A novel mutation in the OAR domain of the ARX gene

Por Tapie, Alejandra, Pi‐Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía
Publicado no Clin Case Rep (2017)

Whole Exome Sequencing in Dominant Cataract Identifies a New Causative Factor, CRYBA2, and a Variety of Novel Alleles in Known Genes

Por Reis, Linda M., Tyler, Rebecca C., Muheisen, Sanaa, Raggio, Victor, Salviati, Leonardo, Han, Dennis P., Costakos, Deborah, Yonath, Hagith, Hall, Sarah, Power, Patricia, Semina, Elena V.
Publicado em 2013

Variable frequency of LRRK2 variants in the Latin American research consortium on the genetics of Parkinson’s disease (LARGE-PD), a case of ancestry

Por Cornejo-Olivas, Mario, Torres, Luis, Velit-Salazar, Mario R., Inca-Martinez, Miguel, Mazzetti, Pilar, Cosentino, Carlos, Micheli, Federico, Perandones, Claudia, Dieguez, Elena, Raggio, Victor, Tumas, Vitor, Borges, Vanderci, Ferraz, Henrique B., Rieder, Carlos R. M., Shumacher-Schuh, Artur, Velez-Pardo, Carlos, Jimenez-Del-Rio, Marlene, Lopera, Francisco, Chang-Castello, Jorge, Andreé-Munoz, Brennie, Waldherr, Sarah, Yearout, Dora, Zabetian, Cyrus P., Mata, Ignacio F.
Publicado no NPJ Parkinsons Dis (2017)

Lrrk2 p.Q1111H substitution and Parkinson’s disease in Latin America

Por Mata, Ignacio F., Wilhoite, Greggory J., Yearout, Dora, Bacon, Justin A., Cornejo, Mario, Mazzetti, Pilar, Marca, Victoria, Ortega, Olimpio, Acosta, Oscar, Cosentino, Carlos, Torres, Luis, Medina, Angel C., Perez-Pastene, Carolina, Díaz-Grez, Fernando, Vilariño-Güell, Carles, Venegas, Pablo, Miranda, Marcelo, Trujillo-Godoy, Osvaldo, Layson, Luis, Avello, Rodrigo, Dieguez, Elena, Raggio, Victor, Micheli, Federico, Perandones, Claudia, Alvarez, Victoria, Segura-Aguilar, Juan, Farrer, Matthew J., Zabetian, Cyrus P., Ross, Owen A.
Publicado em 2011