Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

por Spangenberg, Lucía, Guecaimburú, Rosario, Tapié, Alejandra, Vivas, Susana, Rodríguez, Soledad, Graña, Martín, Naya, Hugo, Raggio, Víctor
Publicado 2021

Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report

por Simoes, Camila, Graña, Martín, Rodriguez, Soledad, Baltar Yanes, Federico, Tapié, Alejandra, Dell’Oca, Nicolás, Naya, Hugo, Raggio, Víctor, Spangenberg, Lucía
Publicado 2022

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 2017

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

por Raggio, Víctor, Dell’Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia
Publicado 2021

Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy

por Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía
Publicado 2023