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

- Research

Genetic changes in brain cells link ageing and Alzheimer’s

Genetic differences that contribute to how long a person will live and their risk of Alzheimer’s disease have been identified in a new study led...

Learn more Genetic changes in brain cells link ageing and Alzheimer’s
Lancet Neurol
Published

Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis.

Authors
Rachael I Scahill, Paul Zeun, Katherine Osborne-Crowley, Eileanoir B Johnson, Sarah Gregory, Christopher Parker, Jessica Lowe, Akshay Nair, Claire O'Callaghan, Christelle Langley, Marina Papoutsi, Peter McColgan, Carlos Estevez-Fraga, Kate Fayer, Henny Wellington, Filipe B Rodrigues, Lauren M Byrne, Amanda Heselgrave, Harpreet Hyare, Cristina Sampaio, Henrik Zetterberg, Hui Zhang, Edward J Wild, Geraint Rees, Trevor W Robbins, Barbara J Sahakian, Douglas Langbehn, Sarah J Tabrizi
Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington's disease Young Adult Study (HD-YAS): a cross-sectional analysis.
Sci Adv
Published

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.

Authors
David Zhang, Sebastian Guelfi, Sonia Garcia-Ruiz, Beatrice Costa, Regina H Reynolds, Karishma D'Sa, Wenfei Liu, Thomas Courtin, Amy Peterson, Andrew E Jaffe, John Hardy, Juan A Botía, Leonardo Collado-Torres, Mina Ryten
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders.
Brain
Published

Microglial activation and tau burden predict cognitive decline in Alzheimer's disease.

Authors
Maura Malpetti, Rogier A Kievit, Luca Passamonti, P Simon Jones, Kamen A Tsvetanov, Timothy Rittman, Elijah Mak, Nicolas Nicastro, W Richard Bevan-Jones, Li Su, Young T Hong, Tim D Fryer, Franklin I Aigbirhio, John T O'Brien, James B Rowe
Microglial activation and tau burden predict cognitive decline in Alzheimer's disease.
Nat Genet
Published

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.

Authors
Julien Bryois, Nathan G Skene, Thomas Folkmann Hansen, Lisette J A Kogelman, Hunna J Watson, Zijing Liu, , , , Leo Brueggeman, Gerome Breen, Cynthia M Bulik, Ernest Arenas, Jens Hjerling-Leffler, Patrick F Sullivan
Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson's disease.
Lancet Neurol
Published

Efficacy of three neuroprotective drugs in secondary progressive multiple sclerosis (MS-SMART): a phase 2b, multiarm, double-blind, randomised placebo-controlled trial.

Authors
Jeremy Chataway, Floriana De Angelis, Peter Connick, Richard A Parker, Domenico Plantone, Anisha Doshi, Nevin John, Jonathan Stutters, David MacManus, Ferran Prados Carrasco, Frederik Barkhof, Sebastien Ourselin, Marie Braisher, Moira Ross, Gina Cranswick, Sue H Pavitt, Gavin Giovannoni, Claudia Angela Gandini Wheeler-Kingshott, Clive Hawkins, Basil Sharrack, Roger Bastow, Christopher J Weir, Nigel Stallard, Siddharthan Chandran,
Efficacy of three neuroprotective drugs in secondary progressive multiple sclerosis (MS-SMART): a phase 2b, multiarm, double-blind, randomised placebo-controlled trial.
Acta Neuropathol
Published

Biallelic mutations in NRROS cause an early onset lethal microgliopathy.

Authors
Colin Smith, Barry W McColl, Anirudh Patir, Jack Barrington, Jeremy Armishaw, Antonia Clarke, Jenny Eaton, Vivienne Hobbs, Sahar Mansour, Melinda Nolan, Gillian I Rice, Mathieu P Rodero, Luis Seabra, Carolina Uggenti, John H Livingston, Leslie R Bridges, Iona J M Jeffrey, Yanick J Crow
Biallelic mutations in NRROS cause an early onset lethal microgliopathy.
Brain Commun
Published

Analysis of α-synuclein species enriched from cerebral cortex of humans with sporadic dementia with Lewy bodies.

Authors
John B Sanderson, Suman De, Haiyang Jiang, Matteo Rovere, Ming Jin, Ludovica Zaccagnini, Aurelia Hays Watson, Laura De Boni, Valentina N Lagomarsino, Tracy L Young-Pearse, Xinyue Liu, Thomas C Pochapsky, Bradley T Hyman, Dennis W Dickson, David Klenerman, Dennis J Selkoe, Tim Bartels
Analysis of α-synuclein species enriched from cerebral cortex of humans with sporadic dementia with Lewy bodies.
Nat Neurosci
Published

A tau homeostasis signature is linked with the cellular and regional vulnerability of excitatory neurons to tau pathology.

Authors
Hongjun Fu, Andrea Possenti, Rosie Freer, Yoshikazu Nakano, Nancy C Hernandez Villegas, Maoping Tang, Paula V M Cauhy, Benjamin A Lassus, Shuo Chen, Stephanie L Fowler, Helen Y Figueroa, Edward D Huey, Gail V W Johnson, Michele Vendruscolo, Karen E Duff
A tau homeostasis signature is linked with the cellular and regional vulnerability of excitatory neurons to tau pathology.