A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation
Titel:
A familial amyotrophic lateral sclerosis pedigree discordant for a novel p.Glu46Asp heterozygous OPTN variant and the p.Ala5Val heterozygous SOD1 missense mutation
Auteur:
Canosa, Antonio Grassano, Maurizio Barberis, Marco Brunetti, Maura Manera, Umberto Vasta, Rosario Cammarosano, Stefania De Marco, Giovanni Calvo, Andrea Chiò, Adriano Moglia, Cristina