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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. 

NPJ Parkinsons Dis
Published

Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.

Authors
Quyen B Do, Humaira Noor, Ricardo Marquez-Gomez, Kaitlyn M L Cramb, Bryan Ng, Ajantha Abbey, Naroa Ibarra-Aizpurua, Maria Claudia Caiazza, Parnaz Sharifi, Charmaine Lang, Dayne Beccano-Kelly, Jimena Baleriola, Nora Bengoa-Vergniory, Richard Wade-Martins
Early deficits in an in vitro striatal microcircuit model carrying the Parkinson's GBA-N370S mutation.
Nat Neurosci
Published

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.

Authors
Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaacs
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Alzheimers Res Ther
Published

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

Authors
Imogen J Swift, Rosa Rademakers, NiCole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T Takada, Raquel Sánchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermín Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gómez-Tortosa, Pablo Agüero, M José Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Wieland Kiess, Andreas Hiemisch, Anne Jurkutat, Matthew S Block, Aaron M Carlson, Geir Bråthen, Sigrid Botne Sando, Gøril Rolfseng Grøntvedt, Camilla Lauridsen, Amanda Heslegrave, Carolin Heller, Emily Abel, Alba Gómez-Núñez, Roger Puey, Andrea Arighi, Enmanuela Rotondo, Lize C Jiskoot, Lieke H H Meeter, João Durães, Marisa Lima, Miguel Tábuas-Pereira, João Lemos, Bradley Boeve, Ronald C Petersen, Dennis W Dickson, Neill R Graff-Radford, Isabelle LeBer, Leila Sellami, Foudil Lamari, Fabienne Clot, Barbara Borroni, Valentina Cantoni, Jasmine Rivolta, Alberto Lleó, Juan Fortea, Daniel Alcolea, Ignacio Illán-Gala, Lucie Andres-Cerezo, Philip Van Damme, Jordi Clarimon, Petra Steinacker, Emily Feneberg, Markus Otto, Emma L van der Ende, John C van Swieten, Harro Seelaar, Henrik Zetterberg, Aitana Sogorb-Esteve, Jonathan D Rohrer
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Alzheimers Dement
Published

Dementias Platform UK: Bringing genetics into life.

Authors
Ganna Leonenko, Sarah Bauermeister, Dipanwita Ghanti, Joshua Stevenson-Hoare, Emily Simmonds, Keeley Brookes, Kevin Morgan, Nishi Chaturvedi, Paul Elliott, Alan Thomas, Nicholas Wareham, John Gallacher, Valentina Escott-Price
Dementias Platform UK: Bringing genetics into life.
Nat Commun
Published

A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.

Authors
Stergios Tsartsalis, Hannah Sleven, Nurun Fancy, Frank Wessely, Amy M Smith, Nanet Willumsen, To Ka Dorcas Cheung, Michal J Rokicki, Vicky Chau, Eseoghene Ifie, Combiz Khozoie, Olaf Ansorge, Xin Yang, Marion H Jenkyns, Karen Davey, Aisling McGarry, Robert C J Muirhead, Stephanie Debette, Johanna S Jackson, Axel Montagne, David R Owen, J Scott Miners, Seth Love, Caleb Webber, M Zameel Cader, Paul M Matthews
A single nuclear transcriptomic characterisation of mechanisms responsible for impaired angiogenesis and blood-brain barrier function in Alzheimer's disease.
Nature
Published

Genetic determinants of micronucleus formation in vivo.

Authors
D J Adams, B Barlas, R E McIntyre, I Salguero, L van der Weyden, A Barros, J R Vicente, N Karimpour, A Haider, M Ranzani, G Turner, N A Thompson, V Harle, R Olvera-León, C D Robles-Espinoza, A O Speak, N Geisler, W J Weninger, S H Geyer, J Hewinson, N A Karp, , B Fu, F Yang, Z Kozik, J Choudhary, L Yu, M S van Ruiten, B D Rowland, C J Lelliott, M Del Castillo Velasco-Herrera, R Verstraten, L Bruckner, A G Henssen, M A Rooimans, J de Lange, T J Mohun, M J Arends, K A Kentistou, P A Coelho, Y Zhao, H Zecchini, J R B Perry, S P Jackson, G Balmus
Genetic determinants of micronucleus formation in vivo.
Clocks Sleep
Published

A Protocol for Evaluating Digital Technology for Monitoring Sleep and Circadian Rhythms in Older People and People Living with Dementia in the Community.

Authors
Ciro Della Monica, Kiran K G Ravindran, Giuseppe Atzori, Damion J Lambert, Thalia Rodriguez, Sara Mahvash-Mohammadi, Ullrich Bartsch, Anne C Skeldon, Kevin Wells, Adam Hampshire, Ramin Nilforooshan, Hana Hassanin, The Uk Dementia Research Institute Care Research Amp Technology Research Group, Victoria L Revell, Derk-Jan Dijk
A Protocol for Evaluating Digital Technology for Monitoring Sleep and Circadian Rhythms in Older People and People Living with Dementia in the Community.
N Engl J Med
Published

Cognition and Memory after Covid-19 in a Large Community Sample.

Authors
Adam Hampshire, Adriana Azor, Christina Atchison, William Trender, Peter J Hellyer, Valentina Giunchiglia, Masud Husain, Graham S Cooke, Emily Cooper, Adam Lound, Christl A Donnelly, Marc Chadeau-Hyam, Helen Ward, Paul Elliott
Cognition and Memory after Covid-19 in a Large Community Sample.
Eur Stroke J
Published

European stroke organisation (ESO) guideline on cerebral small vessel disease, part 2, lacunar ischaemic stroke.

Authors
Joanna M Wardlaw, Hugues Chabriat, Frank-Erik de Leeuw, Stéphanie Debette, Martin Dichgans, Fergus Doubal, Hanna Jokinen, Aristeidis H Katsanos, Raffaele Ornello, Leonardo Pantoni, Marco Pasi, Aleksandra M Pavlovic, Salvatore Rudilosso, Reinhold Schmidt, Julie Staals, Martin Taylor-Rowan, Salman Hussain, Arne G Lindgren
European stroke organisation (ESO) guideline on cerebral small vessel disease, part 2, lacunar ischaemic stroke.