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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. 

Brain : a journal of neurology
Published

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset

Authors
Haiyan Liu, Thomas W Marsh, Xinyu Shi, Alan E Renton, Kevin M Bowling, Ellen Ziegemeier, Guoqiao Wang, Yuchen Cao, Alisha Aristel, Jessie Li, Alexa Dickson, Richard J Perrin, Alison M Goate, Victoria Fernández, Gregory S Day, Michelle Doering, Alisha Daniels, Brian A Gordon, Tammie L S Benzinger, Jason Hassenstab, Laura Ibanez, Charlene Supnet-Bell, Chengjie Xiong, Ricardo Allegri, Sarah B Berman, Nick C Fox, Natalie Ryan, Edward D Huey, Jonathan Vöglein, James M Noble, Jee Hoon Roh, Mathias Jucker, Christoph Laske, Takeshi Ikeuchi, Raquel Sanchez-Valle, Peter R Schofield, Patricio Chrem Mendez, Jasmeer P Chhatwal, Martin Farlow, Jae-Hong Lee, Allan I Levey, Johannes Levin, Francisco Lopera, Ralph Martins, Yoshiki Niimi, Pedro Rosa-Neto, John C Morris, Randall J Bateman, Celeste M Karch, Carlos Cruchaga, Eric McDade, Jorge J Llibre-Guerra
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset
EClinicalMedicine
Published

An interpretable machine learning tool for in-home monitoring of agitation episodes in people living with dementia: a proof-of-concept study

Authors
Marirena Bafaloukou, Ann-Kathrin Schalkamp, Nan Fletcher-Lloyd, Alex Capstick, Chloe Walsh, Cynthia Sandor, Samaneh Kouchaki, CR&T Group, Ramin Nilforooshan, Payam Barnaghi
An interpretable machine learning tool for in-home monitoring of agitation episodes in people living with dementia: a proof-of-concept study
Brain communications
Published

The relationship between leisure time physical activity patterns, Alzheimer's disease markers and cognition

Authors
Sarah-Naomi James, Carole H Sudre, Josephine Barnes, David M Cash, Yu-Jie Chiou, William Coath, Ashvini Keshavan, Kirsty Lu, Ian Malone, Heidi Murray-Smith, Jennifer M Nicholas, Michele Orini, Thomas Parker, Pamela Almeida-Meza, Nick C Fox, Marcus Richards, Jonathan M Schott
The relationship between leisure time physical activity patterns, Alzheimer's disease markers and cognition
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Soluble Aβ pathology predicts neurodegeneration and cognitive decline independently on p-tau in the earliest Alzheimer's continuum: Evidence across two independent cohorts

Authors
Raffaele Cacciaglia, Carles Falcón, Gonzalo Sánchez Benavides, Anna Brugulat-Serrat, Marta Milà Alomà, Marc Suárez Calvet, José Luis Molinuevo, Karine Fauria, Carolina Minguillón, Gwendlyn Kollmorgen, Clara Quijano-Rubio, Kaj Blennow, Henrik Zetterberg, Luigi Lorenzini, Alle Meije Wink, Silvia Ingala, Frederik Barkhof, Craig W Ritchie, Juan Domingo Gispert, ALFA study
Soluble Aβ pathology predicts neurodegeneration and cognitive decline independently on p-tau in the earliest Alzheimer's continuum: Evidence across two independent cohorts
Neurology
Published

Longitudinal Cognitive Changes in Cerebral Small Vessel Disease: The Effect of White Matter Hyperintensity Regression and Progression

Authors
Angela C C Jochems, Susana Muñoz Maniega, Una Clancy, Carmen Arteaga-Reyes, Daniela Jaime Garcia, Francesca M Chappell, Olivia K L Hamilton, Ellen V Backhouse, Gayle Barclay, Charlotte Jardine, Donna McIntyre, Iona Hamilton, Eleni Sakka, Maria Del C Valdés Hernández, Stewart Wiseman, Mark E Bastin, Michael S Stringer, Michael Thrippleton, Fergus Doubal, Joanna M Wardlaw
Longitudinal Cognitive Changes in Cerebral Small Vessel Disease: The Effect of White Matter Hyperintensity Regression and Progression
Brain : a journal of neurology
Published

Plasma phosphorylated tau217 strongly associates with memory deficits in the Alzheimer's disease spectrum

Authors
Jaime Fernández Arias, Wagner S Brum, Gemma Salvadó, Joseph Therriault, Stijn Servaes, Yi-Ting Wang, Etienne Aumont, Nesrine Rahmouni, Arthur Macedo, Kely Quispialaya, Seyyed Ali Hosseini, Peter Kunach, Wan Lu Jia, Tevy Chan, Lydia Trudel, Brandon Hall, Yanseng Zheng, Sejal Mohapatra, Sulantha S Mathotaarachchi, Paolo Vitali, Cécile Tissot, Gleb Bezgin, Yasser Iturria-Medina, Nicholas J Ashton, Andréa Lessa Benedet, Thomas K Karikari, Gallen Triana-Baltzer, Jesse Klostranec, Hartmuth C Kolb, Eduardo R Zimmer, Shorena Janelidze, Niklas Mattson-Carlgren, Erik Stomrud, Sebastian Palmqvist, Henrik Zetterberg, Kaj Blennow, Tharick Pascoal, Maxime Montembeault, Oskar Hansson, Pedro Rosa-Neto
Plasma phosphorylated tau217 strongly associates with memory deficits in the Alzheimer's disease spectrum
Journal of neuroinflammation
Published

Characteristics of TSPO expression in marmoset EAE

Authors
Irene Falk, Dragan Maric, Emily Leibovitch, Pascal Sati, Jennifer Lefeuvre, Nicholas J Luciano, Joseph Guy, Seung-Kwon Ha, David R Owen, Franklin Aigbirhio, Paul M Matthews, Daniel S Reich, Steven Jacobson
Characteristics of TSPO expression in marmoset EAE
bioRxiv : the preprint server for biology
Published

Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk

Authors
Nagham Khouri-Farah, Emma Wentworth Winchester, Brian M Schilder, Kelsey Robinson, Sarah W Curtis, Nathan G Skene, Elizabeth J Leslie-Clarkson, Justin Cotney
Gene expression patterns of the developing human face at single cell resolution reveal cell type contributions to normal facial variation and disease risk
Nature communications
Published

Splicing accuracy varies across human introns, tissues, age and disease

Authors
S García-Ruiz, D Zhang, E K Gustavsson, G Rocamora-Perez, M Grant-Peters, A Fairbrother-Browne, R H Reynolds, J W Brenton, A L Gil-Martínez, Z Chen, D C Rio, J A Botia, S Guelfi, L Collado-Torres, M Ryten
Splicing accuracy varies across human introns, tissues, age and disease