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TITLE: Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons  Full Text
AUTHORS: Neus Bayo Puxan; Ana Paula Terrasso; Sophie Creyssels; Daniel Simao; Christina Begon Pescia; Marina Lavigne; Sara Salinas; Florence Bernex; Assumpcio Bosch; Vasiliki Kalatzis; Thierry Levade; Ana Maria Cuervo; Philippe Lory; Antonella Consiglio; Catarina Brito; Eric J Kremer;
PUBLISHED: 2018, SOURCE: SCIENTIFIC REPORTS, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus WOS
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TITLE: Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene  Full Text
AUTHORS: Mariana Q Alves; Emmanuelle Le Trionnaire; Isaura Ribeiro; Stephane Carpentier; Klaus Harzer; Thierry Levade; Gil Ribeiro, MG ;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 109, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef