Using Exome Sequencing to Reveal Mutations in TREM2 Presenting as a Frontotemporal Dementia–like Syndrome Without Bone Involvement

par Guerreiro, Rita João, Lohmann, Ebba, Brás, José Miguel, Gibbs, Jesse Raphael, Rohrer, Jonathan D., Gurunlian, Nicole, Dursun, Burcu, Bilgic, Basar, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Singleton, Andrew, Hardy, John
Publié 2013

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease

par Guerreiro, Rita Joao, Lohmann, Ebba, Kinsella, Emma, Bras, Jose Miguel, Luu, Nga, Gurulian, Nicole, Dursun, Burcu, Bilgi, Basar, Santana, Isabel, Hanagasi, Hasmet, Gurvit, Hakan, Gibbs, Raphael, Oliveira, Catarina, Emre, Murat, Singleton, Andrew
Publié 2011

GENETIC SCREENING OF ALZHEIMER’S DISEASE GENES IN IBERIAN AND AFRICAN SAMPLES YIELDS NOVEL MUTATIONS IN PRESENILINES AND APP

par Guerreiro, Rita Joao, Baquero, Miquel, Blesa, Rafael, Boada, Mercè, Brás, Jose Miguel, Bullido, Maria. J., Calado, Ana, Crook, Richard, Ferreira, Carla, Frank, Ana, Gómez-Isla, Teresa, Hernández, Isabel, Lleó, Alberto, Machado, Alvaro, Martínez-Lage, Pablo, Masdeu, José, Molina-Porcel, Laura, Molinuevo, José L., Pastor, Pau, Pérez-Tur, Jordi, Relvas, Rute, Oliveira, Catarina Resende, Ribeiro, Maria Helena, Rogaeva, Ekaterina, Sa, Alfredo, Samaranch, Lluís, Sánchez-Valle, Raquel, Santana, Isabel, Tàrraga, Lluís, Valdivieso, Fernando, Singleton, Andrew, Hardy, John, Clarimón, Jordi
Publié 2008