Fabio Corsolini - Dissemin

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All papers authored by Fabio Corsolini

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2019 F. Fioredda

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, A. Mariani, A. Beccaria

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, I. Ceccherini

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, R. Venè

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, F. Corsolini

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and 1 other authors

Thrombotic thrombocytopenic purpura and defective apoptosis due to CASP8/10 mutations: the role of mycophenolate mofetil

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Maurizio Miano

ORCID

, Enrico Cappelli

ORCID

, Agnese Pezzulla, Roberta Venè, Alice Grossi, Paola Terranova, Elena Palmisani, Rosario Maggiore, Daniela Guardo, Tiziana Lanza, Michaela Calvillo, Concetta Micalizzi, Filomena Pierri, Chiara Vernarecci, Andrea Beccaria and 6 other authors

FAS‐mediated apoptosis impairment in patients with ALPS/ALPS‐like phenotype carrying variants on CASP10 gene

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Roberta Bottega

ORCID

, Luisa M. R. Napolitano, Anna Carbone, Enrico Cappelli, Fabio Corsolini

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, Silvia Onesti, Anna Savoia, Paolo Gasparini, Flavio Faletra

ORCID

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

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2018 T. Da Ros, A. Ostric, F. Andreola, M. Filocamo, M. Pietrogrande, F. Corsolini

ORCID

, M. Stroppiano, S. Bruni, A. Serafino, S. Fiorito

Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I

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2017 Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini

ORCID

, Fabio Corsolini

ORCID

, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

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S. Lualdi, G. Del Zotto, O. Zegarra-Moran, N. Pedemonte, F. Corsolini

ORCID

, M. Bruschi, Tomati, G. Amico, G. Candiano, A. Dardis, D. N. Cooper, M. Filocamo

In vitro recapitulation of the site-specific editing (to wild-type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs

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2016 Giulia Amico, Serena Grossi, Raymon Vijzelaar, Federica Lanza, Raffaella Mazzotti, Fabio Corsolini

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, Mirjam Ketema, Mirella Filocamo

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease

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Silvia Ravera, Carlo Dufour, Simone Cesaro, Roberta Bottega, Michela Faleschini

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, Paola Cuccarolo, Fabio Corsolini

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, Cesare Usai, Marta Columbaro, Marco Cipolli, Anna Savoia, Paolo Degan, Enrico Cappelli

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

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J. Svahn, F. Bagnasco, E. Cappelli, D. Onofrillo, S. Caruso, F. Corsolini

ORCID

, D. De Rocco, A. Savoia, D. Longoni, M. Pillon, N. Marra, U. Ramenghi, P. Farruggia, A. Locasciulli, C. Addari and 10 other authors

Somatic, hematologic phenotype, long-term outcome, and effect of hematopoietic stem cell transplantation. An analysis of 97 Fanconi anemia patients from the Italian national database on behalf of the Marrow Failure Study Group of the AIEOP (Italian Association of Pediatric Hematology–Oncology)

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2015 J. Svahn, T. Lanza, K. Rathbun, G. Bagby, S. Ravera, F. Corsolini

ORCID

, A. Pistorio, D. Longoni, P. Farruggia, C. Dufour, E. Cappelli

P38 mitogen-activated protein kinase inhibition enhances invitro erythropoiesis of Fanconi anemia, complementation group A-deficient bonemarrow cells

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2014 Marina Stroppiano, Maria Grazia Calevo, Fabio Corsolini

ORCID

, Michela Cassanello, Elena Cassinerio, Federica Lanza, Giorgia Stroppiana, Maria Domenica Cappellini, Mirella Filocamo

Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher Disease Patients.

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Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini

ORCID

, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno and 13 other authors

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

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R. Biancheri, S. Grossi, S. Regis, A. Rossi, F. Corsolini

ORCID

, D. P. Rossi, P. Cavalli, M. Severino, M. Filocamo

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

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2013 Manola Comar, Daniela De Rocco, Enrico Cappelli, Nunzia Zanotta, Roberta Bottega, Johanna Svahn, Piero Farruggia, Aldo Misuraca, Fabio Corsolini

ORCID

, Carlo Dufour, Anna Savoia

Fanconi Anemia Patients Are More Susceptible to Infection with Tumor Virus SV40

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Stefano Regis, Fabio Corsolini

ORCID

, Serena Grossi, Barbara Tappino, David N. Cooper, Mirella Filocamo

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

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Elisabeth T. Korthof, Johanna Svahn, Regis Peffault de Latour, Paola Terranova, Helene Moins-Teisserenc

ORCID

, Gérard Socié, Jean Soulier, Marleen Kok, Robbert G. M. Bredius, Maarten van Tol, Els C. M. Jol-Van der Zijde, Angela Pistorio, Fabio Corsolini

ORCID

, Alessia Parodi, Florinda Battaglia and 3 other authors

Immunological profile of Fanconi anemia: A multicentric retrospective analysis of 61 patients

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2011 Serena Grossi, Stefano Regis, Roberta Biancheri, Matthew Mort, Susanna Lualdi, Enrico Bertini, Graziella Uziel, Odile Boespflug-Tanguy, Alessandro Simonati, Fabio Corsolini

ORCID

, Ercan Demir, Valentina Marchiani, Antonio Percesepe, Franco Stanzial, Andrea Rossi and 3 other authors

Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations.

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2010 Barbara Tappino, Roberta Biancheri, Matthew Mort, Stefano Regis, Fabio Corsolini

ORCID

, Andrea Rossi, Marina Stroppiano, Susanna Lualdi, Agata Fiumara, Bruno Bembi, Maja Di Rocco, David N. Cooper, Mirella Filocamo

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

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Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter W. Thompson, Fabio Corsolini

ORCID

, Maja Di Rocco, Bruno Bembi, Stefano Regis, David Neil Cooper, Mirella Filocamo

Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome

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2009 Barbara Tappino, Nadia A. Chuzhanova

ORCID

, Stefano Regis, Andrea Dardis, Fabio Corsolini

ORCID

, Marina Stroppiano, Emmanuel Tonoli, Tommaso Beccari, Camillo Rosano, Jan Mucha, Mariana Blanco, Marina Szlago, Maja Di Rocco, David Neil Cooper, Mirella Filocamo

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase α- and β-subunit (GNPTAB) gene mutations causing mucolipidosis types IIα/β and IIIα/β in 46 patients

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