检索结果 - Trevisson, Eva

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants 由 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

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Expanding the mutational spectrum of LZTR1 in schwannomatosis 由 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

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Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function 由 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

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Wilms tumor in patients with osteopathia striata with cranial sclerosis 由 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.

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Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis 由 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

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