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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. 

Cell systems
Published

Integrated multi-omic characterizations of the synapse reveal RNA processing factors and ubiquitin ligases associated with neurodevelopmental disorders

Authors
Yuan Mei, Maya L Gosztyla, Xinzhu Tan, Lara E Dozier, Brent Wilkinson, Justin McKetney, John Lee, Michael Chen, Dorothy Tsai, Hema Kopalle, Marina A Gritsenko, Nicolas Hartel, Nicholas A Graham, Ilse Flores, Stephen K Gilmore-Hall, Shuhao Xu, Charlotte A Marquez, Sophie N Liu, Dylan Fong, Jing Chen, Kate Licon, Derek Hong, Sarah N Wright, Jason F Kreisberg, Alexi Nott, Richard D Smith, Wei-Jun Qian, Danielle L Swaney, Lilia M Iakoucheva, Nevan J Krogan, Gentry N Patrick, Yang Zhou, Guoping Feng, Marcelo P Coba, Gene W Yeo, Trey Ideker
Integrated multi-omic characterizations of the synapse reveal RNA processing factors and ubiquitin ligases associated with neurodevelopmental disorders
Nature neuroscience
Published

Author Correction: Neuronal polyunsaturated fatty acids are protective in ALS/FTD

Authors
Ashling Giblin, Alexander J Cammack, Niek Blomberg, Sharifah Anoar, Alla Mikheenko, Mireia Carcolé, Magda L Atilano, Alex Hull, Dunxin Shen, Xiaoya Wei, Rachel Coneys, Lele Zhou, Yassene Mohammed, Damien Olivier-Jimenez, Lian Y Wang, Kerri J Kinghorn, Teresa Niccoli, Alyssa N Coyne, Rik van der Kant, Tammaryn Lashley, Martin Giera, Linda Partridge, Adrian M Isaacs
Author Correction: Neuronal polyunsaturated fatty acids are protective in ALS/FTD
Journal of neurology
Published

Tau levels in platelets isolated from Huntington's disease patients serve as a biomarker of disease severity

Authors
Melanie Alpaugh, Juan Lantero-Rodriguez, Andrea L Benedet, Uriel Manseau, Martine Boutin, Massimo Maiuri, Helena L Denis, Maria Masnata, Shaline V Fazal, Sylvain Chouinard, Pedro Rosa-Neto, Roger A Barker, Kaj Blennow, Henrik Zetterberg, Richard Labib, Francesca Cicchetti
Tau levels in platelets isolated from Huntington's disease patients serve as a biomarker of disease severity
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Considerations in the clinical use of amyloid PET and CSF biomarkers for Alzheimer's disease

Authors
Antoine Leuzy, Ariane Bollack, Daniela Pellegrino, Charlotte E Teunissen, Renaud La Joie, Gil D Rabinovici, Nicolai Franzmeier, Keith Johnson, Frederik Barkhof, Leslie M Shaw, Alexander Arkhipenko, Suzanne E Schindler, Lawrence S Honig, Alexis Moscoso Rial, Michael Schöll, Henrik Zetterberg, Kaj Blennow, Oskar Hansson, Gill Farrar
Considerations in the clinical use of amyloid PET and CSF biomarkers for Alzheimer's disease
JAMA network open
Published

Physical Activity, Alzheimer Plasma Biomarkers, and Cognition

Authors
Seung Ae Kim, Daeun Shin, Hongki Ham, Yeshin Kim, Yuna Gu, Hee Jin Kim, Duk L Na, Henrik Zetterberg, Kaj Blennow, Sang Won Seo, Hyemin Jang, Precision Medicine Platform for Mild Cognitive Impairment Based on Multi-omics, Imaging, Evidence-Based R&BD (PREMIER) Consortium
Physical Activity, Alzheimer Plasma Biomarkers, and Cognition
Neurobiology of disease
Published

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy

Authors
A Peck, A Dadi, Z Yavarow, L N Alfano, D Anderson, M R Arkin, T F Chou, E S D'Ambrosio, J Diaz-Manera, J P Dudley, A G Elder, N Ghoshal, C E Hart, None Hart, None Huryn, A E Johnson, K B Jones, V Kimonis, E Kiskinis, E B Lee, T E Lloyd, M Mapstone, A Martin, H Meyer, T Mozaffar, C U Onyike, G Pfeffer, A Pindon, M Raman, I Richard, D C Rubinsztein, M Schiava, A K Schütz, P S Shen, D R Southworth, A M Staffaroni, M Taralio-Gravovac, C C Weihl, Q Yao, Y Ye, N Peck
2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy
Brain : a journal of neurology
Published

