Publication
The parkin V380L variant is a genetic modifier of Machado–Joseph disease with impact on mitophagy
Jonasz J. Weber, Leah Czisch, Priscila Pereira Sena, Florian Fath, Chrisovalantou Huridou, Natasa Schwarz, Rana D. Incebacak Eltemur, Anna Würth, Daniel Weishäupl, Miriam Döcker, Gunnar Blumenstock, Sandra Martins, Jorge Sequeiros, Guy A. Rouleau, Laura Bannach Jardim, Maria-Luiza Saraiva-Pereira, Marcondes C. França Jr., Carlos R. Gordon, Roy Zaltzman, Mario R. Cornejo-Olivas, Bart P. C. van de Warrenburg, Alexandra Durr, Alexis Brice, Peter Bauer, Thomas Klockgether, Ludger Schöls, Olaf Riess, Peter Bauer, José Berciano, Sylvia Boesch, Alexis Brice, Alexandra Durr, Sylvie Forlani, Paola Giunti, Heike Jacobi, Thomas Klockgether, Bela Melegh, Massimo Pandolfo, Olaf Riess, Tanja Schmitz-Hübsch, Ludger Schöls, Jörg B. Schulz, Giovanni Stevanin, Sandra Szymanski, Sophie Tezenas du Montcel, Dagmar Timmann, Bart P. C. van de Warrenburg, Thorsten Schmidt
Acta Neuropathologica, August 2024, Springer Science + Business Media
DOI: 10.1007/s00401-024-02762-6