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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cécilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine Van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stévanin, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Alexandra Durr, Alexandra Durr, Alexandra Durr, Giovanni Stevanin, Alexis Brice, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Perrine Charles, Charles Duyckaerts, Bertrand Fontaine, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Cyril Goizet, Didier Hannequin, Jamïlé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Cécilia Marelli, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Mériem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha S. Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Mégarbané, Ali Benomar, Berry Kremer, Willeke van Roon‐Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Leal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir Kostić, Idoia Rouco Axpe, Liena E. O. Elsayed, Martin Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Suran Nethisinghe, Thomas T. Warner, Nicholas Wood

2020Genetics in Medicine49 citationsDOIOpen Access PDF

Topics & Concepts

Cognitive impairmentNeuroscienceMedicineCognitionAtaxiaCerebellumBiologyGenetic Neurodegenerative DiseasesNeurological diseases and metabolismGenomics and Rare Diseases
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment | Litcius