Items where Author is "Guevara-Ferrer, Marta"
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Guevara-Ferrer, Marta (2024) Cellular and molecular characterisation of MFSD8 mutations associated with the variant late-infantile NCL CLN7. Doctoral thesis (PhD), Manchester Metropolitan University.
Lopez-Fabuel, Irene, Garcia-Macia, Marina, Buondelmonte, Costantina, Burmistrova, Olga, Bonora, Nicolo, Alonso-Batan, Paula, Morant-Ferrando, Brenda, Vicente-Gutierrez, Carlos, Jimenez-Blasco, Daniel, Quintana-Cabrera, Ruben, Fernandez, Emilio, Llop, Jordi, Ramos-Cabrer, Pedro, Sharaireh, Aseel, Guevara-Ferrer, Marta, Fitzpatrick, Lorna, Thompton, Christopher D, McKay, Tristan R, Storch, Stephan, Medina, Diego L, Mole, Sara E, Fedichev, Peter O, Almeida, Angeles and Bolaños, Juan P
(2022)
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Nature Communications, 13 (1).
ISSN 2041-1723
Soldati, Chiara, Lopez-Fabuel, Irene, Wanderlingh, Luca G, Garcia-Macia, Marina, Monfregola, Jlenia, Esposito, Alessandra, Napolitano, Gennaro, Guevara-Ferrer, Marta, Scotto Rosato, Anna, Krogsaeter, Einar K, Paquet, Dominik, Grimm, Christian M, Montefusco, Sandro, Braulke, Thomas, Storch, Stephan, Mole, Sara E, De Matteis, Maria A, Ballabio, Andrea, Sampaio, Julio L, McKay, Tristan, Johannes, Ludger, Bolaños, Juan P and Medina, Diego L
(2021)
Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype.
EMBO Molecular Medicine, 13 (10).
ISSN 1757-4676