Hasil Pencarian - Fabio Corsolini

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  1. 1
    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation.

    Restoration of the normal splicing pattern of the PLP1 gene by means of an antisense oligonucleotide directed against an exonic mutation. oleh Stefano Regis, Fabio Corsolini, Serena Grossi, Barbara Tappino, David N Cooper, Mirella Filocamo

    Diterbitkan 2013-01-01
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  2. 2
    A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A

    A Multidrug Approach to Modulate the Mitochondrial Metabolism Impairment and Relative Oxidative Stress in Fanconi Anemia Complementation Group A oleh Enrico Cappelli, Nadia Bertola, Silvia Bruno, Paolo Degan, Stefano Regis, Fabio Corsolini, Barbara Banelli, Carlo Dufour, Silvia Ravera

    Diterbitkan 2021-12-01
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  3. 3
    Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia

    Effects of Deacetylase Inhibition on the Activation of the Antioxidant Response and Aerobic Metabolism in Cellular Models of Fanconi Anemia oleh Nadia Bertola, Stefano Regis, Silvia Bruno, Andrea Nicola Mazzarello, Martina Serra, Michela Lupia, Federica Sabatini, Fabio Corsolini, Silvia Ravera, Enrico Cappelli

    Diterbitkan 2023-05-01
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  4. 4
    Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for <i>FANCA-A</i> Gene: The Central Role of DRP1

    Altered Mitochondrial Dynamic in Lymphoblasts and Fibroblasts Mutated for <i>FANCA-A</i> Gene: The Central Role of DRP1 oleh Nadia Bertola, Silvia Bruno, Cristina Capanni, Marta Columbaro, Andrea Nicola Mazzarello, Fabio Corsolini, Stefano Regis, Paolo Degan, Enrico Cappelli, Silvia Ravera

    Diterbitkan 2023-03-01
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  5. 5
    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases

    Cell Line and DNA Biobank From Patients Affected by Genetic Diseases oleh Mirella Filocamo, Raffaella Mazzotti, Fabio Corsolini, Marina Stroppiano, Giorgia Stroppiana, Serena Grossi, Susanna Lualdi, Barbara Tappino, Federica Lanza, Sara Galotto, Roberta Biancheri

    Diterbitkan 2014-07-01
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  6. 6
    Fanconi anemia patients are more susceptible to infection with tumor virus SV40.

    Fanconi anemia patients are more susceptible to infection with tumor virus SV40. oleh Manola Comar, Manola Comar, Daniela De Rocco, Enrico Cappelli, Nunzia Zanotta, Roberta Bottega, Johanna Svahn, Piero Farruggia, Aldo Misuraca, Fabio Corsolini, Carlo Dufour, Anna Savoia

    Diterbitkan 2013-01-01
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  7. 7
    Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

    Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia oleh Roberta Bottega, Elena Nicchia, Enrico Cappelli, Silvia Ravera, Daniela De Rocco, Michela Faleschini, Fabio Corsolini, Filomena Pierri, Michaela Calvillo, Giovanna Russo, Gabriella Casazza, Ugo Ramenghi, Piero Farruggia, Carlo Dufour, Anna Savoia

    Diterbitkan 2018-03-01
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  8. 8
    Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis

    Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis oleh Maurizio Miano, Daniela Guardo, Alice Grossi, Elena Palmisani, Francesca Fioredda, Paola Terranova, Enrico Cappelli, Michela Lupia, Monica Traverso, Gianluca Dell’Orso, Fabio Corsolini, Andrea Beccaria, Marina Lanciotti, Isabella Ceccherini, Carlo Dufour

    Diterbitkan 2022-05-01
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  9. 9
    A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation

    A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation oleh Ilaria Persico, Ilaria Persico, Ilaria Persico, Giorgia Fontana, Michela Faleschini, Melania Eva Zanchetta, Daniele Ammeti, Enrico Cappelli, Fabio Corsolini, Clara Mosa, Angela Guarina, Massimo Bogliolo, Massimo Bogliolo, Jordi Surrallés, Jordi Surrallés, Jordi Surrallés, Carlo Dufour, Piero Farruggia, Anna Savoia, Roberta Bottega

    Diterbitkan 2023-07-01
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  10. 10
    P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE

    P756: IMPAIRED MITOCHONDRIAL FUNCTION AND MARROW FAILURE IN PATIENTS CARRYING A MUTATION ON SRSF4 GENE oleh Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell’orso, Stefano Regis, Francesca Fioredda, Michela Lupia, Marina Lanciotti, Elena Palmisani, Maria Carla Giarratana, Luca Arcuri, Fabio Corsolini, Marta Rusmini, Paolo Uva, Diego Vozzi, Isabella Ceccherini, Silvia Ravera, Enrico Cappelli, Carlo Dufour

    Diterbitkan 2023-08-01
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  11. 11
    Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> Gene

    Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> Gene oleh Maurizio Miano, Nadia Bertola, Alice Grossi, Gianluca Dell’Orso, Stefano Regis, Marta Rusmini, Paolo Uva, Diego Vozzi, Francesca Fioredda, Elena Palmisani, Michela Lupia, Marina Lanciotti, Federica Grilli, Fabio Corsolini, Luca Arcuri, Maria Carla Giarratana, Isabella Ceccherini, Carlo Dufour, Enrico Cappelli, Silvia Ravera

    Diterbitkan 2024-02-01
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  12. 12
    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

    GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme oleh Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

    Diterbitkan 2021-11-01
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  13. 13
    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology oleh Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

    Diterbitkan 2014-06-01
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  14. 14
    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

    Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology oleh Daniela De Rocco, Roberta Bottega, Enrico Cappelli, Simona Cavani, Maria Criscuolo, Elena Nicchia, Fabio Corsolini, Chiara Greco, Adriana Borriello, Johanna Svahn, Marta Pillon, Cristina Mecucci, Gabriella Casazza, Federico Verzegnassi, Chiara Cugno, Anna Locasciulli, Piero Farruggia, Daniela Longoni, Ugo Ramenghi, Walter Barberi, Fabio Tucci, Silverio Perrotta, Paola Grammatico, Helmut Hanenberg, Fulvio Della Ragione, Carlo Dufour, Anna Savoia

    Diterbitkan 2014-09-01
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