FAEDO, ELENA
FAEDO, ELENA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY
2023-01-01 Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M
Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy
2021-01-01 Marchese, Francesca; Faedo, Elena; Vari, Maria Stella; Bergonzini, Patrizia; Iacomino, Michele; Guerra, Azzurra; Franceschetti, Laura; Baroni, Alessandra; Scudieri, Paolo; Minetti, Carlo; Striano, Pasquale
Case report: A single novel calpain 3 gene variant associated with mild myopathy
2024-01-01 Massucco, S.; Fossa, P.; Fiorillo, C.; Faedo, E.; Gemelli, C.; Barresi, R.; Ripolone, M.; Patrone, S.; Gaudio, A.; Mandich, P.; Gotta, F.; Baratto, S.; Traverso, M.; Pisciotta, L.; Zaottini, F.; Camera, M.; Scarsi, E.; Grandis, M.
Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases
2024-01-01 Scarsi, Elena; Massucco, Sara; Hamedani, Mehrnaz; Faedo, Elena; Boutros, Andrea; Genova, Carlo; Schenone, Angelo; Grandis, Marina
Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature
2024-01-01 Massucco, Sara; Schenone, Cristina; Faedo, Elena; Gemelli, Chiara; Bellone, Emilia; Marinelli, Lucio; Pareyson, Davide; Pisciotta, Chiara; Mongini, Tiziana; Schenone, Angelo; Grandis, Marina
Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand?
2025-01-01 Faedo, E; Tahiri, I; Alimi, C; Shoaito, H; Severa, G; Olivier, S; Degove, S; Richard, I; Malfatti, E
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature
2023-01-01 Massucco, Sara; Gemelli, Chiara; Bellone, Emilia; Geroldi, Alessandro; Patrone, Serena; Mandich, Paola; Scarsi, Elena; Faedo, Elena; Marinelli, Lucio; Mongini, Tiziana; Traverso, Monica; Baratto, Serena; Schenone, Angelo; Fiorillo, Chiara; Grandis, Marina
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY | 1-gen-2023 | Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M | |
| Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy | 1-gen-2021 | Marchese, Francesca; Faedo, Elena; Vari, Maria Stella; Bergonzini, Patrizia; Iacomino, Michele; Guerra, Azzurra; Franceschetti, Laura; Baroni, Alessandra; Scudieri, Paolo; Minetti, Carlo; Striano, Pasquale | |
| Case report: A single novel calpain 3 gene variant associated with mild myopathy | 1-gen-2024 | Massucco, S.; Fossa, P.; Fiorillo, C.; Faedo, E.; Gemelli, C.; Barresi, R.; Ripolone, M.; Patrone, S.; Gaudio, A.; Mandich, P.; Gotta, F.; Baratto, S.; Traverso, M.; Pisciotta, L.; Zaottini, F.; Camera, M.; Scarsi, E.; Grandis, M. | |
| Immune Checkpoint Inhibitors-Related Myastenia Gravis, Myocarditis and Myositis: A Systematic Review of Cases | 1-gen-2024 | Scarsi, Elena; Massucco, Sara; Hamedani, Mehrnaz; Faedo, Elena; Boutros, Andrea; Genova, Carlo; Schenone, Angelo; Grandis, Marina | |
| Respiratory involvement and sleep-related disorders in CMT1A: case report and review of the literature | 1-gen-2024 | Massucco, Sara; Schenone, Cristina; Faedo, Elena; Gemelli, Chiara; Bellone, Emilia; Marinelli, Lucio; Pareyson, Davide; Pisciotta, Chiara; Mongini, Tiziana; Schenone, Angelo; Grandis, Marina | |
| Review: Limb-girdle muscular dystrophies (LGMDs) existing registries and natural history studies: Where do we stand? | 1-gen-2025 | Faedo, E; Tahiri, I; Alimi, C; Shoaito, H; Severa, G; Olivier, S; Degove, S; Richard, I; Malfatti, E | |
| Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature | 1-gen-2023 | Massucco, Sara; Gemelli, Chiara; Bellone, Emilia; Geroldi, Alessandro; Patrone, Serena; Mandich, Paola; Scarsi, Elena; Faedo, Elena; Marinelli, Lucio; Mongini, Tiziana; Traverso, Monica; Baratto, Serena; Schenone, Angelo; Fiorillo, Chiara; Grandis, Marina |