Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia

par Lim, Sing-Hui, St.Germain, Elizabeth, Tran-Viet, Khanh-Nhat, Staffieri, Sandra, Marino, Meghan, Dollfus, Hélène, Nading, Erica B., Crowe, Sue, Gole, Glen, Perdomo-Trujillo, Yaumara, Haybittel, Michael, Elder, James, Pelletier, Valérie, Traboulsi, Elias, Mackey, David, Young, Terri L.
Publié 2013

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

par Charif, Majida, Nasca, Alessia, Thompson, Kyle, Gerber, Sylvie, Makowski, Christine, Mazaheri, Neda, Bris, Céline, Goudenège, David, Legati, Andrea, Maroofian, Reza, Shariati, Gholamreza, Lamantea, Eleonora, Hopton, Sila, Ardissone, Anna, Moroni, Isabella, Giannotta, Melania, Siegel, Corinna, Strom, Tim M., Prokisch, Holger, Vignal-Clermont, Catherine, Derrien, Sabine, Zanlonghi, Xavier, Kaplan, Josseline, Hamel, Christian P., Leruez, Stephanie, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, White, Frances E., Hardy, Steven A., Barbosa, Inês A., Simpson, Michael A., Vara, Roshni, Perdomo Trujillo, Yaumara, Galehdari, Hamind, Deshpande, Charu, Haack, Tobias B., Rozet, Jean-Michel, Taylor, Robert W., Ghezzi, Daniele, Amati-Bonneau, Patrizia, Lenaers, Guy
Publié dans JAMA Neurol (2017)