A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

by Monica De Luise, Vito Guarnieri, Claudio Ceccarelli, Leonardo D’Agruma, Anna Maria Porcelli, Giuseppe Gasparre
Published 2019-01-01

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

by Lucia Micale, Lucia Anna Muscarella, Marco Marzulli, Bartolomeo Augello, Patrizia Tritto, Leonardo D'Agruma, Leopoldo Zelante, Gioacchino Palumbo, Giuseppe Merla
Published 2009-01-01

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

by Lucia Anna Muscarella, Vito Guarnieri, Michelina Coco, Serena Belli, Paola Parrella, Giuseppe Pulcrano, Domenico Catapano, Vincenzo A. D'Angelo, Leopoldo Zelante, Leonardo D'Agruma
Published 2010-01-01

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

by Eris Bidollari, Giovannina Rotundo, Filomena Altieri, Mariangela Amicucci, Daniele Wiquel, Daniela Ferrari, Marina Goldoni, Laura Bernardini, Federica Consoli, Alessandro De Luca, Sergio Fanelli, Giuseppe Lamorte, Leonardo D'Agruma, Angelo Luigi Vescovi, Ferdinando Squitieri, Jessica Rosati
Published 2019-10-01

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

by Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E C Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N Hendy, Leonardo D'Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri
Published 2013-01-01

Propranolol for familial cerebral cavernous malformation (Treat_CCM): study protocol for a randomized controlled pilot trial

by Silvia Lanfranconi, Elisa Scola, Giulio Andrea Bertani, Barbara Zarino, Roberto Pallini, Giorgio d’Alessandris, Emanuela Mazzon, Silvia Marino, Maria Rita Carriero, Emma Scelzo, Giuseppe Faragò, Marco Castori, Carmela Fusco, Antonio Petracca, Leonardo d’Agruma, Laura Tassi, Piergiorgio d’Orio, Maria Grazia Lampugnani, Enrico Bjorn Nicolis, Antonella Vasamì, Deborah Novelli, Valter Torri, Jennifer Marie Theresia Anna Meessen, Rustam Al-Shahi Salman, Elisabetta Dejana, Roberto Latini, the Treat-CCM Investigators
Published 2020-05-01