Résultats de la recherche - Sferra, Antonella
- Résultat(s) 1 - 7 résultats de 7
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Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II par Nicita, Francesco, Sabatini, Letizia, Alesi, Viola, Lucignani, Giulia, Sallicandro, Ester, Sferra, Antonella, Bertini, Enrico, Zanni, Ginevra, Palumbo, Giuseppe
Publié 2022Texte -
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The Interaction with HMG20a/b Proteins Suggests a Potential Role for β-Dystrobrevin in Neuronal Differentiation par Artegiani, Benedetta, Labbaye, Catherine, Sferra, Antonella, Quaranta, Maria Teresa, Torreri, Paola, Macchia, Gianfranco, Ceccarini, Marina, Petrucci, Tamara C., Macioce, Pompeo
Publié 2010Texte -
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TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics par Sferra, Antonella, Petrini, Stefania, Bellacchio, Emanuele, Nicita, Francesco, Scibelli, Francesco, Dentici, Maria Lisa, Alfieri, Paolo, Cestra, Gianluca, Bertini, Enrico Silvio, Zanni, Ginevra
Publié 2020Texte -
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TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy par Sferra, Antonella, Baillat, Gilbert, Rizza, Teresa, Barresi, Sabina, Flex, Elisabetta, Tasca, Giorgio, D’Amico, Adele, Bellacchio, Emanuele, Ciolfi, Andrea, Caputo, Viviana, Cecchetti, Serena, Torella, Annalaura, Zanni, Ginevra, Diodato, Daria, Piermarini, Emanuela, Niceta, Marcello, Coppola, Antonietta, Tedeschi, Enrico, Martinelli, Diego, Dionisi-Vici, Carlo, Nigro, Vincenzo, Dallapiccola, Bruno, Compagnucci, Claudia, Tartaglia, Marco, Haase, Georg, Bertini, Enrico
Publié 2016Texte -
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Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy par Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco
Publié 2016Texte