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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

C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis

Authors
Mathias De Decker, Pavol Zelina, Thomas G Moens, Jimmy Beckers, Matilde Contardo, Katarina Stoklund Dittlau, Evelien Van Schoor, Alicja Ronisz, Kristel Eggermont, Matthieu Moisse, Siddharthan Chandran, Jan H Veldink, Dietmar Rudolf Thal, Ludo Van Den Bosch, R Jeroen Pasterkamp, Philip Van Damme
C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis
EBioMedicine
Published

Disentangling relationships between Alzheimer's disease plasma biomarkers and established biomarkers in patients of tertiary memory clinics

Authors
Marina Bluma, Konstantinos Chiotis, Marco Bucci, Irina Savitcheva, Anna Matton, Miia Kivipelto, Andreas Jeromin, Giovanni De Santis, Guglielmo Di Molfetta, Nicholas J Ashton, Kaj Blennow, Henrik Zetterberg, Agneta Nordberg
Disentangling relationships between Alzheimer's disease plasma biomarkers and established biomarkers in patients of tertiary memory clinics
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Advancements in Immunity and Dementia Research: Highlights from the 2023 AAIC Advancements: Immunity Conference

Authors
Courtney M Kloske, Simin Mahinrad, Christopher J Barnum, Andre F Batista, Elizabeth M Bradshaw, Brittany Butts, Maria C Carrillo, Paramita Chakrabarty, Xiaoying Chen, Suzanne Craft, Sandro Da Mesquita, Luke C Dabin, Davangere Devanand, Violeta Duran-Laforet, Wassim Elyaman, Elizabeth E Evans, Patricia Fitzgerald-Bocarsly, Kate E Foley, Ashley S Harms, Michael T Heneka, Soyon Hong, Yu-Wen A Huang, Stephanie Jackvony, Laijun Lai, Yann Le Guen, Cynthia A Lemere, Shane A Liddelow, Alfonso Martin-Peña, Anna G Orr, Francisco J Quintana, Grace D Ramey, Jessica E Rexach, Stacey J S Rizzo, Claire Sexton, Alice S Tang, Jose G Torrellas, Andy P Tsai, Lynn van Olst, Keenan A Walker, Whitney Wharton, Malú Gámez Tansey, Donna M Wilcock
Advancements in Immunity and Dementia Research: Highlights from the 2023 AAIC Advancements: Immunity Conference
Journal of neurology, neurosurgery, and psychiatry
Published

How well do plasma Alzheimer's disease biomarkers reflect the CSF amyloid status?

Authors
Jemma Hazan, Emily Abel, Miguel Rosa Grilo, Deborah Alawode, Ines Laranjinha, Amanda J Heslegrave, Kathy Y Liu, Jonathan M Schott, Robert Howard, Henrik Zetterberg, Nick C Fox
How well do plasma Alzheimer's disease biomarkers reflect the CSF amyloid status?
Brain : a journal of neurology
Published

Plasma p-tau217 in Alzheimer's disease: Lumipulse and ALZpath SIMOA head-to-head comparison

Authors
Andrea Pilotto, Virginia Quaresima, Chiara Trasciatti, Chiara Tolassi, Diego Bertoli, Cristina Mordenti, Alice Galli, Andrea Rizzardi, Salvatore Caratozzolo, Andrea Zancanaro, José Contador, Oskar Hansson, Sebastian Palmqvist, Giovanni De Santis, Henrik Zetterberg, Kaj Blennow, Duilio Brugnoni, Marc Suárez-Calvet, Nicholas J Ashton, Alessandro Padovani
Plasma p-tau217 in Alzheimer's disease: Lumipulse and ALZpath SIMOA head-to-head comparison
Journal of neuroinflammation
Published

Tyro3 and Gas6 are associated with white matter and myelin integrity in multiple sclerosis

Authors
Igal Rosenstein, Lenka Novakova, Hlin Kvartsberg, Anna Nordin, Sofia Rasch, Elzbieta Rembeza, Sofia Sandgren, Clas Malmeström, Stefanie Fruhwürth, Markus Axelsson, Kaj Blennow, Henrik Zetterberg, Jan Lycke
Tyro3 and Gas6 are associated with white matter and myelin integrity in multiple sclerosis
Nature neuroscience
Published

Author Correction: Dissection of artifactual and confounding glial signatures by single-cell sequencing of mouse and human brain

Authors
Samuel E Marsh, Alec J Walker, Tushar Kamath, Lasse Dissing-Olesen, Timothy R Hammond, T Yvanka de Soysa, Adam M H Young, Sarah Murphy, Abdulraouf Abdulraouf, Naeem Nadaf, Connor Dufort, Alicia C Walker, Liliana E Lucca, Velina Kozareva, Charles Vanderburg, Soyon Hong, Harry Bulstrode, Peter J Hutchinson, Daniel J Gaffney, David A Hafler, Robin J M Franklin, Evan Z Macosko, Beth Stevens
Author Correction: Dissection of artifactual and confounding glial signatures by single-cell sequencing of mouse and human brain
Nature structural & molecular biology
Published

