Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes

Coutelier, Marie;Hammer, Monia B.;STEVANIN, GIOVANNI;Monin, Marie-Lorraine;Davoine, Claire-Sophie;Mochel, Fanny;Labauge, Pierre;Ewenczyk, Claire;Ding, Jinhui;Gibbs, J. Raphael;Hannequin, Didier;Melki, Judith;Toutain, Annick;Laugel, Vincent;Forlani, Sylvie;Charles, Perrine;Broussolle, Emmanuel;Thobois, Stéphane;Afenjar, Alexandra;Anheim, Mathieu;Calvas, Patrick;Castelnovo, Giovanni;De Broucker, Thomas;Vidailhet, Marie;Moulignier, Antoine;Ghnassia, Robert T.;Tallaksen, Chantal;Mignot, Cyril;Goizet, Cyril;Le Ber, Isabelle;Ollagnon-Roman, Elisabeth;Pouget, Jean;Brice, Alexis;Singleton, Andrew;Durr, Alexandra

;Belarabi, Soraya;Hamri, Abdelmadjid;Tazir, Meriem;Boesch, Sylvia;Pandolfo, Massimo;Ullmann, Urielle;Jardim, Laura;Guergueltcheva, Velina;Tournev, Ivalo;Soong, Bing-Wen;Linarès, Olga Lucia Pedraza;Nielsen, Jørgen E.;Svenstrup, Kirsten;Zaki, Maha;Azulay, Jean-Philippe;Banneau, Guillaume;Boesfplug-Tanguy, Odile;Burgo, Andrea;Cazeneuve, Cécile;Darios, Frédéric;Depienne, Christel;Duyckaerts, Charles;Fontaine, Bertrand;Hazan, Jamilé;Koenig, Michel;Marelli, Cecilia;N'guyen, Karine;Rodriguez, Diana;Sittler, Annie;Verny, Christophe;Bauer, Peter;Schöls, Lüdger;Schüle, Rebecca;Koutsis, Georgios;Lossos, Alexander;Antenora, Antonella;Bassi, Maria Teresa;Basso, Manuela;Bertini, Enrico;Brusco, Alfredo;Casali, Carlo;Casari, Giorgio;Criscuolo, Chiara;Filla, Alessandro;Lieto, Maria;Orsi, Laura;Santorelli, Filippo M.;Valente, Enza Maria;VAVLA, MARINELA;Vazza, Giovanni;Megarbane, André;Benomar, Ali;Roxburgh, Richard;Erichsen, Anne Kjersti;Alonso, Isabel;Coutinho, Paula;Loureiro, José Léal;Sequeiros, Jorge;Salih, Mustapha;Kostic, Vladimir S.;Axpe, Idoia Rouco;Roumani, Samir;Kremer, Berry;Van Roon-Mom, Willeke;Boukhris, Amir;Mhiri, Chokri;Karabay, Arzu;Nethisinghe, Suran;Okane, Cahir;Oliva, Megan;Reid, Evan;Warner, Thomas;Wood, Nicholas

2018