نتائج البحث - Servidei, Serenella
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CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report حسب Romozzi, Marina, Primiano, Guido, Rollo, Eleonora, Travaglini, Lorena, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello
منشور في 2021نص -
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Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study حسب Primiano, Guido, Mariotti, Paolo, Turrini, Ida, Sancricca, Cristina, Sabino, Andrea, Torraco, Alessandra, Carrozzo, Rosalba, Servidei, Serenella
منشور في 2021نص -
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Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases حسب Primiano, Guido, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella
منشور في 2022نص -
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Macular impairment in mitochondrial diseases: a potential biomarker of disease severity حسب Primiano, Guido, Abed, Edoardo, Corbo, Giovanni, Minnella, Angelo Maria, Servidei, Serenella, Vollono, Catello, Savastano, Maria Cristina, Falsini, Benedetto
منشور في 2020نص -
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The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study حسب Fabbri, Alessia, Travaglione, Sara, Maroccia, Zaira, Guidotti, Marco, Pierri, Ciro Leonardo, Primiano, Guido, Servidei, Serenella, Loizzo, Stefano, Fiorentini, Carla
منشور في 2018نص -
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Small Fibre Involvement in Multifocal Motor Neuropathy Explored with Sudoscan: A Single-Centre Experience حسب Luigetti, Marco, Giovannini, Silvia, Romano, Angela, Bisogni, Giulia, Barbato, Francesco, Di Paolantonio, Andrea, Servidei, Serenella, Granata, Giuseppe, Sabatelli, Mario
منشور في 2020نص -
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Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study حسب Primiano, Guido, Verdolotti, Tommaso, D’Apolito, Gabriella, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Lucioli, Gabriele, Luigetti, Marco, Servidei, Serenella
منشور في 2021نص -
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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study حسب Peterlin, Borut, Gualandi, Francesca, Maver, Ales, Servidei, Serenella, van der Maarel, Silvère M., Lamy, Francoise, Mejat, Alexander, Evangelista, Teresinha, Ferlini, Alessandra
منشور في 2020نص -
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Genetic Counseling and NGS Screening for Recessive LGMD2A Families حسب Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella
منشور في 2020نص -
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Instrumental Evaluation of COVID-19 Related Dysautonomia in Non-Critically-Ill Patients: An Observational, Cross-Sectional Study حسب Bellavia, Simone, Scala, Irene, Luigetti, Marco, Brunetti, Valerio, Gabrielli, Maurizio, Zileri Dal Verme, Lorenzo, Servidei, Serenella, Calabresi, Paolo, Frisullo, Giovanni, Della Marca, Giacomo
منشور في 2021نص -
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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report حسب Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio
منشور في 2020نص -
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Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies حسب Gervasoni, Jacopo, Primiano, Aniello, Marini, Federico, Sabino, Andrea, Biancolillo, Alessandra, Calvani, Riccardo, Picca, Anna, Marzetti, Emanuele, Persichilli, Silvia, Urbani, Andrea, Servidei, Serenella, Primiano, Guido
منشور في 2020نص -
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Impact of COVID-19 vaccine on epilepsy in adult subjects: an Italian multicentric experience حسب Romozzi, Marina, Rollo, Eleonora, Quintieri, Paolo, Dono, Fedele, Evangelista, Giacomo, Consoli, Stefano, Veleno, Luigi, Anzellotti, Francesca, Calvello, Carmen, Costa, Cinzia, Servidei, Serenella, Calabresi, Paolo, Vollono, Catello
منشور في 2022نص -
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Normal and Dystrophin-Deficient Muscle Fibers in Carriers of the Gene for Duchenne Muscular Dystrophy حسب Bonilla, Eduardo, Schmidt, Beny, Samitt, Craig E., Miranda, Armand F., Hays, Arthur P., De Oliveira, Acary B.S., Chang, Hai Won, Servidei, Serenella, Ricci, Enzo, Younger, David S., Dimauro, Salvatore
منشور في 1988نص -
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SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy حسب Mancuso, Michelangelo, La Morgia, Chiara, Valentino, Maria Lucia, Ardissone, Anna, Lamperti, Costanza, Procopio, Elena, Garone, Caterina, Siciliano, Gabriele, Musumeci, Olimpia, Toscano, Antonio, Primiano, Guido, Servidei, Serenella, Carelli, Valerio
منشور في 2021نص -
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Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties حسب Zanni, Ginevra, Hsiao, Cheng-Tsung, Fu, Ssu-Ju, Tang, Chih-Yung, Capuano, Alessandro, Bosco, Luca, Graziola, Federica, Bellacchio, Emanuele, Servidei, Serenella, Primiano, Guido, Soong, Bing-Wen, Jeng, Chung-Jiuan
منشور في 2021نص