Search Results - Trevisson, Eva

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  1. 1
    Genetics of Coenzyme Q(10) Deficiency

    Genetics of Coenzyme Q(10) Deficiency by Doimo, Mara, Desbats, Maria A., Cerqua, Cristina, Cassina, Matteo, Trevisson, Eva, Salviati, Leonardo

    Published 2014
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  2. 2
    The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

    The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation by Vecellio Reane, Denis, Cerqua, Cristina, Sacconi, Sabrina, Salviati, Leonardo, Trevisson, Eva, Raffaello, Anna

    Published 2022
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  3. 3
    A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome

    A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome by Cassina, Matteo, Cerqua, Cristina, Rossi, Silvia, Salviati, Leonardo, Martini, Alessandro, Clementi, Maurizio, Trevisson, Eva

    Published 2017
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  4. 4
    A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q(10) Deficiency

    A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q(10) Deficiency by Quinzii, Catarina, Naini, Ali, Salviati, Leonardo, Trevisson, Eva, Navas, Plácido, DiMauro, Salvatore, Hirano, Michio

    Published 2006
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  5. 5
    Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells

    Vitamin K2 cannot substitute Coenzyme Q(10) as electron carrier in the mitochondrial respiratory chain of mammalian cells by Cerqua, Cristina, Casarin, Alberto, Pierrel, Fabien, Vazquez Fonseca, Luis, Viola, Giampiero, Salviati, Leonardo, Trevisson, Eva

    Published 2019
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  6. 6
    The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis

    The Conserved Mitochondrial Twin Cx(9)C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis by Horn, Darryl, Zhou, Wen, Trevisson, Eva, Al-Ali, Hassan, Harris, Thomas K., Salviati, Leonardo, Barrientos, Antoni

    Published 2010
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  7. 7
    DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

    DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature by Sorrentino, Ugo, Piccolo, Chiara, Rigon, Chiara, Brasson, Valeria, Trevisson, Eva, Boaretto, Francesca, Martini, Alessandro, Cassina, Matteo

    Published 2021
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  8. 8
    Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

    Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans by Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M., Trevisson, Eva, Salviati, Leonardo

    Published 2015
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  9. 9
    Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

    Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients by Sorrentino, Ugo, Bellonzi, Silvia, Mozzato, Chiara, Brasson, Valeria, Toldo, Irene, Parrozzani, Raffaele, Clementi, Maurizio, Cassina, Matteo, Trevisson, Eva

    Published 2021
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  10. 10
    Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q(10) deficiency()

    Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q(10) deficiency() by Doimo, Mara, Trevisson, Eva, Airik, Rannar, Bergdoll, Marc, Santos-Ocaña, Carlos, Hildebrandt, Friedhelm, Navas, Placido, Pierrel, Fabien, Salviati, Leonardo

    Published 2014
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  11. 11
    Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

    Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations by Trevisson, Eva, Burlina, Alberto, Doimo, Mara, Pertegato, Vanessa, Casarin, Alberto, Cesaro, Luca, Navas, Placido, Basso, Giuseppe, Sartori, Geppo, Salviati, Leonardo

    Published 2009
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  12. 12
    The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas

    The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas by Trevisson, Eva, Morbidoni, Valeria, Forzan, Monica, Daolio, Cecilia, Fumini, Valentina, Parrozzani, Raffaele, Cassina, Matteo, Midena, Edoardo, Salviati, Leonardo, Clementi, Maurizio

    Published 2019
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  13. 13
    Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations

    Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations by Cassina, Matteo, Frizziero, Luisa, Opocher, Enrico, Parrozzani, Raffaele, Sorrentino, Ugo, Viscardi, Elisabetta, Miglionico, Giacomo, Midena, Edoardo, Clementi, Maurizio, Trevisson, Eva

    Published 2019
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  14. 14
    Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study

    Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study by Cosmo, Eleonora, Frizziero, Luisa, Miglionico, Giacomo, De Biasi, Chiara Sofia, Bruno, Marisa, Trevisson, Eva, Gabbiato, Ilaria, Midena, Giulia, Parrozzani, Raffaele

    Published 2022
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  15. 15
    Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q(10) biosynthesis()

    Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q(10) biosynthesis() by Nguyen, Theresa P.T., Casarin, Alberto, Desbats, Maria Andrea, Doimo, Mara, Trevisson, Eva, Santos-Ocaña, Carlos, Navas, Placido, Clarke, Catherine F., Salviati, Leonardo

    Published 2014
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  16. 16
    Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

    Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants by Morbidoni, Valeria, Baschiera, Elisa, Forzan, Monica, Fumini, Valentina, Ali, Dario Seif, Giorgi, Gianpietro, Buson, Lisa, Desbats, Maria Andrea, Cassina, Matteo, Clementi, Maurizio, Salviati, Leonardo, Trevisson, Eva

    Published 2021
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  17. 17
    Expanding the mutational spectrum of LZTR1 in schwannomatosis

    Expanding the mutational spectrum of LZTR1 in schwannomatosis by Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, Papi, Laura

    Published 2015
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  18. 18
    Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function

    Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function by Vazquez Fonseca, Luis, Doimo, Mara, Calderan, Cristina, Desbats, Maria Andrea, Acosta, Manuel J., Cerqua, Cristina, Cassina, Matteo, Ashraf, Shazia, Hildebrandt, Friedhelm, Sartori, Geppo, Navas, Placido, Trevisson, Eva, Salviati, Leonardo

    Published 2017
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  19. 19
    Wilms tumor in patients with osteopathia striata with cranial sclerosis

    Wilms tumor in patients with osteopathia striata with cranial sclerosis by Bach, Alicia, Mi, Jingyi, Hunter, Matthew, Halliday, Benjamin J., García-Miñaúr, Sixto, Sperotto, Francesca, Trevisson, Eva, Markie, David, Morison, Ian M., Shinawi, Marwan, Willis, Daniel N., Robertson, Stephen P.

    Published 2020
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  20. 20
    Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

    Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis by López-Martín, José M., Salviati, Leonardo, Trevisson, Eva, Montini, Giovanni, DiMauro, Salvatore, Quinzii, Catarina, Hirano, Michio, Rodriguez-Hernandez, Angeles, Cordero, Mario D., Sánchez-Alcázar, José A., Santos-Ocaña, Carlos, Navas, Plácido

    Published 2007
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