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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. 

Nature Reviews Neurology
Published
Synaptic degeneration in Alzheimer disease
Authors
Makis Tzioras, Robert I. McGeachan, Claire S. Durrant, Tara L Spires-Jones
Synaptic degeneration in Alzheimer disease
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.
Lancet Healthy Longev
Published
Life course, genetic, and neuropathological associations with brain age in the 1946 British Birth Cohort: a population-based study.
Authors
Aaron Z Wagen, William Coath, Ashvini Keshavan, Sarah-Naomi James, Thomas D Parker, Christopher A Lane, Sarah M Buchanan, Sarah E Keuss, Mathew Storey, Kirsty Lu, Amy Macdougall, Heidi Murray-Smith, Tamar Freiberger, David M Cash, Ian B Malone, Josephine Barnes, Carole H Sudre, Andrew Wong, Ivanna M Pavisic, Rebecca Street, Sebastian J Crutch, Valentina Escott-Price, Ganna Leonenko, Henrik Zetterberg, Henrietta Wellington, Amanda Heslegrave, Frederik Barkhof, Marcus Richards, Nick C Fox, James H Cole, Jonathan M Schott
Life course, genetic, and neuropathological associations with brain age in the 1946 British Birth Cohort: a population-based study.
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.