Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

by Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti
Published 2021-05-01

Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG

by Davide Villa, Claudia Cinnante, Gloria Valcamonica, Giulia Manenti, Silvia Lanfranconi, Annalisa Colombi, Isabella Ghione, Maria Cristina Saetti, Mario D’Amico, Sara Bonato, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi
Published 2020-08-01