Lysosomal storage disorders: Molecular basis and laboratory testing

by Filocamo Mirella, Morrone Amelia
Published 2011-03-01

Lysosomal storage disorders: Molecular basis and laboratory testing

by Filocamo, Mirella, Morrone, Amelia
Published 2011

AIMP1/p43 Mutation and PMLD

by Biancheri, Roberta, Rossi, Andrea, Zara, Federico, Filocamo, Mirella
Published 2011

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know

by Filocamo, Mirella, Tomanin, Rosella, Bertola, Francesca, Morrone, Amelia
Published in Ital J Pediatr (2018)

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

by Bendikov-Bar, Inna, Maor, Gali, Filocamo, Mirella, Horowitz, Mia
Published 2013

Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking

by Zampieri, Stefania, Bembi, Bruno, Rosso, Natalia, Filocamo, Mirella, Dardis, Andrea
Published 2011

Restoration of the Normal Splicing Pattern of the PLP1 Gene by Means of an Antisense Oligonucleotide Directed against an Exonic Mutation

by Regis, Stefano, Corsolini, Fabio, Grossi, Serena, Tappino, Barbara, Cooper, David N., Filocamo, Mirella
Published 2013

Unfolded protein response in Gaucher disease: from human to Drosophila

by Maor, Gali, Rencus-Lazar, Sigal, Filocamo, Mirella, Steller, Hermann, Segal, Daniel, Horowitz, Mia
Published 2013

Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism

by Zanetti, Alessandra, Ferraresi, Elena, Picci, Luigi, Filocamo, Mirella, Parini, Rossella, Rosano, Camillo, Tomanin, Rosella, Scarpa, Maurizio
Published 2009

Expanded spectrum of Pelizaeus–Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form

by Biancheri, Roberta, Rosano, Camillo, Denegri, Laura, Lamantea, Eleonora, Pinto, Francesca, Lanza, Federica, Severino, Mariasavina, Filocamo, Mirella
Published 2013

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

by Fuccio, Antonella, Iorio, Mariangela, Amato, Felice, Elce, Ausilia, Ingino, Rosaria, Filocamo, Mirella, Castaldo, Giuseppe, Salvatore, Francesco, Tomaiuolo, Rossella
Published 2011

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

by Piccolo, Pasquale, Mithbaokar, Pratibha, Sabatino, Valeria, Tolmie, John, Melis, Daniela, Schiaffino, Maria Cristina, Filocamo, Mirella, Andria, Generoso, Brunetti-Pierri, Nicola
Published 2014

Infantile Sialic Acid Storage Disease: Serial Ultrasound and Magnetic Resonance Imaging Features

by Parazzini, Cecilia, Arena, Saverio, Marchetti, Lucrezia, Menni, Francesca, Filocamo, Mirella, Verheijen, Frans W., Mancini, Grazia M.S., Triulzi, Fabio, Parini, Rossella
Published in AJNR Am J Neuroradiol (2003)

Functional analysis of 11 novel GBA alleles

by Malini, Erika, Grossi, Serena, Deganuto, Marta, Rosano, Camillo, Parini, Rossella, Dominisini, Silvia, Cariati, Roberta, Zampieri, Stefania, Bembi, Bruno, Filocamo, Mirella, Dardis, Andrea
Published 2014

Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases

by Filocamo, Mirella, Baldo, Chiara, Goldwurm, Stefano, Renieri, Alessandra, Angelini, Corrado, Moggio, Maurizio, Mora, Marina, Merla, Giuseppe, Politano, Luisa, Garavaglia, Barbara, Casareto, Lorena, Bricarelli, Francesca Dagna
Published 2013

Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

by Frati, Giacomo, Luciani, Marco, Meneghini, Vasco, De Cicco, Silvia, Ståhlman, Marcus, Blomqvist, Maria, Grossi, Serena, Filocamo, Mirella, Morena, Francesco, Menegon, Andrea, Martino, Sabata, Gritti, Angela
Published in Cell Death Dis (2018)

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study

by Filosto, Massimiliano, Aureli, Massimo, Castellotti, Barbara, Rinaldi, Fabrizio, Schiumarini, Domitilla, Valsecchi, Manuela, Lualdi, Susanna, Mazzotti, Raffaella, Pensato, Viviana, Rota, Silvia, Gellera, Cinzia, Filocamo, Mirella, Padovani, Alessandro
Published in Eur J Hum Genet (2016)

Identification and Characterization of 15 Novel GALC Gene Mutations Causing Krabbe Disease

by Tappino, Barbara, Biancheri, Roberta, Mort, Matthew, Regis, Stefano, Corsolini, Fabio, Rossi, Andrea, Stroppiano, Marina, Lualdi, Susanna, Fiumara, Agata, Bembi, Bruno, Di Rocco, Maja, Cooper, David N, Filocamo, Mirella
Published 2010

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

by Ługowska, Agnieszka, Hetmańczyk-Sawicka, Katarzyna, Iwanicka-Nowicka, Roksana, Fogtman, Anna, Cieśla, Jarosław, Purzycka-Olewiecka, Joanna Karolina, Sitarska, Dominika, Płoski, Rafał, Filocamo, Mirella, Lualdi, Susanna, Bednarska-Makaruk, Małgorzata, Koblowska, Marta
Published in Sci Rep (2019)

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

by Motta, Irene, Consonni, Dario, Stroppiano, Marina, Benedetto, Christian, Cassinerio, Elena, Tappino, Barbara, Ranalli, Paola, Borin, Lorenza, Facchini, Luca, Patriarca, Andrea, Barcellini, Wilma, Lanza, Federica, Filocamo, Mirella, Cappellini, Maria Domenica
Published in Sci Rep (2021)