Genetic, transcriptomic, histological, and biochemical analysis of progressive supranuclear palsy implicates glial activation and novel risk genes

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Nature communications - ISSN 2041-1723-15:1 (2024) p. 1-17
Auteur(s)
    Kurt Farrell, Jack Humphrey, Timothy Chang, Yi Zhao, Yuk Yee Leung, Pavel P. Kuksa, Vishakha Patil, Wan-Ping Lee, Amanda B. Kuzma, Otto Valladares, Laura B. Cantwell, Hui Wang, Ashvin Ravi, Claudia De Sanctis, Natalia Han, Thomas D. Christie, Robina Afzal, Shrishtee Kandoi, Kristen Whitney, Margaret M. Krassner, Hadley Ressler, SoongHo Kim, Diana Dangoor, Megan A. Iida, Alicia Casella, Ruth H. Walker, Melissa J. Nirenberg, Alan E. Renton, Bergan Babrowicz, Giovanni Coppola, Towfique Raj, Guenter U. Hoeglinger, Ulrich Mueller, Lawrence I. Golbe, Huw R. Morris, John Hardy, Tamas Revesz, Tom T. Warner, Zane Jaunmuktane, Kin Y. Mok, Rosa Rademakers, Dennis W. Dickson, Owen A. Ross, Li-San Wang, Alison Goate, Gerard Schellenberg, Daniel H. Geschwind, John F. Crary, Adam Naj

Association of initial side of brain atrophy with clinical features and disease progression in patients with GRN frontotemporal dementia

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Neurology - ISSN 0028-3878-103:11 (2024) p. 1-14
Auteur(s)
    Sergi Borrego-Ecija, Jordi Junca-Parella, Marijne Vandebergh, Agnes Perez Millan, Mircea Balasa, Albert Llado, Arabella Bouzigues, Lucy Louise Russell, Phoebe H. Foster, Eve Ferry-Bolder, John C. Van Swieten, Lize Corrine Jiskoot, Harro Seelaar, Robert Laforce Jr, Caroline Graff, Daniela Galimberti, Rik Vandenberghe, Alexandre de Mendonca, Pietro Tiraboschi, Isabel Santana, Alexander Gerhard, Johannes Levin, Sandro Sorbi, Markus Otto, Florence Pasquier, Simon Ducharme, Christopher Butler, Isabelle Le Ber, Elizabeth Finger, Maria Carmela Tartaglia, Mario Masellis, James B. Rowe, Matthis Synofzik, Fermin Moreno, Barbara Borroni, Rosa Rademakers, Jonathan Daniel Rohrer, Raquel Sanchez-Valle

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR

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Genome research - ISSN 1088-9051- (2024) p. 1-8
Auteur(s)

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia

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The American journal of human genetics - ISSN 0002-9297-111:7 (2024) p. 1316-1329
Auteur(s)
    Claudia Manzoni, Demis A. Kia, Raffaele Ferrari, Ganna Leonenko, Beatrice Costa, Valentina Saba, Edwin Jabbari, Manuela M. X. 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 Brathen, William S. Brooks, Amalia C. Bruni, Paola Caroppo, Sara Bandres-Ciga, Jordi Clarimon, Rosanna Colao, Carlos Cruchaga, Adrian Danek, Sterre C. M. 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, Rosa Rademakers, Christine Van Broeckhoven, Julie van der Zee, Valentina Escott-Price

Prognostic clinical and biological markers for amyotrophic lateral sclerosis disease progression : validation and implications for clinical trial design and analysis

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EBioMedicine - ISSN 2352-3964-108 (2024) p. 1-15
Auteur(s)
    Michael Benatar, Eric A. Macklin, Andrea Malaspina, Mary-Louise Rogers, Eran Hornstein, Vittoria Lombardi, Danielle Renfrey, Stephanie Shepheard, Iddo Magen, Yahel Cohen, Volkan Granit, Jeffrey M. Statland, Jeannine M. Heckmann, Rosa Rademakers, Caroline A. McHutchison, Leonard Petrucelli, Corey T. McMillan, Joanne Wuu