Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype

por Napolitano, Filomena, Dell’Aquila, Milena, Terracciano, Chiara, Franzese, Giuseppina, Gentile, Maria Teresa, Piluso, Giulio, Santoro, Claudia, Colavito, Davide, Patanè, Anna, De Blasiis, Paolo, Sampaolo, Simone, Paladino, Simona, Melone, Mariarosa Anna Beatrice
Publicado 2022

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families

por Napolitano, Filomena, Bruno, Giorgia, Terracciano, Chiara, Franzese, Giuseppina, Palomba, Nicole Piera, Scotto di Carlo, Federica, Signoriello, Elisabetta, De Blasiis, Paolo, Navarro, Stefano, Gialluisi, Alessandro, Melone, Mariarosa Anna Beatrice, Sampaolo, Simone, Esposito, Teresa
Publicado 2021