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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 reports
Published

The neuron mixer and its impact on human brain dynamics

Authors
Charlotte E Luff, Robert Peach, Emma-Jane Mallas, Edward Rhodes, Felix Laumann, Edward S Boyden, David J Sharp, Mauricio Barahona, Nir Grossman
The neuron mixer and its impact on human brain dynamics
Nature biotechnology
Published

Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq

Authors
Bernardo Aguzzoli Heberle, J Anthony Brandon, Madeline L Page, Kayla A Nations, Ketsile I Dikobe, Brendan J White, Lacey A Gordon, Grant A Fox, Mark E Wadsworth, Patricia H Doyle, Brittney A Williams, Edward J Fox, Anantharaman Shantaraman, Mina Ryten, Sara Goodwin, Elena Ghiban, Robert Wappel, Senem Mavruk-Eskipehlivan, Justin B Miller, Nicholas T Seyfried, Peter T Nelson, John D Fryer, Mark T W Ebbert
Mapping medically relevant RNA isoform diversity in the aged human frontal cortex with deep long-read RNA-seq
Human molecular genetics
Published

PSMC5 insufficiency and P320R mutation impair proteasome function

Authors
Zhong-Qiu Yu, Jenny Carmichael, Galen A Collins, Maria Daniela D'Agostino, Mathieu Lessard, Helen V Firth, Pooja Harijan, Andrew E Fry, John Dean, Jiuchun Zhang, Usha Kini, Alfred L Goldberg, David C Rubinsztein
PSMC5 insufficiency and P320R mutation impair proteasome function
JAMA network open
Published

Genetic Complexities of Cerebral Small Vessel Disease, Blood Pressure, and Dementia

Authors
Muralidharan Sargurupremraj, Aicha Soumaré, Joshua C Bis, Ida Surakka, Tuuli Jürgenson, Pierre Joly, Maria J Knol, Ruiqi Wang, Qiong Yang, Claudia L Satizabal, Alexander Gudjonsson, Aniket Mishra, Vincent Bouteloup, Chia-Ling Phuah, Cornelia M van Duijn, Carlos Cruchaga, Carole Dufouil, Geneviève Chêne, Oscar L Lopez, Bruce M Psaty, Christophe Tzourio, Philippe Amouyel, Hieab H Adams, Hélène Jacqmin-Gadda, Mohammad Arfan Ikram, Vilmundur Gudnason, Lili Milani, Bendik S Winsvold, Kristian Hveem, Paul M Matthews, W T Longstreth, Sudha Seshadri, Lenore J Launer, Stéphanie Debette
Genetic Complexities of Cerebral Small Vessel Disease, Blood Pressure, and Dementia
Cell reports
Published

Phenotypic and spatial heterogeneity of brain myeloid cells after stroke is associated with cell ontogeny, tissue damage, and brain connectivity

Authors
Anirudh Patir, Jack Barrington, Stefan Szymkowiak, Gaia Brezzo, Dana Straus, Alessio Alfieri, Lucas Lefevre, Zhaoyuan Liu, Florent Ginhoux, Neil C Henderson, Karen Horsburgh, Prakash Ramachandran, Barry W McColl
Phenotypic and spatial heterogeneity of brain myeloid cells after stroke is associated with cell ontogeny, tissue damage, and brain connectivity
Neuro-degenerative diseases
Published

The Taxonomy of Subjective Cognitive Decline: Proposal and First Clinical Evidence from the Geneva Memory Clinic Cohort

Authors
Federica Ribaldi, Rafael Palomo, Daniele Altomare, Max Scheffler, Frederic Assal, Nicholas J Ashton, Henrik Zetterberg, Kaj Blennow, Marc Abramowicz, Valentina Garibotto, Christian Chicherio, Giovanni B Frisoni
The Taxonomy of Subjective Cognitive Decline: Proposal and First Clinical Evidence from the Geneva Memory Clinic Cohort
Alzheimer's research & therapy
Published

Blood biomarkers of neurodegeneration associate differently with amyloid deposition, medial temporal atrophy, and cerebrovascular changes in APOE ε4-enriched cognitively unimpaired elderly

Authors
Mikko Koivumäki, Laura Ekblad, Juan Lantero-Rodriguez, Nicholas J Ashton, Thomas K Karikari, Semi Helin, Riitta Parkkola, Jyrki Lötjönen, Henrik Zetterberg, Kaj Blennow, Juha O Rinne, Anniina Snellman
Blood biomarkers of neurodegeneration associate differently with amyloid deposition, medial temporal atrophy, and cerebrovascular changes in APOE ε4-enriched cognitively unimpaired elderly
Computers in biology and medicine
Published

Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease

Authors
Alicia Gómez-Pascual, Talel Naccache, Jin Xu, Kourosh Hooshmand, Asger Wretlind, Martina Gabrielli, Marta Tiffany Lombardo, Liu Shi, Noel J Buckley, Betty M Tijms, Stephanie J B Vos, Mara Ten Kate, Sebastiaan Engelborghs, Kristel Sleegers, Giovanni B Frisoni, Anders Wallin, Alberto Lleó, Julius Popp, Pablo Martinez-Lage, Johannes Streffer, Frederik Barkhof, Henrik Zetterberg, Pieter Jelle Visser, Simon Lovestone, Lars Bertram, Alejo J Nevado-Holgado, Alice Gualerzi, Silvia Picciolini, Petroula Proitsi, Claudia Verderio, Juan A Botía, Cristina Legido-Quigley
Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease
Annals of clinical and translational neurology
Published

Alzheimer's Disease and Small Vessel Disease Differentially Affect White Matter Microstructure

Authors
Mario Tranfa, Luigi Lorenzini, Lyduine E Collij, David Vállez García, Silvia Ingala, Giuseppe Pontillo, Leonard Pieperhoff, Alessio Maranzano, Robin Wolz, Sven Haller, Kaj Blennow, Giovanni Frisoni, Carole H Sudre, Gael Chételat, Michael Ewers, Pierre Payoux, Adam Waldman, Pablo Martinez-Lage, Adam J Schwarz, Craig W Ritchie, Joanna M Wardlaw, Juan Domingo Gispert, Arturo Brunetti, Henk J M M Mutsaerts, Alle Meije Wink, Frederik Barkhof
Alzheimer's Disease and Small Vessel Disease Differentially Affect White Matter Microstructure