Post-mortem validation of in vivo TSPO PET as a microglial biomarker

Authors
Sasvi S Wijesinghe, James B Rowe, Hannah D Mason, Kieren S J Allinson, Reuben Thomas, Davi S Vontobel, Tim D Fryer, Young T Hong, Mehtap Bacioglu, Maria Grazia Spillantini, Jelle van den Ameele, John T O'Brien, Sanne Kaalund, Maura Malpetti, Annelies Quaegebeur
Post-mortem validation of in vivo TSPO PET as a microglial biomarker
The Journal of infectious diseases
Published

Increased cerebrospinal fluid ACE2 fragments as a read-out of brain infection in COVID-19 encephalopathy patients

Authors
Matthew P Lennol, María-Salud García-Ayllón, Carlos Avilés-Granados, Chiara Trasciatti, Chiara Tolassi, Virginia Quaresima, Davide Arici, Viviana Cristillo, Irene Volonghi, Francesca Caprioli, Valeria De Giuli, Sara Mariotto, Sergio Ferrari, Gianluigi Zanusso, Nicholas J Ashton, Henrik Zetterberg, Kaj Blennow, Alessandro Padovani, Andrea Pilotto, Javier Sáez-Valero
Increased cerebrospinal fluid ACE2 fragments as a read-out of brain infection in COVID-19 encephalopathy patients
Neuropathology and applied neurobiology
Published

Enhancing Lateral Resolution Using Two-Colour Direct Stochastic Optical Reconstruction Microscopy to Unravel Synaptic Tau Pathology in Alzheimer's Disease

Authors
Érika Sánchez-Aced, Borja Moya-Llamas, Joaquim Aumatell Escabias, Soraya Torres, Martí Colom-Cadena, Jordi Pegueroles, Cristian de Quintana-Schmidt, Àlex Bayés, Laura Molina-Porcel, Iban Aldecoa, Olivia Belbin, Juan Fortea, Tara Spires-Jones, Sílvia Pujals, Sònia Sirisi, Alberto Lleó
Enhancing Lateral Resolution Using Two-Colour Direct Stochastic Optical Reconstruction Microscopy to Unravel Synaptic Tau Pathology in Alzheimer's Disease
Alzheimer's research & therapy
Published

Synaptic protein CSF levels relate to memory scores in individuals without dementia

Authors
Kirsten E J Wesenhagen, Diederick M de Leeuw, Jori Tomassen, Johan Gobom, Isabelle Bos, Stephanie J B Vos, Pablo Martinez-Lage, Mikel Tainta, Julius Popp, Gwendoline Peyratout, Magda Tsolaki, Rik Vandenberghe, Yvonne Freund-Levi, Frans Verhey, Simon Lovestone, Johannes Streffer, Valerija Dobricic, Kaj Blennow, Philip Scheltens, August B Smit, Lars Bertram, Charlotte E Teunissen, Henrik Zetterberg, Betty M Tijms, Pieter Jelle Visser, Alzheimer’s Disease Neuroimaging Initiative
Synaptic protein CSF levels relate to memory scores in individuals without dementia
The lancet. Psychiatry
Published

Efficacy of clozapine versus second-generation antipsychotics in people with treatment-resistant schizophrenia: a systematic review and individual patient data meta-analysis

Authors
Johannes Schneider-Thoma, Tasnim Hamza, Konstantina Chalkou, Spyridon Siafis, Shimeng Dong, Irene Bighelli, Wulf-Peter Hansen, Elfriede Scheuring, John M Davis, Josef Priller, Pierre Baumann, Robert Conley, Joachim Cordes, Deanna Kelly, Michael Kluge, Sanjiv Kumra, Shôn Lewis, Herbert Y Meltzer, Dieter Naber, Nina Schooler, Jan Volavka, Kristian Wahlbeck, Georgia Salanti, Stefan Leucht
Efficacy of clozapine versus second-generation antipsychotics in people with treatment-resistant schizophrenia: a systematic review and individual patient data meta-analysis
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Plasma p-tau217 identifies cognitively normal older adults who will develop cognitive impairment in a 10-year window

Authors
Yara Yakoub, Fernando Gonzalez-Ortiz, Nicholas J Ashton, Christine Déry, Cherie Strikwerda-Brown, Frédéric St-Onge, Valentin Ourry, Michael Schöll, Maiya R Geddes, Simon Ducharme, Maxime Montembeault, Pedro Rosa-Neto, Jean-Paul Soucy, John C S Breitner, Henrik Zetterberg, Kaj Blennow, Judes Poirier, Sylvia Villeneuve, PREVENT−AD Research Group
Plasma p-tau217 identifies cognitively normal older adults who will develop cognitive impairment in a 10-year window