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

Alzheimers Res Ther
Published

Measuring cortical mean diffusivity to assess early microstructural cortical change in presymptomatic familial Alzheimer's disease.

Authors
Philip S J Weston, Teresa Poole, Jennifer M Nicholas, Nicolas Toussaint, Ivor J A Simpson, Marc Modat, Natalie S Ryan, Yuying Liang, Martin N Rossor, Jonathan M Schott, Sebastien Ourselin, Hui Zhang, Nick C Fox
Measuring cortical mean diffusivity to assess early microstructural cortical change in presymptomatic familial Alzheimer's disease.
Cell
Published

Spatial Transcriptomics and In Situ Sequencing to Study Alzheimer's Disease.

Authors
Wei-Ting Chen, Ashley Lu, Katleen Craessaerts, Benjamin Pavie, Carlo Sala Frigerio, Nikky Corthout, Xiaoyan Qian, Jana Laláková, Malte Kühnemund, Iryna Voytyuk, Leen Wolfs, Renzo Mancuso, Evgenia Salta, Sriram Balusu, An Snellinx, Sebastian Munck, Aleksandra Jurek, Jose Fernandez Navarro, Takaomi C Saido, Inge Huitinga, Joakim Lundeberg, Mark Fiers, Bart De Strooper
Spatial Transcriptomics and In Situ Sequencing to Study Alzheimer's Disease.
EMBO J
Published

Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3.

Authors
Martina Pigoni, Hung-En Hsia, Jana Hartmann, Jasenka Rudan Njavro, Merav D Shmueli, Stephan A Müller, Gökhan Güner, Johanna Tüshaus, Peer-Hendrik Kuhn, Rohit Kumar, Pan Gao, Mai Ly Tran, Bulat Ramazanov, Birgit Blank, Agnes L Hipgrave Ederveen, Julia Von Blume, Christophe Mulle, Jenny M Gunnersen, Manfred Wuhrer, Gerhard Rammes, Marc Aurel Busche, Thomas Koeglsperger, Stefan F Lichtenthaler
Seizure protein 6 controls glycosylation and trafficking of kainate receptor subunits GluK2 and GluK3.
Nucleic Acids Res
Published

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.

Authors
Jack Humphrey, Nicol Birsa, Carmelo Milioto, Martha McLaughlin, Agnieszka M Ule, David Robaldo, Andrea B Eberle, Rahel Kräuchi, Matthew Bentham, Anna-Leigh Brown, Seth Jarvis, Cristian Bodo, Maria G Garone, Anny Devoy, Gianni Soraru, Alessandro Rosa, Irene Bozzoni, Elizabeth M C Fisher, Oliver Mühlemann, Giampietro Schiavo, Marc-David Ruepp, Adrian M Isaacs, Vincent Plagnol, Pietro Fratta
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
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.