CARECCHIO, MIRYAM
CARECCHIO, MIRYAM
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome
2022 Lenzini, L; Carecchio, M; Iori, E; Legati, A; Lamantea, E; Avogaro, A; Vitturi, N
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia
2021 Kuipers, D; Mandemakers, W; Lu, C; Olgiati, S; Breedveld, G; Fevga, C; Tadic, V; Carecchio, M; Osterman, B; Sagi-Dain, L; Wu-Chou, Y; Chen, C; Chang, H; Wu, S; Yeh, T; Weng, Y; Elia, A; Panteghini, C; Marotta, N; Pauly, M; Kuhn, A; Volkmann, J; Lace, B; Meijer, I; Kandaswamy, K; Quadri, M; Garavaglia, B; Lohmann, K; Bauer, P; Mencacci, N; Lubbe, S; Klein, C; Bertoli-Avella, A; Bonifati, V
Molecular genetics of niemann–pick type c disease in italy: An update on 105 patients and description of 18 NPC1 novel variants
2020 Dardis, A; Zampieri, S; Gellera, C; Carrozzo, R; Cattarossi, S; Peruzzo, P; Dariol, R; Sechi, A; Deodato, F; Caccia, C; Verrigni, D; Gasperini, S; Fiumara, A; Fecarotta, S; Carecchio, M; Filosto, M; Santoro, L; Borroni, B; Bordugo, A; Brancati, F; Russo, C; Di Rocco, M; Toscano, A; Scarpa, M; Bembi, B
The impact of Next Generation Sequencing in rare movement disorders diagnosis: results from a tertiary referral center.
2018 Carecchio, M
SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment
2017 Mignarri, A; Carecchio, M; Del Puppo, M; Magistrelli, L; Di Bella, D; Monti, L; Dotti, M
| Titolo | Tipologia | Data di pubblicazione | Autori | File |
|---|---|---|---|---|
| A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome | 01 - Articolo su rivista | 2022 | Carecchio M. + | |
| EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia | 01 - Articolo su rivista | 2021 | Carecchio M. + | |
| Molecular genetics of niemann–pick type c disease in italy: An update on 105 patients and description of 18 NPC1 novel variants | 01 - Articolo su rivista | 2020 | Carecchio M. + | |
| The impact of Next Generation Sequencing in rare movement disorders diagnosis: results from a tertiary referral center. | 07 - Tesi di dottorato Bicocca post 2009 | 2018 | CARECCHIO, MIRYAM | |
| SPG5 siblings with different phenotypes showing reduction of 27-hydroxycholesterol after simvastatin-ezetimibe treatment | 01 - Articolo su rivista | 2017 | Carecchio, MDel Puppo, M + |