Aberrant Splicing in GJB1 and the Relevance of 5′ UTR in CMTX1 Pathogenesis

por Boso, Federica, Taioli, Federica, Cabrini, Ilaria, Cavallaro, Tiziana, Fabrizi, Gian Maria
Publicado 2020

Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I

por Boso, Federica, Armirotti, Andrea, Taioli, Federica, Ferrarini, Moreno, Nobbio, Lucilla, Cavallaro, Tiziana, Fabrizi, Gian Maria
Publicado 2019

Rare among Rare: Phenotypes of Uncommon CMT Genotypes

por Gentile, Luca, Russo, Massimo, Taioli, Federica, Ferrarini, Moreno, Aguennouz, M’Hammed, Rodolico, Carmelo, Toscano, Antonio, Fabrizi, Gian Maria, Mazzeo, Anna
Publicado 2021