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
Ann Neurol
Published

Synaptic Loss in Frontotemporal Dementia Revealed by [11 C]UCB-J Positron Emission Tomography.

Authors
Maura Malpetti, P Simon Jones, Thomas E Cope, Negin Holland, Michelle Naessens, Matthew A Rouse, Timothy Rittman, George Savulich, David J Whiteside, Duncan Street, Tim D Fryer, Young T Hong, Selena Milicevic Sephton, Franklin I Aigbirhio, John T O Brien, James B Rowe
Synaptic Loss in Frontotemporal Dementia Revealed by [11 C]UCB-J Positron Emission Tomography.
Nucleic Acids Res
Published

IntroVerse: a comprehensive database of introns across human tissues.

Authors
Sonia García-Ruiz, Emil K Gustavsson, David Zhang, Regina H Reynolds, Zhongbo Chen, Aine Fairbrother-Browne, Ana Luisa Gil-Martínez, Juan A Botia, Leonardo Collado-Torres, Mina Ryten
IntroVerse: a comprehensive database of introns across human tissues.
Mol Psychiatry
Published

Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing.

Authors
Karen Crawford, Ganna Leonenko, Emily Baker, Detelina Grozeva, Benoit Lan-Leung, Peter Holmans, Julie Williams, Michael C O'Donovan, Valentina Escott-Price, Dobril K Ivanov
Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing.
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.