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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

Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration

Authors
Julie F H De Houwer, Elise G Dopper, Renee van Buuren, Marijke Stokkel, Liset de Boer, Tine Swartenbroekx, Pam A Boesjes, Ana Rajicic, Aitana Sogorb-Esteve, Arabella Bouzigues, Lucy L Russell, Phoebe H Foster, Eve Ferry-Bolder, John C van Swieten, Lize C Jiskoot, Raquel Sanchez-Valle, Robert Laforce, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonça, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Benedetta Nacmias, Markus Otto, Maxime Bertoux, Thibaud Lebouvier, Simon Ducharme, Chris R Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Henrik Zetterberg, Jonathan D Rohrer, Betty M Tijms, Yolande A L Pijnenburg, Charlotte Teunissen, Harro Seelaar
Distinct proteomic CSF profiles in genetic frontotemporal lobar degeneration
medRxiv : the preprint server for health sciences
Published

Epigenome-Wide Association Study in Asian Cohort Identifies Novel DNA Methylation Markers for Carotid Intima-Media Thickness

Authors
Konstanze Tan, Sarah E Harris, Jane Maddock, Darwin Tay, Pritesh R Jain, HELIOS Study Team, Shi Qi Mok, Maxime Herbrard, Ulf Schminke, Can Can Xue, Liuh Ling Goh, Theresia Mina, Alexander Teumer, Weng Khong Lim, Khai Pang Leong, Khung Keong Yeo, Ching-Yu Cheng, Xueling Sim, Lee Eng Sing, Joanna M Wardlaw, Henry Völzke, Andrew Wong, Simon R Cox, Rinkoo Dalan, Abbas Dehghan, Marie Loh
Epigenome-Wide Association Study in Asian Cohort Identifies Novel DNA Methylation Markers for Carotid Intima-Media Thickness
medRxiv : the preprint server for health sciences
Published

Genetic drivers of progression in Alzheimer's disease are distinct from disease risk

Authors
Celeste E Cohen, Shane Fernandez, Umran Yaman, Ahmad R Ehyaei, Tenielle Porter, Eleanor O'Brien, Australian Imaging Biomarkers and Lifestyle Study, Alzheimer’s Disease Neuroimaging Initiative, Paul Maruff, John A Hardy, Simon M Laws, Dervis Salih, Maryam Shoai
Genetic drivers of progression in Alzheimer's disease are distinct from disease risk
Brain and neuroscience advances
Published

The UK National Mouse Genetics Network: Translating genetic findings using preclinical mouse models to better understand neurodevelopmental, neuropsychiatric and neurodegenerative disorders

Authors
Sevda T Boyanova, Nicholas E Clifton, Karolina Dec, Michal M Milczarek, MURIDAE Cluster, Anthony R Isles
The UK National Mouse Genetics Network: Translating genetic findings using preclinical mouse models to better understand neurodevelopmental, neuropsychiatric and neurodegenerative disorders
bioRxiv : the preprint server for biology
Published

Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential

Authors
Anna-Leigh Brown, Matteo Zanovello, Alla Mikheenko, Dario Dattilo, Flaminia Pellegrini, Sam Bryce-Smith, Francesca Mattedi, Puja R Mehta, Jose Norberto S Vargas, NYGC ALS Consortium, Jack Humphrey, Matthew J Keuss, Pietro Fratta
Sensitivity to TDP-43 loss and degradation resistance determine cryptic exon biomarker potential
bioRxiv : the preprint server for biology
Published

<em>APOE</em> E4 Alzheimer's Risk Converges on an Oligodendrocyte Subtype in the Human Entorhinal Cortex

Authors
Louise A Huuki-Myers, Heena R Divecha, Svitlana V Bach, Madeline R Valentine, Nicholas J Eagles, Bernard Mulvey, Rahul A Bharadwaj, Ruth Zhang, James R Evans, Melissa Grant-Peters, Ryan A Miller, Joel E Kleinman, Shizhong Han, Thomas M Hyde, Stephanie C Page, Daniel R Weinberger, Keri Martinowich, Mina Ryten, Kristen R Maynard, Leonardo Collado-Torres
<em>APOE</em> E4 Alzheimer's Risk Converges on an Oligodendrocyte Subtype in the Human Entorhinal Cortex
bioRxiv : the preprint server for biology
Published

Lipid droplets promote the aberrant liquid-liquid phase separation of alpha-synuclein leading to impaired energy homeostasis

Authors
Jose Cevallos, Elena Eubanks, Sunghoo Jung, Yiming Huang, Elyse Guadagno, Neeharika Rao Suvvari, Aryan Doshi, Nitya Ravinutala, Alejandro Mosera, Nagendran Ramalingam, Arati Tripathi, Tim Bartels, Ulf Dettmer, Eleanna Kara
Lipid droplets promote the aberrant liquid-liquid phase separation of alpha-synuclein leading to impaired energy homeostasis
Molecular neurodegeneration
Published

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease

Authors
Olav M Andersen, Matthijs W J de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G Jensen, Christa de Geus, Rosalina van Spaendonk, Maartje Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W Beecham, Céline Bellenguez, Claudine Berr, Joshua C Bis, Anne Boland, Paola Bossù, Femke Bouwman, Jose Bras, Camille Charbonnier, Jordi Clarimon, Carlos Cruchaga, Antonio Daniele, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Nicola Denning, Anita L DeStefano, Oriol Dols-Icardo, Cornelia M van Duijn, Lindsay A Farrer, Maria Victoria Fernández, Wiesje M van der Flier, Nick C Fox, Daniela Galimberti, Emmanuelle Genin, Johan J P Gille, Benjamin Grenier-Boley, Detelina Grozeva, Yann Le Guen, Rita Guerreiro, Jonathan L Haines, Clive Holmes, Holger Hummerich, M Arfan Ikram, M Kamran Ikram, Amit Kawalia, Robert Kraaij, Jean-Charles Lambert, Marc Lathrop, Afina W Lemstra, Alberto Lleó, Richard M Myers, Marcel M A M Mannens, Rachel Marshall, Eden R Martin, Carlo Masullo, Richard Mayeux, Simon Mead, Patrizia Mecocci, Alun Meggy, Merel O Mol, Benedetta Nacmias, Adam C Naj, Valerio Napolioni, J Nicholas Cochran, Gaël Nicolas, Florence Pasquier, Pau Pastor, Margaret A Pericak-Vance, Yolande A L Pijnenburg, Fabrizio Piras, Olivier Quenez, Alfredo Ramirez, Rachel Raybould, Richard Redon, Marcel J T Reinders, Anne-Claire Richard, Steffi G Riedel-Heller, Fernando Rivadeneira, Jeroen G J van Rooij, Stéphane Rousseau, Natalie S Ryan, Pascual Sanchez-Juan, Gerard D Schellenberg, Philip Scheltens, Jonathan M Schott, Sudha Seshadri, Daoud Sie, Rebecca Sims, Erik A Sistermans, Sandro Sorbi, John C van Swieten, Betty Tijms, André G Uitterlinden, Pieter Jelle Visser, Michael Wagner, David Wallon, Li-San Wang, Julie Williams, Jennifer S Yokoyama, Aline Zarea, Sven J van der Lee, Johan G Olsen, Marc Hulsman, Henne Holstege
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease
Journal of neurochemistry
Published

Clinical Validation of Novel Immunoassays for Plasma Phosphorylated Tau 217, 212, 181, 231, and Brain-Derived Tau Across the Biochemical Spectrum of Alzheimer's Disease

Authors
Maciej Dulewicz, Przemysław Radosław Kac, Fernando Gonzalez Ortiz, Thomas K Karikari, Agnieszka Kulczyńska-Przybik, Barbara Mroczko, Michael Turton, Peter Harrison, Manuel Maler, Timo Oberstein, Johannes Kornhuber, Jörg Hanrieder, Henrik Zetterberg, Kaj Blennow, Piotr Lewczuk
Clinical Validation of Novel Immunoassays for Plasma Phosphorylated Tau 217, 212, 181, 231, and Brain-Derived Tau Across the Biochemical Spectrum of Alzheimer's Disease
EMBO molecular medicine
Published

Prediction of continuous amyloid positron emission tomography with fluid measures of phosphorylated tau and β-amyloid

Authors
Niklas Mattsson-Carlgren, Linda Karlsson, Weizhong Tang, Kaj Blennow, Henrik Zetterberg, Randall J Bateman, Suzanne E Schindler, Nicolas Barthelemy, Sebastian Palmqvist, Erik Stomrud, Shorena Janelidze, Oskar Hansson
Prediction of continuous amyloid positron emission tomography with fluid measures of phosphorylated tau and β-amyloid