NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

With more than 40 causative genes identified so far, autosomal dominant cerebellar ataxias exhibit a remarkable genetic heterogeneity. Yet, half the patients are lacking a molecular diagnosis. In a large family with nine sampled affected members, we performed exome sequencing combined with whole-gen...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2022-05, Vol.145 (4), p.1519-1534
Hauptverfasser:	Coutelier, Marie, Jacoupy, Maxime, Janer, Alexandre, Renaud, Flore, Auger, Nicolas, Saripella, Ganapathi-Varma, Ancien, François, Pucci, Fabrizio, Rooman, Marianne, Gilis, Dimitri, Larivière, Roxanne, Sgarioto, Nicolas, Valter, Rémi, Guillot-Noel, Léna, Le Ber, Isabelle, Sayah, Sabrina, Charles, Perrine, Nümann, Astrid, Pauly, Martje G, Helmchen, Christoph, Deininger, Natalie, Haack, Tobias B, Brais, Bernard, Brice, Alexis, Trégouët, David-Alexandre, El Hachimi, Khalid H, Shoubridge, Eric A, Durr, Alexandra, Stevanin, Giovanni
Format:	Artikel
Sprache:	eng
Schlagworte:	Life Sciences Santé publique et épidémiologie
Online-Zugang:	Volltext
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