Sleep Disorders in Mitochondrial Diseases

por Brunetti, Valerio, Della Marca, Giacomo, Servidei, Serenella, Primiano, Guido
Publicado 2021

Current Evidence Supporting the Role of Immune Response in ATTRv Amyloidosis

por Plantone, Domenico, Primiano, Guido, Righi, Delia, Romano, Angela, Luigetti, Marco, De Stefano, Nicola
Publicado 2023

Vitamin D in Neurological Diseases

por Plantone, Domenico, Primiano, Guido, Manco, Carlo, Locci, Sara, Servidei, Serenella, De Stefano, Nicola
Publicado 2022

CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report

por Romozzi, Marina, Primiano, Guido, Rollo, Eleonora, Travaglini, Lorena, Calabresi, Paolo, Servidei, Serenella, Vollono, Catello
Publicado 2021

Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases

por Cadoni, Gabriella, Primiano, Guido, Picciotti, Pasqualina M., Calandrelli, Rosalinda, Galli, Jacopo, Servidei, Serenella, Conti, Guido
Publicado 2023

Long-Term Safety and Usefulness of Mexiletine in a Large Cohort of Patients Affected by Non-dystrophic Myotonias

por Modoni, Anna, D'Amico, Adele, Primiano, Guido, Capozzoli, Fiorentino, Desaphy, Jean-François, Lo Monaco, Mauro
Publicado 2020

Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study

por Primiano, Guido, Mariotti, Paolo, Turrini, Ida, Sancricca, Cristina, Sabino, Andrea, Torraco, Alessandra, Carrozzo, Rosalba, Servidei, Serenella
Publicado 2021

Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases

por Primiano, Guido, Torraco, Alessandra, Verrigni, Daniela, Sabino, Andrea, Bertini, Enrico, Carrozzo, Rosalba, Silvestri, Gabriella, Servidei, Serenella
Publicado 2022

Macular impairment in mitochondrial diseases: a potential biomarker of disease severity

por Primiano, Guido, Abed, Edoardo, Corbo, Giovanni, Minnella, Angelo Maria, Servidei, Serenella, Vollono, Catello, Savastano, Maria Cristina, Falsini, Benedetto
Publicado 2020

The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study

por Fabbri, Alessia, Travaglione, Sara, Maroccia, Zaira, Guidotti, Marco, Pierri, Ciro Leonardo, Primiano, Guido, Servidei, Serenella, Loizzo, Stefano, Fiorentini, Carla
Publicado 2018

Muscle MRI as a Useful Biomarker in Hereditary Transthyretin Amyloidosis: A Pilot Study

por Primiano, Guido, Verdolotti, Tommaso, D’Apolito, Gabriella, Di Paolantonio, Andrea, Guglielmino, Valeria, Romano, Angela, Lucioli, Gabriele, Luigetti, Marco, Servidei, Serenella
Publicado 2021

A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study

por Luigetti, Marco, Guglielmino, Valeria, Romano, Angela, Sciarrone, Maria Ausilia, Vitali, Francesca, Sabino, Andrea, Gervasoni, Jacopo, Primiano, Aniello, Santucci, Lavinia, Moroni, Rossana, Primiano, Guido
Publicado 2022

Clinical utility of genetic testing in the early diagnosis of Danon disease mimicking hypertrophic cardiomyopathy: a case report

por Novelli, Valeria, Bisignani, Antonio, Pelargonio, Gemma, Primiano, Guido, Narducci, Maria Lucia, Palmieri, Vincenzo, Tiziano, Francesco Danilo, Zeppilli, Paolo, Servidei, Serenella, Crea, Filippo, Genuardi, Maurizio
Publicado 2020

Fourier-Transform Infrared Spectroscopy of Skeletal Muscle Tissue: Expanding Biomarkers in Primary Mitochondrial Myopathies

por Gervasoni, Jacopo, Primiano, Aniello, Marini, Federico, Sabino, Andrea, Biancolillo, Alessandra, Calvani, Riccardo, Picca, Anna, Marzetti, Emanuele, Persichilli, Silvia, Urbani, Andrea, Servidei, Serenella, Primiano, Guido
Publicado 2020

Serum Inflammatory Profile in Hereditary Transthyretin Amyloidosis: Mechanisms and Possible Therapeutic Implications

por Luigetti, Marco, Romano, Angela, Guglielmino, Valeria, Sciarrone, Maria Ausilia, Vitali, Francesca, Carbone, Carmine, Piro, Geny, Sabino, Andrea, De Stefano, Nicola, Plantone, Domenico, Primiano, Guido
Publicado 2022

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

por 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
Publicado 2021

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

por 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
Publicado 2021

Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report

por Strafella, Claudia, Campoli, Giulia, Galota, Rosaria Maria, Caputo, Valerio, Pagliaroli, Giulia, Carboni, Stefania, Zampatti, Stefania, Peconi, Cristina, Mela, Julia, Sancricca, Cristina, Primiano, Guido, Minozzi, Giulietta, Servidei, Serenella, Cascella, Raffaella, Giardina, Emiliano
Publicado 2019

A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy

por Southwell, Nneka, Primiano, Guido, Nadkarni, Viraj, Attarwala, Nabeel, Beattie, Emelie, Miller, Dawson, Alam, Sumaitaah, Liparulo, Irene, Shurubor, Yevgeniya I, Valentino, Maria Lucia, Carelli, Valerio, Servidei, Serenella, Gross, Steven S, Manfredi, Giovanni, Chen, Qiuying, D'Aurelio, Marilena
Publicado 2023

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients

por Musumeci, Olimpia, Barca, Emanuele, Lamperti, Costanza, Servidei, Serenella, Comi, Giacomo Pietro, Moggio, Maurizio, Mongini, Tiziana, Siciliano, Gabriele, Filosto, Massimiliano, Pegoraro, Elena, Primiano, Guido, Ronchi, Dario, Vercelli, Liliana, Orsucci, Daniele, Bello, Luca, Zeviani, Massimo, Mancuso, Michelangelo, Toscano, Antonio
Publicado 2019