Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleClinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.AuthorsCao, Michelangelo; Donà, Marta; Valentino, Lucia; Semplicini, Claudio; Maresca, Alessandra; Cassina, Matteo; Torraco, Alessandra; Galletta, Eva; Manfioli, Valeria; Sorarù, Gianni; Carelli, Valerio; Stramare, Roberto; Bertini, Enrico; Carozzo, Rosalba; Salviati, Leonardo; Pegoraro, ElenaPublicationNeurogenetics, 2016, Vol 17, Issue 1, p65ISSN1364-6745Publication typeArticleDOI10.1007/s10048-015-0465-x