuchan, Paula Barszcz, Marc Ciosi, Joanne Morgan, Nathaniel J Hafford-Tear, Alice E Davidson, Thomas H Massey, Darren G Monckton, Lesley Jones, Registry Investigators Of The European Huntington's Disease Network, Ioannis Xenarios, Vincent Dion
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing.
Nat Biotechnol
Published

The Coronavirus Standards Working Group's roadmap for improved population testing.

Authors
Tim Mercer, Neil Almond, Michael A Crone, Patrick S G Chain, Alina Deshpande, Deepa Eveleigh, Paul Freemont, Sebastien Fuchs, Russell Garlick, Jim Huggett, Martin Kammel, Po-E Li, Mojca Milavec, Elizabeth M Marlowe, Denise M O'Sullivan, Mark Page, Gary A Pestano, Sara Suliman, Birgitte Simen, John J Sninsky, Lynne Sopchak, Cristina M Tato, Peter M Vallone, Jo Vandesompele, Thomas J White, Heinz Zeichhardt, Marc Salit
The Coronavirus Standards Working Group's roadmap for improved population testing.
Lancet Respir Med
Published

Onset and window of SARS-CoV-2 infectiousness and temporal correlation with symptom onset: a prospective, longitudinal, community cohort study.

Authors
Seran Hakki, Jie Zhou, Jakob Jonnerby, Anika Singanayagam, Jack L Barnett, Kieran J Madon, Aleksandra Koycheva, Christine Kelly, Hamish Houston, Sean Nevin, Joe Fenn, Rhia Kundu, Michael A Crone, Timesh D Pillay, Shazaad Ahmad, Nieves Derqui-Fernandez, Emily Conibear, Paul S Freemont, Graham P Taylor, Neil Ferguson, Maria Zambon, Wendy S Barclay, Jake Dunning, Ajit Lalvani,
Onset and window of SARS-CoV-2 infectiousness and temporal correlation with symptom onset: a prospective, longitudinal, community cohort study.
Proc Natl Acad Sci U S A
Published

Metabolome-wide association study on ABCA7 indicates a role of ceramide metabolism in Alzheimer's disease.

Authors
Abbas Dehghan, Rui Climaco Pinto, Ibrahim Karaman, Jian Huang, Brenan R Durainayagam, Mohsen Ghanbari, Areesha Nazeer, Qi Zhong, Sonia Liggi, Luke Whiley, Rima Mustafa, Miia Kivipelto, Alina Solomon, Tiia Ngandu, Takahisa Kanekiyo, Tomonori Aikawa, Carola I Radulescu, Samuel J Barnes, Gonçalo Graça, Elena Chekmeneva, Stephane Camuzeaux, Matthew R Lewis, Manuja R Kaluarachchi, M Arfan Ikram, Elaine Holmes, Ioanna Tzoulaki, Paul M Matthews, Julian L Griffin, Paul Elliott
Metabolome-wide association study on ABCA7 indicates a role of ceramide metabolism in Alzheimer's disease.
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.
Acta Neuropathol
Published

PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD.

Authors
Federica Pilotto, Alexander Schmitz, Niran Maharjan, Rim Diab, Adolfo Odriozola, Priyanka Tripathi, Alfred Yamoah, Olivier Scheidegger, Angelina Oestmann, Cassandra N Dennys, Shrestha Sinha Ray, Rochelle Rodrigo, Stephen Kolb, Eleonora Aronica, Stefano Di Santo, Hans Rudolf Widmer, Nicolas Charlet-Berguerand, Bhuvaneish T Selvaraj, Siddharthan Chandran, Kathrin Meyer, Benoît Zuber, Anand Goswami, Joachim Weis, Smita Saxena
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD.
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.