Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (vol 22, pg 1851, 2020)

Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha 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 Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood
Genetics in Medicine. 2021-10-01; 23(10): 2021
DOI: 10.1038/S41436-020-01064-Y


Read on PubMed

---

1. Genet Med. 2021 Oct;23(10):2021. doi: 10.1038/s41436-020-01064-y.

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

Roux T(#)(1), Barbier M(#)(1), Papin M(#)(1)(2), Davoine CS(1)(2), Sayah S(1),
Coarelli G(1), Charles P(3), Marelli C(4), Parodi L(1), Tranchant C(5), Goizet
C(6), Klebe S(7), Lohmann E(8), Van Maldergem L(9), van Broeckhoven C(10),
Coutelier M(1)(2), Tesson C(1), Stevanin G(1)(2), Duyckaerts C(1), Brice A(1),
Durr A(11); SPATAX network.

Collaborators: Durr A, Stevanin G, Brice A, Darios F, Forlani S, Site PS, Banneau
G, Cazeneuve C, Charles P, Duyckaerts C, Fontaine B, Azulay JP, Boesfplug-Tanguy
O, Goizet C, Hannequin D, Hazan J, Burgo A, Verny C, Koenig M, Labauge P, Marelli
C, N’guyen K, Rodriguez D, Belarbi S, Hamri A, Tazir M, Boesch S, Pandolfo M,
Laura J, Guergueltcheva V, Tournev I, Pedraza Linarès OL, Nielsen JE, Svenstrup
K, Zaki M, Bauer P, Schöls L, Schüle R, Lossos A, Bassi MT, Basso M, Bertini E,
Brusco A, Casali C, Casari G, Criscuolo C, Filla A, Orsi L, Santorelli FM,
Valente EM, Vavla M, Vazza G, Megarbane A, Benomar A, Kremer B, Van Roon-Mom W,
Roxburgh R, Erichsen AK, Tallaksen C, Alonso I, Coutinho P, Loureiro JL,
Sequeiros J, Salih M, Kostic VS, Rouco Axpe I, Elsayed L, Paucar MA, Roumani S,
Bing-Wen S, Reid E, Suran N, Warner T, Wood N.

Author information:
(1)Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP,
INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
(2)EPHE, PSL Research University, Neurogenetics Group, Paris, France.
(3)Genetic Department, University Hospital Pitié-Salpêtrière, AP-HP, Paris,
France.
(4)Expert center for Neurogenetic Diseases, Department of Neurology, CHU Gui de
Chauliac, MMDN, Univ Montpellier, INSERM, EPHE, Montpellier, France.
(5)Neurological Department University Hospital Strasbourg, Strasbourg, France.
(6)University Bordeaux, Laboratoire MRGM, INSERM U1211, Centre de Référence
Neurogénétique, Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
(7)University Hospital Essen, Department of Neurology, Essen, Germany.
(8)Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain
Research, University of Tübingen, Tübingen, Germany.
(9)Université de Franche-Comté, Centre de Génétique Humaine, Centre Hospitalier
Régional Universitaire, Besançon, France.
(10)Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology,
Laboratory of Neurogenetics, Institute Born-Bunge and Department of Biomedical
Sciences, University of Antwerp, Antwerp, Belgium.
(11)Sorbonne Université, Institut du Cerveau-Paris Brain Institute (ICM), AP-HP,
INSERM, CNRS, University Hospital Pitié-Salpêtrière, Paris, France.
.
(#)Contributed equally

Erratum for
Genet Med. 2020 Nov;22(11):1851-1862.

DOI: 10.1038/s41436-020-01064-y
PMID: 33353973

Know more about