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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 communications
Published

Impact of long-term white matter hyperintensity changes on mobility and dexterity

Authors
Angela C C Jochems, Susana Muñoz Maniega, Francesca M Chappell, Una Clancy, Carmen Arteaga, Daniela Jaime Garcia, Olivia K L Hamilton, Will Hewins, Rachel Locherty, Ellen V Backhouse, Gayle Barclay, Charlotte Jardine, Donna McIntyre, Iona Gerrish, Yajun Cheng, Xiaodi Liu, Junfang Zhang, Agniete Kampaite, Eleni Sakka, Maria Valdés Hernández, Stewart Wiseman, Michael S Stringer, Michael J Thrippleton, Fergus N Doubal, Joanna M Wardlaw
Impact of long-term white matter hyperintensity changes on mobility and dexterity
Brain communications
Published

CSF neurofilament light chain profiling and quantitation in neurological diseases

Authors
Claire A Leckey, John B Coulton, Tatiana A Giovannucci, Yingxin He, Aram Aslanyan, Rhiannon Laban, Amanda Heslegrave, Ivan Doykov, Francesca Ammoscato, Jeremy Chataway, Floriana De Angelis, Sharmilee Gnanapavan, Lauren M Byrne, Jonathan M Schott, Edward J Wild, Nicolas R Barthelémy, Henrik Zetterberg, Selina Wray, Randall J Bateman, Kevin Mills, Ross W Paterson
CSF neurofilament light chain profiling and quantitation in neurological diseases
Communications biology
Published

Personalized whole-brain neural mass models reveal combined Aβ and tau hyperexcitable influences in Alzheimer's disease

Authors
Lazaro M Sanchez-Rodriguez, Gleb Bezgin, Felix Carbonell, Joseph Therriault, Jaime Fernandez-Arias, Stijn Servaes, Nesrine Rahmouni, Cécile Tissot, Jenna Stevenson, Thomas K Karikari, Nicholas J Ashton, Andréa L Benedet, Henrik Zetterberg, Kaj Blennow, Gallen Triana-Baltzer, Hartmuth C Kolb, Pedro Rosa-Neto, Yasser Iturria-Medina
Personalized whole-brain neural mass models reveal combined Aβ and tau hyperexcitable influences in Alzheimer's disease
Brain : a journal of neurology
Published

Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia

Authors
Kyrah M Thumbadoo, Birger V Dieriks, Helen C Murray, Molly E V Swanson, Ji Hun Yoo, Nasim F Mehrabi, Clinton Turner, Michael Dragunow, Richard L M Faull, Maurice A Curtis, Teepu Siddique, Christopher E Shaw, Kathy L Newell, Lyndal Henden, Kelly L Williams, Garth A Nicholson, Emma L Scotter
Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia
Neuron
Published

Genome sequence analyses identify novel risk loci for multiple system atrophy

Authors
Ruth Chia, Anindita Ray, Zalak Shah, Jinhui Ding, Paola Ruffo, Masashi Fujita, Vilas Menon, Sara Saez-Atienzar, Paolo Reho, Karri Kaivola, Ronald L Walton, Regina H Reynolds, Ramita Karra, Shaimaa Sait, Fulya Akcimen, Monica Diez-Fairen, Ignacio Alvarez, Alessandra Fanciulli, Nadia Stefanova, Klaus Seppi, Susanne Duerr, Fabian Leys, Florian Krismer, Victoria Sidoroff, Alexander Zimprich, Walter Pirker, Olivier Rascol, Alexandra Foubert-Samier, Wassilios G Meissner, François Tison, Anne Pavy-Le Traon, Maria Teresa Pellecchia, Paolo Barone, Maria Claudia Russillo, Juan Marín-Lahoz, Jaime Kulisevsky, Soraya Torres, Pablo Mir, Maria Teresa Periñán, Christos Proukakis, Viorica Chelban, Lesley Wu, Yee Y Goh, Laura Parkkinen, Michele T Hu, Christopher Kobylecki, Jennifer A Saxon, Sara Rollinson, Emily Garland, Italo Biaggioni, Irene Litvan, Ileana Rubio, Roy N Alcalay, Kimberly T Kwei, Steven J Lubbe, Qinwen Mao, Margaret E Flanagan, Rudolph J Castellani, Vikram Khurana, Alain Ndayisaba, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C Bohannan, Anni Moore, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, Changyoun Kim, Michiyo Iba, Eliezer Masliah, Ted M Dawson, Liana S Rosenthal, Alexander Pantelyat, Marilyn S Albert, Olga Pletnikova, Juan C Troncoso, Jon Infante, Carmen Lage, Pascual Sánchez-Juan, Geidy E Serrano, Thomas G Beach, Pau Pastor, Huw R Morris, Diego Albani, Jordi Clarimon, Gregor K Wenning, John A Hardy, Mina Ryten, Eric Topol, Ali Torkamani, Adriano Chiò, David A Bennett, Philip L De Jager, Philip A Low, Wolfgang Singer, William P Cheshire, Zbigniew K Wszolek, Dennis W Dickson, Bryan J Traynor, J Raphael Gibbs, Clifton L Dalgard, Owen A Ross, Henry Houlden, Sonja W Scholz
Genome sequence analyses identify novel risk loci for multiple system atrophy
Nature reviews. Molecular cell biology
Published

Is amyloid-β a friend or foe?

Authors
Claire S Durrant
Is amyloid-β a friend or foe?
Acta Neuropathol
Published

Characterisation of premature cell senescence in Alzheimer's disease using single nuclear transcriptomics.

Authors
Nurun N Fancy, Amy M Smith, Alessia Caramello, Stergios Tsartsalis, Karen Davey, Robert C J Muirhead, Aisling McGarry, Marion H Jenkyns, Eleonore Schneegans, Vicky Chau, Michael Thomas, Sam Boulger, To Ka Dorcas Cheung, Emily Adair, Marianna Papageorgopoulou, Nanet Willumsen, Combiz Khozoie, Diego Gomez-Nicola, Johanna S Jackson, Paul M Matthews
Characterisation of premature cell senescence in Alzheimer's disease using single nuclear transcriptomics.
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.
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.