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Authors
Pilar Álvarez Jerez, Peter Wild Crea, Daniel M Ramos, Emil K Gustavsson, Mandy Radefeldt, Andrey Damianov, Mary B Makarious, Oluwadamilola O Ojo, Kimberley J Billingsley, Laksh Malik, Kensuke Daida, Sarah Bromberek, Fangle Hu, Zachary Schneider, Aditya L Surapaneni, Julia Stadler, Mie Rizig, Huw R Morris, Caroline B Pantazis, Hampton L Leonard, Laurel Screven, Yue A Qi, Mike A Nalls, Sara Bandres-Ciga, John Hardy, Henry Houlden, Celeste Eng, Esteban González Burchard, Linda Kachuri, Chia-Ho Lin, Douglas L Black, Global Parkinson’s Genetics Program (GP2), Andrew B Singleton, Steffen Fischer, Peter Bauer, Xylena Reed, Mina Ryten, Christian Beetz, Michael Ward, Njideka U Okubadejo, Cornelis Blauwendraat
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1
Journal of neurology
Published

Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort

Authors
Dhamidhu Eratne, Qiao-Xin Li, Courtney Lewis, Christa Dang, Matthew J Y Kang, Jasleen Grewal, Samantha Loi, Mark Walterfang, Andrew H Evans, Charles B Malpas, Steve Pedrini, Ralph Martins, Pratishtha Chatterjee, Henrik Zetterberg, Kaj Blennow, Samuel F Berkovic, Alexander F Santillo, Steven Collins, Colin L Masters, Dennis Velakoulis, MiND Study Group
Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort
Alzheimer's & dementia (Amsterdam, Netherlands)
Published

Artificial intelligence-based rapid brain volumetry substantially improves differential diagnosis in dementia

Authors
Jan Rudolph, Johannes Rueckel, Jörg Döpfert, Wen Xin Ling, Jens Opalka, Christian Brem, Nina Hesse, Maria Ingenerf, Vanessa Koliogiannis, Olga Solyanik, Boj F Hoppe, Hanna Zimmermann, Wilhelm Flatz, Robert Forbrig, Maximilian Patzig, Boris-Stephan Rauchmann, Robert Perneczky, Oliver Peters, Josef Priller, Anja Schneider, Klaus Fliessbach, Andreas Hermann, Jens Wiltfang, Frank Jessen, Emrah Düzel, Katharina Buerger, Stefan Teipel, Christoph Laske, Matthis Synofzik, Annika Spottke, Michael Ewers, Peter Dechent, John-Dylan Haynes, Johannes Levin, Thomas Liebig, Jens Ricke, Michael Ingrisch, Sophia Stoecklein
Artificial intelligence-based rapid brain volumetry substantially improves differential diagnosis in dementia
Nature reviews. Immunology
Published

Neuroinflammation in Alzheimer disease

Authors
Michael T Heneka, Wiesje M van der Flier, Frank Jessen, Jeroen Hoozemanns, Dietmar Rudolf Thal, Delphine Boche, Frederic Brosseron, Charlotte Teunissen, Henrik Zetterberg, Andreas H Jacobs, Paul Edison, Alfredo Ramirez, Carlos Cruchaga, Jean-Charles Lambert, Agustin Ruiz Laza, Jose Vicente Sanchez-Mut, Andre Fischer, Sergio Castro-Gomez, Thor D Stein, Luca Kleineidam, Michael Wagner, Jonas J Neher, Colm Cunningham, Sim K Singhrao, Marco Prinz, Christopher K Glass, Johannes C M Schlachetzki, Oleg Butovsky, Kilian Kleemann, Philip L De Jaeger, Hannah Scheiblich, Guy C Brown, Gary Landreth, Miguel Moutinho, Jaime Grutzendler, Diego Gomez-Nicola, Róisín M McManus, Katrin Andreasson, Christina Ising, Deniz Karabag, Darren J Baker, Shane A Liddelow, Alexei Verkhratsky, Malu Tansey, Alon Monsonego, Ludwig Aigner, Guillaume Dorothée, Klaus-Armin Nave, Mikael Simons, Gabriela Constantin, Neta Rosenzweig, Alberto Pascual, Gabor C Petzold, Jonathan Kipnis, Carmen Venegas, Marco Colonna, Jochen Walter, Andrea J Tenner, M Kerry O'Banion, Joern R Steinert, Douglas L Feinstein, Magdalena Sastre, Kiran Bhaskar, Soyon Hong, Dorothy P Schafer, Todd Golde, Richard M Ransohoff, David Morgan, John Breitner, Renzo Mancuso, Sean-Patrick Riechers
Neuroinflammation in Alzheimer disease