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

by Filomena Napolitano, Milena Dell’Aquila, Chiara Terracciano, Giuseppina Franzese, Maria Teresa Gentile, Giulio Piluso, Claudia Santoro, Davide Colavito, Anna Patanè, Paolo De Blasiis, Simone Sampaolo, Simona Paladino, Mariarosa Anna Beatrice Melone
Published 2022-06-01

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

by Filomena Napolitano, Giorgia Bruno, Chiara Terracciano, Giuseppina Franzese, Nicole Piera Palomba, Federica Scotto di Carlo, Elisabetta Signoriello, Paolo De Blasiis, Stefano Navarro, Alessandro Gialluisi, Mariarosa Anna Beatrice Melone, Simone Sampaolo, Teresa Esposito
Published 2021-03-01