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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. 

American journal of human genetics
Published
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
Authors
Claudia Manzoni, Demis A Kia, Raffaele Ferrari, Ganna Leonenko, Beatrice Costa, Valentina Saba, Edwin Jabbari, Manuela Mx Tan, Diego Albani, Victoria Alvarez, Ignacio Alvarez, Ole A Andreassen, Antonella Angiolillo, Andrea Arighi, Matt Baker, Luisa Benussi, Valentina Bessi, Giuliano Binetti, Daniel J Blackburn, Merce Boada, Bradley F Boeve, Sergi Borrego-Ecija, Barbara Borroni, Geir Bråthen, William S Brooks, Amalia C Bruni, Paola Caroppo, Sara Bandres-Ciga, Jordi Clarimon, Rosanna Colao, Carlos Cruchaga, Adrian Danek, Sterre Cm de Boer, Itziar de Rojas, Alfonso di Costanzo, Dennis W Dickson, Janine Diehl-Schmid, Carol Dobson-Stone, Oriol Dols-Icardo, Aldo Donizetti, Elise Dopper, Elisabetta Durante, Camilla Ferrari, Gianluigi Forloni, Francesca Frangipane, Laura Fratiglioni, Milica G Kramberger, Daniela Galimberti, Maurizio Gallucci, Pablo García-González, Roberta Ghidoni, Giorgio Giaccone, Caroline Graff, Neill R Graff-Radford, Jordan Grafman, Glenda M Halliday, Dena G Hernandez, Lena E Hjermind, John R Hodges, Guy Holloway, Edward D Huey, Ignacio Illán-Gala, Keith A Josephs, David S Knopman, Mark Kristiansen, John B Kwok, Isabelle Leber, Hampton L Leonard, Ilenia Libri, Alberto Lleo, Ian R Mackenzie, Gaganjit K Madhan, Raffaele Maletta, Marta Marquié, Ales Maver, Manuel Menendez-Gonzalez, Graziella Milan, Bruce L Miller, Christopher M Morris, Huw R Morris, Benedetta Nacmias, Judith Newton, Jørgen E Nielsen, Christer Nilsson, Valeria Novelli, Alessandro Padovani, Suvankar Pal, Florence Pasquier, Pau Pastor, Robert Perneczky, Borut Peterlin, Ronald C Petersen, Olivier Piguet, Yolande Al Pijnenburg, Annibale A Puca, Rosa Rademakers, Innocenzo Rainero, Lianne M Reus, Anna Mt Richardson, Matthias Riemenschneider, Ekaterina Rogaeva, Boris Rogelj, Sara Rollinson, Howard Rosen, Giacomina Rossi, James B Rowe, Elisa Rubino, Agustin Ruiz, Erika Salvi, Raquel Sanchez-Valle, Sigrid Botne Sando, Alexander F Santillo, Jennifer A Saxon, Johannes Cm Schlachetzki, Sonja W Scholz, Harro Seelaar, William W Seeley, Maria Serpente, Sandro Sorbi, Sabrina Sordon, Peter St George-Hyslop, Jennifer C Thompson, Christine Van Broeckhoven, Vivianna M Van Deerlin, Sven J Van der Lee, John Van Swieten, Fabrizio Tagliavini, Julie van der Zee, Arianna Veronesi, Emilia Vitale, Maria Landqvist Waldo, Jennifer S Yokoyama, Mike A Nalls, Parastoo Momeni, Andrew B Singleton, John Hardy, Valentina Escott-Price
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
The American journal of pathology
Published
Local Tetanus Begins with a Vesicle-Associated Membrane Protein Cleavage-Associated Neuromuscular Junction Paralysis around the Site of Tetanus Neurotoxin Release
Authors
Federico Fabris, Aram Megighian, Ornella Rossetto, Morena Simonato, Giampietro Schiavo, Marco Pirazzini, Cesare Montecucco
Local Tetanus Begins with a Vesicle-Associated Membrane Protein Cleavage-Associated Neuromuscular Junction Paralysis around the Site of Tetanus Neurotoxin Release
Aging cell
Published
Age-specific and compartment-dependent changes in mitochondrial homeostasis and cytoplasmic viscosity in mouse peripheral neurons
Authors
James N Sleigh, Francesca Mattedi, Sandy Richter, Emily Annuario, Kristal Ng, I Emilie Steinmark, Iveta Ivanova, István L Darabán, Parth P Joshi, Elena R Rhymes, Shirwa Awale, Gokhan Yahioglu, Jacqueline C Mitchell, Klaus Suhling, Giampietro Schiavo, Alessio Vagnoni
Age-specific and compartment-dependent changes in mitochondrial homeostasis and cytoplasmic viscosity in mouse peripheral neurons
Lancet Neurol
Published
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Authors
Emil K Gustavsson, Jordan Follett, Joanne Trinh, Sandeep K Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele T Hu, Huw R Morris, Manu Sharma, Ziv Gan-Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñan, Rim Amouri, Samia Ben Sassi, Faycel Hentati, Francesca Tonelli, Dario R Alessi, Matthew J Farrer
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses.
