检索结果 - Servidei, Serenella

Sleep Disorders in Mitochondrial Diseases 由 Brunetti, Valerio, Della Marca, Giacomo, Servidei, Serenella, Primiano, Guido

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O035. Headaches in Mitochondrial Disorders 由 Vollono, Catello, Primiano, Giudo, Losurdo, Anna, Servidei, Serenella, Della Marca, Giacomo

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Impairment of skeletal muscle adenosine triphosphate–sensitive K(+) channels in patients with hypokalemic periodic paralysis 由 Tricarico, Domenico, Servidei, Serenella, Tonali, Pietro, Jurkat-Rott, Karin, Camerino, Diana Conte

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Focal status epilepticus as unique clinical feature of COVID-19: A case report 由 Vollono, Catello, Rollo, Eleonora, Romozzi, Marina, Frisullo, Giovanni, Servidei, Serenella, Borghetti, Alberto, Calabresi, Paolo

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CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report 由 Romozzi, Marina, Primiano, Guido, Rollo, Eleonora, Travaglini, Lorena, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello

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Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study 由 Primiano, Guido, Mariotti, Paolo, Turrini, Ida, Sancricca, Cristina, Sabino, Andrea, Torraco, Alessandra, Carrozzo, Rosalba, Servidei, Serenella

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Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases 由 Primiano, Guido, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella

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Macular impairment in mitochondrial diseases: a potential biomarker of disease severity 由 Primiano, Guido, Abed, Edoardo, Corbo, Giovanni, Minnella, Angelo Maria, Servidei, Serenella, Vollono, Catello, Savastano, Maria Cristina, Falsini, Benedetto

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The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study 由 Fabbri, Alessia, Travaglione, Sara, Maroccia, Zaira, Guidotti, Marco, Pierri, Ciro Leonardo, Primiano, Guido, Servidei, Serenella, Loizzo, Stefano, Fiorentini, Carla

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Small Fibre Involvement in Multifocal Motor Neuropathy Explored with Sudoscan: A Single-Centre Experience 由 Luigetti, Marco, Giovannini, Silvia, Romano, Angela, Bisogni, Giulia, Barbato, Francesco, Di Paolantonio, Andrea, Servidei, Serenella, Granata, Giuseppe, Sabatelli, Mario

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Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study 由 Primiano, Guido, Verdolotti, Tommaso, D’Apolito, Gabriella, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Lucioli, Gabriele, Luigetti, Marco, Servidei, Serenella

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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study 由 Peterlin, Borut, Gualandi, Francesca, Maver, Ales, Servidei, Serenella, van der Maarel, Silvère M., Lamy, Francoise, Mejat, Alexander, Evangelista, Teresinha, Ferlini, Alessandra

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Genetic Counseling and NGS Screening for Recessive LGMD2A Families 由 Strafella, Claudia, Caputo, Valerio, Campoli, Giulia, Galota, Rosaria Maria, Mela, Julia, Zampatti, Stefania, Minozzi, Giulietta, Sancricca, Cristina, Servidei, Serenella, Giardina, Emiliano, Cascella, Raffaella

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Instrumental Evaluation of COVID-19 Related Dysautonomia in Non-Critically-Ill Patients: An Observational, Cross-Sectional Study 由 Bellavia, Simone, Scala, Irene, Luigetti, Marco, Brunetti, Valerio, Gabrielli, Maurizio, Zileri Dal Verme, Lorenzo, Servidei, Serenella, Calabresi, Paolo, Frisullo, Giovanni, Della Marca, Giacomo

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Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report 由 Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio

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Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies 由 Gervasoni, Jacopo, Primiano, Aniello, Marini, Federico, Sabino, Andrea, Biancolillo, Alessandra, Calvani, Riccardo, Picca, Anna, Marzetti, Emanuele, Persichilli, Silvia, Urbani, Andrea, Servidei, Serenella, Primiano, Guido

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Impact of COVID-19 vaccine on epilepsy in adult subjects: an Italian multicentric experience 由 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

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Normal and Dystrophin-Deficient Muscle Fibers in Carriers of the Gene for Duchenne Muscular Dystrophy 由 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

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SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy 由 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

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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 由 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

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