Abundant transcriptomic alterations in the human cerebellum of patients with a C9orf72 repeat expansion

Source
Acta neuropathologica - ISSN 0001-6322-147:1 (2024) p. 1-19
Author(s)
    Evan Udine, Mariely DeJesus-Hernandez, Shulan Tian, Sofia Pereira das Neves, Richard Crook, NiCole A. Finch, Matthew C. Baker, Cyril Pottier, Neill R. Graff-Radford, Bradley F. Boeve, Ronald C. Petersen, David S. Knopman, Keith A. Josephs, Bjorn Oskarsson, Sandro De Mesquita, Leonard Petrucelli, Tania F. Gendron, Dennis W. Dickson, Rosa Rademakers, Marka van Blitterswijk

MAPT H2 haplotype and risk of Pick's disease in the Pick's disease International Consortium : a genetic association study.

Source
The Lancet: neurology - ISSN 1474-4465-23:5 (2024) p. 487-499
Author(s)
    Rebecca R. Valentino, William J. Scotton, Shanu F. Roemer, Tammaryn Lashley, Michael G. Heckman, Maryam Shoai, Alejandro Martinez-Carrasco, Nicole Tamvaka, Ronald L. Walton, Matthew C. Baker, Hannah L. Macpherson, Raquel Real, Alexandra I. Soto-Beasley, Kin Mok, Tamas Revesz, Elizabeth A. Christopher, Michael DeTure, William W Seeley, Edward B. Lee, Matthew P. Frosch, Laura Molina-Porcel, Tamar Gefen, Javier Redding-Ochoa, Bernardino Ghetti, Andrew C. Robinson, Christopher Kobylecki, James B. Rowe, Thomas G. Beach, Andrew F. Teich, Julia L. Keith, Istvan Bodi, Glenda M. Halliday, Marla Gearing, Thomas Arzberger, Christopher M. Morris, Charles L White, Naguib Mechawar, Susana Boluda, Ian R. MacKenzie, Catriona McLean, Matthew D. Cykowski, Shih-Hsiu J. Wang, Caroline Graff, Rashed M. Nagra, Gabor G. Kovacs, Giorgio Giaccone, Rosa Rademakers, Anne Sieben, Peter Paul De Deyn, Pick's disease International Consortium

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons

Source
Nature neuroscience - ISSN 1097-6256-27:4 (2024) p. 643-655
Author(s)
    Carmelo Milioto, Mireia Carcole, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S. Harris, Byung Il Lee, Mengke Yang, Robert A. Ellingford, Raja S. Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M. Smeeth, Mirjam L. Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N. Coyne, Pietro Fratta, Dario R. Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M.C. Fisher, Adrian M. Isaacs

Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases

Source
Brain - ISSN 0006-8950-147:4 (2024) p. 1483-1496
Author(s)
    Nick Corriveau-Lecavalier, Leland R. Barnard, Hugo Botha, Jonathan Graff-Radford, Vijay K. Ramanan, Jeyeon Lee, Ellen Dicks, Rosa Rademakers, Bradley F. Boeve, Mary M. Machulda, Julie A. Fields, Dennis W. Dickson, Neill Graff-Radford, David S. Knopman, Val J. Lowe, Ronald C. Petersen, Clifford R. Jack Jr, David T. Jones

Local structural preferences in shaping tau amyloid polymorphism

Source
Nature communications - ISSN 2041-1723-15:1 (2024) p. 1-16
Author(s)
    Nikolaos N Louros, Martin Wilkinson, Grigoria Tsaka, Meine Ramakers, Chiara Morelli, Teresa Garcia, Rodrigo Gallardo, Sam D'Haeyer, Vera Goossens, Dominique Audenaert, Dietmar Rudolf Thal, Ian R. Mackenzie, Rosa Rademakers, Neil A. Ranson, Sheena E. Radford, Frederic Rousseau, Joost Schymkowitz