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Clinical variability of ATP11C-related hemolytic anemia: expanding the phenotypic and diagnostic spectrum D'Onofrio, Vanessa; Esposito, Federica Maria; Marra, Roberta; Rosato, Barbara Eleni; Nostroso, Antonella; Perrotta, Alessia; Matsell, Eli; Manno, Mariangela; Iscaro, Anthony; Dionisi, Manuela; Martone, Stefania; Arcioni, Francesco; Barbato, Antonio; Chiariotti, Lorenzo; Della Monica, Rosa; van Oirschot-Hermans, Brigitte A.; van Wijk, Richard; Molday, Robert S.; Iolascon, Achille; Russo, Roberta; Andolfo, Immacolata Share Save
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A Complex Neurodevelopmental Phenotype Resembling a Chromatinopathy With Concurrent 7p Duplication and 10p Deletion Involving ZMYND11: A Case Report and Literature Review Minale, Elia Marco Paolo; Martone, Stefania; Criscuolo, Chiara; Marra, Roberta; Lasorsa, Vito Alessandro; Ruggiero, Raffaella; Suero, Teresa; Capasso, Mario; Andolfo, Immacolata; Iolascon, Achille; Russo, Roberta; Pinelli, Michele Share Save
The Non-Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting HSD17B12 Expression and Lipid Metabolism Maiorino, Teresa; Avitabile, Marianna; Aievola, Vincenzo; Montella, Annalaura; Lasorsa, Vito A.; Bonfiglio, Ferdinando; Cantalupo, Mariagrazia; Cantalupo, Sueva; Estinto, Gilda; Tirelli, Matilde; Morini, Martina; Ardito, Martina; Eva, Alessandra; Cerbone, Vincenza; Mauriello, Lucia; Caterino, Marianna; Ruoppolo, Margherita; Maris, John M.; Diskin, Sharon J.; Iolascon, Achille; Capasso, Mario Share Save
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Premature skeletal muscle aging in VPS13A deficiency relates to impaired autophagy Riccardi, V; Viscomi, CF; Sandri, M; D'Alessandro, A; Dzieciatkowska, M; Stephenson, D; Federti, E; Hermann, A; Salviati, L; Siciliano, A; Andolfo, I; Alper, SL; Ceolan, J; Iolascon, A; Vattemi, G; Danek, A; Walker, RH; Mensch, A; Otto, M; Deschauer, M; Armbrust, M; Beninca, C; Salari, V; Fabene, P; Peikert, K; De Franceschi, L Share Save
COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet Velasco Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodriguez-Sanchez, Maria A.; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardon-Cancho, Eduardo J.; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J.; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G.; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthoj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J.; Stiakaki, Eftichia; van de Velde, Ann L.; Diamantidis, Michael D.; Kerkhoffs, Jean-Louis H.; Oliveira, Marisa I.; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argueello Marina, Maria; Lorite Reggiori, Mikael; Rijneveld, Anita W.; Rodriguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Beatrice; Roy, Noemi B. A.; Manu-Pereira, Maria del Mar Share Save
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RAS signaling pathway is essential in regulating PIEZO1-mediated hepatic iron overload in dehydrated hereditary stomatocytosis Rosato, Barbara Eleni; D'Onofrio, Vanessa; Marra, Roberta; Nostroso, Antonella; Esposito, Federica Maria; Iscaro, Anthony; Lasorsa, Vito Alessandro; Capasso, Mario; Iolascon, Achille; Russo, Roberta; Andolfo, Immacolata Share Save
Novel cellular models of SLC25A38-related congenital sideroblastic anemia shed light on mitochondrial physiology and pave the way for therapeutic strategies Palmieri, Luigi; Santoro, Antonella; De Santis, Silvia; Vozza, Angelo; Andolfo, Immacolata; Russo, Roberta; Fiermonte, Giuseppe; Iolascon, Achille; Paradies, Eleonora; Marobbio, Carlo Marya Thomas Share Save
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Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Sanchez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou-Fakhredin, Rayan; Muckenthaler, Martina U.; Unal, Sule; Porto, Graca; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G.; Taher, Ali Share Save
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Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication de Antonellis, Pasqualino; Ferrucci, Veronica; Miceli, Marco; Bibbo, Francesca; Asadzadeh, Fatemeh; Gorini, Francesca; Mattivi, Alessia; Boccia, Angelo; Russo, Roberta; Andolfo, Immacolata; Lasorsa, Vito Alessandro; Cantalupo, Sueva; Fusco, Giovanna; Viscardi, Maurizio; Brandi, Sergio; Cerino, Pellegrino; Monaco, Vittoria; Choi, Dong-Rac; Cheong, Jae-Ho; Iolascon, Achille; Amente, Stefano; Monti, Maria; Fava, Luca L.; Capasso, Mario; Kim, Hong-Yeoul; Zollo, Massimo Share Save
Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients Marra, Roberta; Nostroso, Antonella; Rosato, Barbara Eleni; Esposito, Federica Maria; D'Onofrio, Vanessa; Iscaro, Anthony; Gambale, Antonella; Bruschi, Barbara; Coccia, Paola; Poloni, Antonella; Unal, Sule; Romano, Alberto; Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta Share Save
Noncoding regulatory mutations as driving event for the oncogenic core regulatory circuitries of neuroblastoma Capasso, Mario; Aievola, Vincenzo; Lasorsa, Vito Alessandro; Montella, Annalaura; Bonfiglio, Ferdinando; Avitabile, Marianna; Maiorino, Teresa; Tirelli, Matilde; D'Alterio, Giuseppe; Fischer, Matthias; Westermann, Frank; Iolascon, Achille Share Save
From the identification of actionable molecular targets to the generation of faithful neuroblastoma patient-derived preclinical models Capasso, Mario; Brignole, Chiara; Lasorsa, Vito A.; Bensa, Veronica; Cantalupo, Sueva; Sebastiani, Enrico; Quattrone, Alessandro; Ciampi, Eleonora; Avitabile, Marianna; Sementa, Angela R.; Mazzocco, Katia; Cafferata, Barbara; Gaggero, Gabriele; Vellone, Valerio G.; Cilli, Michele; Calarco, Enzo; Giusto, Elena; Perri, Patrizia; Aveic, Sanja; Fruci, Doriana; Tondo, Annalisa; Luksch, Roberto; Mura, Rossella; Rabusin, Marco; De Leonardis, Francesco; Cellini, Monica; Coccia, Paola; Iolascon, Achille; Corrias, Maria V.; Conte, Massimo; Garaventa, Alberto; Amoroso, Loredana; Ponzoni, Mirco; Pastorino, Fabio Share Save
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