Multiomic analyses direct hypotheses for Creutzfeldt-Jakob disease risk genes

Source
Brain - ISSN 0006-8950-148:9 (2025) p. 3350-3363
Author(s)
    Fahri Küçükali, Elizabeth Hill, Tijs Watzeels, Holger Hummerich, Tracy Campbell, Lee Darwent, Steven Collins, Christiane Stehmann, Gabor G. Kovacs, Michael D. Geschwind, Karl Frontzek, Herbert Budka, Ellen Gelpi, Adriano Aguzzi, Sven J. van der Lee, Cornelia M. van Duijn, Pawel P. Liberski, Miguel Calero, Pascual Sanchez-Juan, Elodie Bouaziz-Amar, Jean-Louis Laplanche, Stephane Haik, Jean-Phillipe Brandel, Angela Mammana, Sabina Capellari, Anna Poleggi, Anna Ladogana, Dorina Tiple, Saima Zafar, Stephanie Booth, Gerard H. Jansen, Ausrine Areskeviciute, Eva Lobner Lund, Katie Glisic, Piero Parchi, Peter Hermann, Inga Zerr, Jiri Safar, Pierluigi Gambetti, Brian S. Appleby, John Collinge, Kristel Sleegers, Simon Mead

Analysis of the splicing landscape of the frontal cortex in FTLD-TDP reveals subtype specific patterns and cryptic splicing

Source
Acta neuropathologica - ISSN 0001-6322-149:1 (2025) p. 1-20
Author(s)

Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing

Source
Nature communications - ISSN 2041-1723-16:1 (2025) p. 1-19
Author(s)
    Cyril Pottier, Fahri Küçükali, Matt Baker, Anthony Batzler, Gregory D. Jenkins, Marka van Blitterswijk, Cristina Vicente, Wouter De Coster, Sarah Wynants, Pieter Van de Walle, Owen A. Ross, Melissa E. Murray, Júlia Faura Llorens, Stephen J. Haggarty, Jeroen GJ. van Rooij, Merel O. Mol, Ging-Yuek R. Hsiung, Caroline Graff, Linn Oeijerstedt, Manuela Neumann, Yan Asmann, Shannon K. Mcdonnell, Saurabh Baheti, Keith A. Josephs, Jennifer L. Whitwell, Kevin F. Bieniek, Leah Forsberg, Hilary Heuer, Argentina Lario Lago, Ethan G. Geier, Jennifer S. Yokoyama, Alexis P. Oddi, Margaret Flanagan, Qinwen Mao, John R. Hodges, John B. Kwok, Kimiko Domoto-Reilly, Matthis Synofzik, Carlo Wilke, Chiadi Onyike, Bradford C. Dickerson, Bret M. Evers, Brittany N. Dugger, David G. Munoz, Julia Keith, Lorne Zinman, Ekaterina Rogaeva, Eunran Suh, Kristel Sleegers, Rosa Rademakers

X-chromosome-wide association study for Alzheimer's disease

Source
Molecular psychiatry - ISSN 1359-4184-30 (2024) p. 2335-2346
Author(s)
    Julie Le Borgne, Lissette Gomez, Sami Heikkinen, Najaf Amin, Shahzad Ahmad, Seung Hoan Choi, Joshua Bis, Benjamin Grenier-Boley, Omar Garcia Rodriguez, Luca Kleineidam, Juan Young, Kumar Parijat Tripathi, Lily Wang, Achintya Varma, Rafael Campos-Martin, Sven van der Lee, Vincent Damotte, Itziar de Rojas, Sagnik Palmal, Richard Lipton, Eric Reiman, Ann McKee, Philip De Jager, William Bush, Scott Small, Allan Levey, Andrew Saykin, Tatiana Foroud, Marilyn Albert, Bradley Hyman, Ronald Petersen, Steven Younkin, Mary Sano, Thomas Wisniewski, Robert Vassar, Julie Schneider, Victor Henderson, Erik Roberson, Charles DeCarli, Frank LaFerla, James Brewer, Russell Swerdlow, Linda Van Eldik, Kara Hamilton-Nelson, Henry Paulson, Adam Naj, Oscar Lopez, Fahri Küçükali, Kristel Sleegers, Celine Bellenguez