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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. 

medRxiv : the preprint server for health sciences
Published

<em>APOE</em> stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

Authors
Jesper Qvist Thomassen, Leonard Hampton, Brittany Ulms, Benjamin Grenier-Boley, Sami Heikkinen, Pablo Garcia, Atahualapa Castillo-Morales, Masataka Kikuchi, Jungsoo Gim, Han Cao, Fahri Küçükali, Najaf Amin, Dabin Yoon, Itziar de Rojas, Pilar Alvarez Jerez, Victoria Alvarez, Beatrice Arosio, Celine Bellenguez, Sverre Bergh, Kimberly Billingsley, Cornelis Blauwendraat, Merce Boada, Barbara Borroni, Paola Bossù, María J Bullido, Antonio Daniele, Ángel Carracedo, Alexandre de Mendonça, Mark Cookson, Jürgen Deckert, Martin Dichgans, Srdjan Djurovic, Oriol Dols-Icardo, Carole Dufouil, Emrah Düzel, Valentina Escott-Price, Tormod Fladby, Laura Fratiglioni, Amy K Y Fu, Daniela Galimberti, Jose Maria García-Alberca, Vilmantas Giedraitis, Guillermo Garcia-Ribas, Caroline Graff, Timo Grimmer, Edna Grünblatt, OIivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Hemibach, Jakub Hort, Frank Jessen, Kendall Jensen, Caroline Jonson, Yoontae Kim, Nicole Kuznetsov, Ville Leinonen, Anssi Lipponen, Jiao Luo, Mary Makarious, Henna Martiskainen, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Pablo Mir, Akinori Miyashita, Susanne Moebus, Kin Y Mok, Laura Molina Porcel, Fermin Moreno, Benedetta Nacmias, Lucilla Parnetti, Pau Pastor, Jordi Pérez-Tur, Oliver Peters, Yolande A L Pijnenburg, Gerard Piñol-Ripoll, Julius Popp, Innocenzo Rainero, Luis M Real, Steffi Riedel-Heller, Eloy Rodriguez-Rodriguez, Arvid Rongve, Giacomina Rossi, Jose Luis Royo, Dan Rujescu, Ingvild Saltvedt, María Eugenia Sáez, Raquel Sánchez-Valle, Florentino Sanchez-Garcia, Nicolai Sandau, Nikolaos Scarmeas, Katja Scheffler, Norbert Scherbaum, Anja Schneider, Geir Selbæk, Davide Seripa, Vincenzo Solfrizzi, Marco Spallazzi, Alessio Squassina, Eystein Stordal, Niccoló Tesi, Lucio Tremolizzo, Kumar P Tripathi, Wiesje M van der Flier, Julie Williams, Jens Wiltfang, Dag Aarsland, Andrew B Singleton, Philippe Amouyel, Stéphanie Debette, Gael Nicolas, Sven van der Lee, Henne Holstege, Maria Victoria Fernandez, Patrick Gavin Kehoe, Kristel Sleegers, Martin Ingelsson, Roberta Ghidoni, Ole A Andreassen, Peter A Holmans, Pascual Sánchez-Juan, Rebecca Sims, Nancy Y Ip, Kun Ho Lee, Takeshi Ikeuchi, Alfredo Ramirez, Agustin Ruiz, Mikko Hiltunen, Jean-Charles Lambert, Cornelia van Duijn, Mike Nalls, Ruth Frikke-Schmidt
<em>APOE</em> stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease
Nature communications
Published

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS

Authors
Christoph Schweingruber, Jik Nijssen, Jonas Mechtersheimer, Stefan Reber, Mélanie Lebœuf, Niamh L O'Brien, Irene Mei, Erin Hedges, Michaela Keuper, Julio Aguila Benitez, Vlad Radoi, Martin Jastroch, Marc-David Ruepp, Eva Hedlund
Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS
Acta neuropathologica
Published

Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome-Alzheimer's disease

Authors
Clíona Farrell, Yazead Buhidma, Paige Mumford, Wendy E Heywood, Jenny Hällqvist, Lisi Flores-Aguilar, Elizabeth J Andrews, Negin Rahimzadah, Orjona Stella Taso, Eric Doran, Vivek Swarup, Elizabeth Head, Tammaryn Lashley, Kevin Mills, Christina E Toomey, Frances K Wiseman
Apolipoprotein E abundance is elevated in the brains of individuals with Down syndrome-Alzheimer's disease
JAMA neurology
Published

Evaluation of the Revised Criteria for Biological and Clinical Staging of Alzheimer Disease

Authors
Alexa Pichet Binette, Ruben Smith, Gemma Salvadó, Pontus Tideman, Isabelle Glans, Danielle van Westen, Colin Groot, Rik Ossenkoppele, Erik Stomrud, Piero Parchi, Henrik Zetterberg, Kaj Blennow, Niklas Mattsson-Carlgren, Shorena Janelidze, Sebastian Palmqvist, Oskar Hansson, Alzheimer’s Disease Neuroimaging Initiative
Evaluation of the Revised Criteria for Biological and Clinical Staging of Alzheimer Disease
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Disclosure of plasma p-tau217 measure improves diagnostic confidence in patients with Alzheimer's disease versus syndromes associated with frontotemporal lobar degeneration

Authors
Valentina Cantoni, Maria Sofia Cotelli, Matteo Rota, Antonella Alberici, Ilenia Libri, Hanna Huber, Kübra Tan, Roberta Ghidoni, Sonia Bellini, Henrik Zetterberg, Kaj Blennow, Nicholas J Ashton, Barbara Borroni
Disclosure of plasma p-tau217 measure improves diagnostic confidence in patients with Alzheimer's disease versus syndromes associated with frontotemporal lobar degeneration
Neurology
Published

Associations Between Changes in Levels of Phosphorylated Tau and Severity of Cognitive Impairment in Early Alzheimer Disease

Authors
Fernando Gonzalez-Ortiz, Bjørn-Eivind Kirsebom, Yara Yakoub, Julia K Gundersen, Lene Pålhaugen, Knut Waterloo, Per Selnes, Jonas Alexander Jarholm, Berglind Gísladóttir, Arvid Rongve, Ragnhild Eide Skogseth, Geir Bråthen, Dag Aarsland, Michael Turton, Peter Harrison, Henrik Zetterberg, Sylvia Villeneuve, Tormod Fladby, Kaj Blennow
Associations Between Changes in Levels of Phosphorylated Tau and Severity of Cognitive Impairment in Early Alzheimer Disease
Nature neuroscience
Published

Activity-driven myelin sheath growth is mediated by mGluR5

Authors
Philipp N Braaker, Xuelong Mi, Daniel Soong, Jenea M Bin, Katy Marshall-Phelps, Stephen Bradley, Silvia Benito-Kwiecinski, Julia Meng, Donia Arafa, Claire Richmond, Marcus Keatinge, Guoqiang Yu, Rafael G Almeida, David A Lyons
Activity-driven myelin sheath growth is mediated by mGluR5
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Misfolded α-synuclein co-occurrence with Alzheimer's disease proteinopathy

Authors
Erin M Jonaitis, Karen MacLeod, Jennifer Lamoureux, Beckie Jeffers, Rachel L Studer, John Middleton, Rachael E Wilson, Nathaniel A Chin, Ozioma C Okonkwo, Barbara B Bendlin, Sanjay Asthana, Cynthia M Carlsson, Catherine L Gallagher, Bruce Hermann, Sean McEvoy, Gwendlyn Kollmorgen, Henrik Zetterberg, Luis Concha-Marambio, Sterling C Johnson, Russ M Lebovitz, Rebecca E Langhough
Misfolded α-synuclein co-occurrence with Alzheimer's disease proteinopathy
Alzheimer's & dementia (Amsterdam, Netherlands)
Published

Cerebrospinal fluid YKL-40 relates to white matter hyperintensity progression in females but not males over a 6-year period

