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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. 

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.
JAMA Neurol
Published

Associations Between Vascular Risk Across Adulthood and Brain Pathology in Late Life: Evidence From a British Birth Cohort.

Authors
Christopher A Lane, Josephine Barnes, Jennifer M Nicholas, Carole H Sudre, David M Cash, Ian B Malone, Thomas D Parker, Ashvini Keshavan, Sarah M Buchanan, Sarah E Keuss, Sarah-Naomi James, Kirsty Lu, Heidi Murray-Smith, Andrew Wong, Elizabeth Gordon, William Coath, Marc Modat, David Thomas, Marcus Richards, Nick C Fox, Jonathan M Schott
Associations Between Vascular Risk Across Adulthood and Brain Pathology in Late Life: Evidence From a British Birth Cohort.
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.
Acta Neuropathol
Published

Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.

Authors
Lauren M Gittings, Steven Boeynaems, Daniel Lightwood, Alison Clargo, Sarfaraj Topia, Lisa Nakayama, Claire Troakes, David M A Mann, Aaron D Gitler, Tammaryn Lashley, Adrian M Isaacs
Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.
Cell Reports
Published

Amyloid Beta and Tau Cooperate to Cause Reversible Behavioral and Transcriptional Deficits in a Model of Alzheimer's Disease

Authors
Eleanor K. Pickett, Abigail G. Herrmann, Jamie McQueen, Kimberly Abt, Owen Dando, Jane Tulloch, Pooja Jain, Sophie Dunnett, Sadaf Sohrabi, Maria P. Fjeldstad, Will Calkin, Leo Murison, Rosemary J. Jackson, Makis Tzioras, Anna Stevenson, Marie d'Orange, Monique Hooley, Caitlin Davies, Marti Colom-Cadena, Alejandro Anton-Fernandez, Declan King, Iris Oren, Jamie Rose, Chris-Anne McKenzie, Elizabeth Allison, Colin Smith, Oliver Hardt, Christopher M. Henstridge, Giles E. Hardingham, Tara L. Spires-Jones
Amyloid Beta and Tau Cooperate to Cause Reversible Behavioral and Transcriptional Deficits in a Model of Alzheimer's Disease
Neurology
Published

Cognition at age 70: Life course predictors and associations with brain pathologies.

Authors
Kirsty Lu, Jennifer M Nicholas, Jessica D Collins, Sarah-Naomi James, Thomas D Parker, Christopher A Lane, Ashvini Keshavan, Sarah E Keuss, Sarah M Buchanan, Heidi Murray-Smith, David M Cash, Carole H Sudre, Ian B Malone, William Coath, Andrew Wong, Susie M D Henley, Sebastian J Crutch, Nick C Fox, Marcus Richards, Jonathan M Schott
Cognition at age 70: Life course predictors and associations with brain pathologies.
Science
Published

Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.

Authors
Alexi Nott, Inge R Holtman, Nicole G Coufal, Johannes C M Schlachetzki, Miao Yu, Rong Hu, Claudia Z Han, Monique Pena, Jiayang Xiao, Yin Wu, Zahara Keulen, Martina P Pasillas, Carolyn O'Connor, Christian K Nickl, Simon T Schafer, Zeyang Shen, Robert A Rissman, James B Brewer, David Gosselin, David D Gonda, Michael L Levy, Michael G Rosenfeld, Graham McVicker, Fred H Gage, Bing Ren, Christopher K Glass
Brain cell type-specific enhancer-promoter interactome maps and disease-risk association.