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

Por 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.
Publicado em 2013

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

Por 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
Publicado no JAMA Neurol (2017)