Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3
Maria Turco, Elisa, Maria Giada Giovenale, Angela, Rotundo, Giovannina, Mazzoni, Martina, Zanfardino, Paola, Frezza, Katia, Torrente, Isabella, Mary Carletti, Rose, Damiani, Devid, Santorelli, Filippo M., Luigi Vescovi, Angelo, Petruzzella, Vittoria, Rosati, Jessica
Published in Stem cell research (01.12.2022)
Published in Stem cell research (01.12.2022)
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Journal Article
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region
Giovenale, Angela Maria Giada, Turco, Elisa Maria, Mazzoni, Martina, Ferrone, Ilaria, Torres, Barbara, Bernardini, Laura, Vulcano, Edvige, Ferrari, Daniela, Onesimo, Roberta, D’Arrigo, Stefano, Zampino, Giuseppe, Pennuto, Maria, De Luca, Alessandro, Vescovi, Angelo Luigi, Rosati, Jessica
Published in Stem cell research (01.12.2024)
Published in Stem cell research (01.12.2024)
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Journal Article
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D’Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D’Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, Rosati, Jessica
Published in Cell death & disease (21.11.2022)
Published in Cell death & disease (21.11.2022)
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Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview
Giovenale, Angela Maria Giada, Ruotolo, Giorgia, Soriano, Amata Amy, Turco, Elisa Maria, Rotundo, Giovannina, Casamassa, Alessia, D'Anzi, Angela, Vescovi, Angelo Luigi, Rosati, Jessica
Published in Frontiers in cell and developmental biology (06.01.2023)
Published in Frontiers in cell and developmental biology (06.01.2023)
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Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview
Giovenale, Angela Maria Giada, Ruotolo, Giorgia, Soriano, Amata Amy, Turco, Elisa Maria, Rotundo, Giovannina, Casamassa, Alessia, D'Anzi, Angela, Vescovi, Angelo Luigi, Rosati, Jessica
Published in Frontiers in cell and developmental biology (01.02.2023)
Published in Frontiers in cell and developmental biology (01.02.2023)
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