A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors

Bron
Alzheimer's research & therapy - ISSN 1758-9193-16:1 (2024) p. 1-13
Auteur(s)
    Imogen J. Swift, Rosa Rademakers, Nicole Finch, Matt Baker, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Giacomina Rossi, Matthis Synofzik, Carlo Wilke, David Mengel, Caroline Graff, Leonel T. Takada, Raquel Sanchez-Valle, Anna Antonell, Daniela Galimberti, Chiara Fenoglio, Maria Serpente, Marina Arcaro, Stefanie Schreiber, Stefan Vielhaber, Philipp Arndt, Isabel Santana, Maria Rosario Almeida, Fermin Moreno, Myriam Barandiaran, Alazne Gabilondo, Johannes Stubert, Estrella Gomez-Tortosa, Pablo Agueero, M. Jose Sainz, Tomohito Gohda, Maki Murakoshi, Nozomu Kamei, Sarah Kittel-Schneider, Andreas Reif, Johannes Weigl, Jinlong Jian, Chuanju Liu, Ginette Serrero, Thomas Greither, Gerit Theil, Ebba Lohmann, Stefano Gazzina, Silvia Bagnoli, Giovanni Coppola, Amalia Bruni, Mirja Quante, Philip Van Damme, Jonathan D. Rohrer

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

Bron
Acta neuropathologica - ISSN 0001-6322-147:1 (2024) p. 1-19
Auteur(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

Progression to corticobasal syndrome : a longitudinal study of patients with nonfluent primary progressive aphasia and primary progressive apraxia of speech

Bron
Journal of neurology - ISSN 0340-5354- (2024) p. 1-12
Auteur(s)
    Danna P. Garcia-Guaqueta, Hugo Botha, Rene L. Utianski, Joseph R. Duffy, Heather M. Clark, Austin W. Goodrich, Nha Trang Thu Pham, Mary M. Machulda, Matt Baker, Rosa Rademakers, Jennifer L. Whitwell, Keith A. Josephs

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

Bron
The Lancet: neurology - ISSN 1474-4465-23:5 (2024) p. 487-499
Auteur(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

Bron
Nature neuroscience - ISSN 1097-6256-27:4 (2024) p. 643-655
Auteur(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