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Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; ... (2024). Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nature communications, 15(7239) Nature Publishing Group 10.1038/s41467-024-51310-z
Girard, Martine; Larivière, Roxanne; Parfitt, David A; Deane, Emily C; Gaudet, Rebecca; Nossova, Nadya; Blondeau, Francois; Prenosil, George; Vermeulen, Esmeralda G M; Duchen, Michael R; Richter, Andrea; Shoubridge, Eric A; Gehring, Kalle; McKinney, R Anne; Brais, Bernard; Chapple, J Paul; McPherson, Peter S (2012). Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proceedings of the National Academy of Sciences of the United States of America - PNAS, 109(5), pp. 1661-6. Washington, D.C.: National Academy of Sciences NAS 10.1073/pnas.1113166109