A PTG variant contributes to a milder phenotype in Lafora disease.

por Rosa Guerrero, Santiago Vernia, Raúl Sanz, Irene Abreu-Rodríguez, Carmen Almaraz, María García-Hoyos, Roberto Michelucci, Carlo Alberto Tassinari, Patrizia Riguzzi, Carlo Nobile, Pascual Sanz, José M Serratosa, Pilar Gómez-Garre
Publicado 2011

An empirical pipeline for personalized diagnosis of Lafora disease mutations

por M. Kathryn Brewer, Maria Machio-Castello, Rosa Viana, Jeremiah L. Wayne, Andrea Kuchtová, Zoe R. Simmons, Sarah Sternbach, Sheng Li, Maria Adelaida García-Gimeno, Jose M. Serratosa, Pascual Sanz, Craig W. Vander Kooi, Matthew S. Gentry
Publicado 2021