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pro vyhledávání: '"Perrotti A"'
Autor:
Elvira Immacolata Parrotta, Luana Scaramuzzino, Nicola Perrotti, Paola Malatesta, Stefania Scalise, Valeria Lucchino, Michela Lo Conte, Umberto Aguglia, Katia Grillone, Claudia Esposito, Giovanni Cuda, Edoardo Ferlazzo
Publikováno v:
Stem Cell Research, Vol 53, Iss, Pp 102329-(2021)
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy caused by mutations in the gene encoding Cystatin B (CSTB), an inhibitor of lysosomal proteases. The most common mutation described in ULD patients is an unstabl
Autor:
Nicola Perrotti, Elvira Immacolata Parrotta, Luana Scaramuzzino, Katia Grillone, Stefania Scalise, Giovanni Cuda, Valeria Lucchino, Claudia Esposito, Paola Malatesta
Publikováno v:
Stem Cell Research, Vol 49, Iss, Pp 102083-(2020)
Here, we described the generation of human induced pluripotent stem cell lines (hiPSCs) from fibroblasts isolated by punch biopsies of two siblings carrying inherited mutation (c.434 T > C) in the SCN1A gene, encoding for the neuronal voltage gated s