Immunity
Published
The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies
Authors
Barney Viengkhou, Emina Hayashida, Sarah McGlasson, Katie Emelianova, Deborah Forbes, Stewart Wiseman, Joanna Wardlaw, Rovin Verdillo, Sarosh R Irani, Darragh Duffy, Fredrik Piehl, Lipin Loo, Axel Pagenstecher, G Greg Neely, Yanick J Crow, Iain L Campbell, David P J Hunt, Markus J Hofer
The brain microvasculature is a primary mediator of interferon-α neurotoxicity in human cerebral interferonopathies
Molecular autism
Published
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
Authors
Laura Simões de Oliveira, Heather E O'Leary, Sarfaraz Nawaz, Rita Loureiro, Elizabeth C Davenport, Paul Baxter, Susana R Louros, Owen Dando, Emma Perkins, Julien Peltier, Matthias Trost, Emily K Osterweil, Giles E Hardingham, Michael A Cousin, Sumantra Chattarji, Sam A Booker, Tim A Benke, David J A Wyllie, Peter C Kind
Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder
Rheumatology (Oxford, England)
Published
Plasma interferon-alpha protein levels during pregnancy are associated with lower birth weight in systemic lupus erythematosus
Authors
Marit Stockfelt, Agnes Torell, Iva Gunnarsson, Elisabet Svenungsson, Agneta Zickert, Maria Majcuk Sennström, Estelle Trysberg, Anders A Bengtsson, Andreas Jönsen, Helena Strevens, Christopher Sjöwall, Muna Saleh, Sofia Pihl, Dag Leonard, Lars Rönnblom, Tansim Akhter, Kaj Blennow, Henrik Zetterberg, Bo Jacobsson, Anna-Carin Lundell, Anna Rudin
Plasma interferon-alpha protein levels during pregnancy are associated with lower birth weight in systemic lupus erythematosus
Frontiers in aging neuroscience
Published
Awareness of episodic memory and meta-cognitive profiles: associations with cerebrospinal fluid biomarkers at the preclinical stage of the Alzheimer's continuum
Authors
David López-Martos, Marc Suárez-Calvet, Marta Milà-Alomà, Juan Domingo Gispert, Carolina Minguillon, Clara Quijano-Rubio, Gwendlyn Kollmorgen, Henrik Zetterberg, Kaj Blennow, Oriol Grau-Rivera, Gonzalo Sánchez-Benavides
Awareness of episodic memory and meta-cognitive profiles: associations with cerebrospinal fluid biomarkers at the preclinical stage of the Alzheimer's continuum
Brain communications
Published
The PREVENT dementia programme: baseline demographic, lifestyle, imaging and cognitive data from a midlife cohort study investigating risk factors for dementia
Authors
Craig W Ritchie, Katie Bridgeman, Sarah Gregory, John T O'Brien, Samuel O Danso, Maria-Eleni Dounavi, Isabelle Carriere, David Driscoll, Robert Hillary, Ivan Koychev, Brian Lawlor, Lorina Naci, Li Su, Audrey Low, Elijah Mak, Paresh Malhotra, Jean Manson, Riccardo Marioni, Lee Murphy, Georgios Ntailianis, William Stewart, Graciela Muniz-Terrera, Karen Ritchie
The PREVENT dementia programme: baseline demographic, lifestyle, imaging and cognitive data from a midlife cohort study investigating risk factors for dementia
Radiology
Published
AmyloidPETNet: Classification of Amyloid Positivity in Brain PET Imaging Using End-to-End Deep Learning
Authors
Shuyang Fan, Maria Rosana Ponisio, Pan Xiao, Sung Min Ha, Satrajit Chakrabarty, John J Lee, Shaney Flores, Pamela LaMontagne, Brian Gordon, Cyrus A Raji, Daniel S Marcus, Arash Nazeri, Beau M Ances, Randall J Bateman, John C Morris, Tammie L S Benzinger, Aristeidis Sotiras, Alzheimer's Disease Neuroimaging Initiative
AmyloidPETNet: Classification of Amyloid Positivity in Brain PET Imaging Using End-to-End Deep Learning