Authors
Amalia J Peterson, Yunyi Sun, Derek B Archer, Hailey A Adegboye, Elizabeth E Moore, Isabella Deberghes, Kimberly R Pechman, Niranjana Shashikumar, W Hudson Robb, Abigail W Workmeister, T Bryan Jackson, Dandan Liu, Logan Dumitrescu, L Taylor Davis, Bennett A Landman, Kaj Blennow, Henrik Zetterberg, Timothy J Hohman, Angela L Jefferson
Cerebrospinal fluid YKL-40 relates to white matter hyperintensity progression in females but not males over a 6-year period
Lancet (London, England)
Published

Efficacy and safety of low-dose IL-2 as an add-on therapy to riluzole (MIROCALS): a phase 2b, double-blind, randomised, placebo-controlled trial

Authors
Gilbert Bensimon, P Nigel Leigh, Timothy Tree, Andrea Malaspina, Christine Am Payan, Hang-Phuong Pham, Pieter Klaassen, Pamela J Shaw, Ahmad Al Khleifat, Maria D M Amador, Shahram Attarian, Simon M Bell, Stéphane Beltran, Emilien Bernard, William Camu, Philippe Corcia, Jean-Christophe Corvol, Philippe Couratier, Véronique Danel, Rabab Debs, Claude Desnuelle, Aikaterini Dimitriou, John Ealing, Florence Esselin, Marie-Céline Fleury, George H Gorrie, Aude-Marie Grapperon, Adèle Hesters, Raul Juntas-Morales, Ivan Kolev, Géraldine Lautrette, Nadine Le Forestier, Christopher J McDermott, Nicolas Pageot, François Salachas, Nikhil Sharma, Marie-Hélène Soriani, Jemeen Sreedharan, Juliette Svahn, Nick Verber, Annie Verschueren, Ozlem Yildiz, Carey M Suehs, Safaa Saker-Delye, Claudie Muller, Christophe Masseguin, Hana Hajduchova, Janine Kirby, Cecilia Garlanda, Massimo Locati, Henrik Zetterberg, Bernard Asselain, Ammar Al-Chalabi, MIROCALS Study Group
Efficacy and safety of low-dose IL-2 as an add-on therapy to riluzole (MIROCALS): a phase 2b, double-blind, randomised, placebo-controlled trial
Cell reports
Published

A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons

Authors
Benedikt V Hölbling, Yashica Gupta, Paolo M Marchi, Magda L Atilano, Michael Flower, Enric Ureña, Rajkumar A Goulden, Hannah K Dobbs, Eszter Katona, Alla Mikheenko, Ashling Giblin, Ali Raza Awan, Chloe L Fisher-Ward, Niamh O'Brien, Deniz Vaizoglu, Liam Kempthorne, Katherine M Wilson, Lauren M Gittings, Mireia Carcolé, Marc-David Ruepp, Sarah Mizielinska, Linda Partridge, Pietro Fratta, Sarah J Tabrizi, Bhuvaneish T Selvaraj, Siddharthan Chandran, Emma Armstrong, Paul Whiting, Adrian M Isaacs
A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons
Alzheimer's & dementia : the journal of the Alzheimer's Association
Published

Plasma GFAP for populational enrichment of clinical trials in preclinical Alzheimer's disease

Authors
Bruna Bellaver, Guilherme Povala, Pamela C L Ferreira, Guilherme Bauer-Negrini, Firoza Z Lussier, Douglas T Leffa, João Pedro Ferrari-Souza, Matheus S Rodrigues, Livia Amaral, Markley S Oliveira, Carolina Soares, Andreia Rocha, Pampa Saha, Nesrine Rahmouni, Arthur Macedo, Cécile Tissot, Joseph Therriault, Stijn Servaes, Jesse Klostranec, Maxime Montembeault, Andréa L Benedet, Nicholas J Ashton, Rebecca Langhough Koscik, Tobey J Betthauser, Brad T Christian, Rachael Wilson, Gallen Triana-Baltzer, Paolo Vitali, Serge Gauthier, Henrik Zetterberg, Kaj Blennow, Thomas K Karikari, Dana Tudorascu, Eduardo R Zimmer, Sterling Johnson, Pedro Rosa-Neto, Tharick A Pascoal
Plasma GFAP for populational enrichment of clinical trials in preclinical Alzheimer's disease