OpenURL Connection Search

Select item for more details and to access through your institution.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Published in:
2017
By:
- Nasca, Alessia;
- Rizza, Teresa;
- Doimo, Mara;
- Legati, Andrea;
- Ciolfi, Andrea;
- Diodato, Daria;
- Calderan, Cristina;
- Carrara, Gianfranco;
- Lamantea, Eleonora;
- Aiello, Chiara;
- Di Nottia, Michela;
- Niceta, Marcello;
- Lamperti, Costanza;
- Ardissone, Anna;
- Bianchi-Marzoli, Stefania;
- Iarossi, Giancarlo;
- Bertini, Enrico;
- Moroni, Isabella;
- Tartaglia, Marco;
- Salviati, Leonardo
Publication type:
journal article
TERT Extra-Telomeric Roles: Antioxidant Activity and Mitochondrial Protection.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4450, doi. 10.3390/ijms24054450
By:
- Marinaccio, Jessica;
- Micheli, Emanuela;
- Udroiu, Ion;
- Di Nottia, Michela;
- Carrozzo, Rosalba;
- Baranzini, Nicolò;
- Grimaldi, Annalisa;
- Leone, Stefano;
- Moreno, Sandra;
- Muzzi, Maurizio;
- Sgura, Antonella
Publication type:
Article
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
Published in:
Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2023.1324013
By:
- Fabozzi, Francesco;
- Carrozzo, Rosalba;
- Lodi, Mariachiara;
- Di Giannatale, Angela;
- Cipri, Selene;
- Rosignoli, Chiara;
- Giovannoni, Isabella;
- Stracuzzi, Alessandra;
- Rizza, Teresa;
- Montante, Claudio;
- Agolini, Emanuele;
- Di Nottia, Michela;
- Galaverna, Federica;
- Del Baldo, Giada;
- Del Bufalo, Francesco;
- Mastronuzzi, Angela;
- De Ioris, Maria Antonietta
Publication type:
Article
CNF1 Improves Astrocytic Ability to Support Neuronal Growth and Differentiation In vitro.
Published in:
PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034115
By:
- Malchiodi-Albedi, Fiorella;
- Paradisi, Silvia;
- Di Nottia, Michela;
- Simone, Daiana;
- Travaglione, Sara;
- Falzano, Loredana;
- Guidotti, Marco;
- Frank, Claudio;
- Cutarelli, Alessandro;
- Fabbri, Alessia;
- Fiorentini, Carla
Publication type:
Article
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.
Published in:
FEBS Journal, 2014, v. 281, n. 15, p. 3473, doi. 10.1111/febs.12874
By:
- Travaglione, Sara;
- Loizzo, Stefano;
- Rizza, Teresa;
- Del Brocco, Antonella;
- Ballan, Giulia;
- Guidotti, Marco;
- Vona, Rosa;
- Di Nottia, Michela;
- Torraco, Alessandra;
- Carrozzo, Rosalba;
- Fiorentini, Carla;
- Fabbri, Alessia
Publication type:
Article
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
Published in:
Clinical Genetics, 2022, v. 102, n. 1, p. 56, doi. 10.1111/cge.14127
By:
- Torraco, Alessandra;
- Morlino, Silvia;
- Rizza, Teresa;
- Di Nottia, Michela;
- Bottaro, Giorgia;
- Bisceglia, Luigi;
- Montanari, Arianna;
- Cappa, Marco;
- Castori, Marco;
- Bertini, Enrico;
- Carrozzo, Rosalba
Publication type:
Article
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 4, p. 561, doi. 10.1093/hmg/ddab270
By:
- Carpentieri, Giovanna;
- Leoni, Chiara;
- Pietraforte, Donatella;
- Cecchetti, Serena;
- Iorio, Egidio;
- Belardo, Antonio;
- Pietrucci, Daniele;
- Nottia, Michela Di;
- Pajalunga, Deborah;
- Megiorni, Francesca;
- Mercurio, Laura;
- Tatti, Massimo;
- Camero, Simona;
- Marchese, Cinzia;
- Rizza, Teresa;
- Tirelli, Valentina;
- Onesimo, Roberta;
- Carrozzo, Rosalba;
- Rinalducci, Sara;
- Chillemi, Giovanni
Publication type:
Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 20, p. 3650, doi. 10.1093/hmg/ddy273
By:
- Torraco, Alessandra;
- Stehling, Oliver;
- Stümpfig, Claudia;
- Rösser, Ralf;
- Rasmo, Domenico De;
- Fiermonte, Giuseppe;
- Verrigni, Daniela;
- Rizza, Teresa;
- Vozza, Angelo;
- Nottia, Michela Di
Publication type:
Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 15, p. 2739, doi. 10.1093/hmg/ddy183
By:
- Torraco, Alessandra;
- Stehling, Oliver;
- Stümpfig, Claudia;
- Rösser, Ralf;
- Rasmo, Domenico De;
- Fiermonte, Giuseppe;
- Verrigni, Daniela;
- Rizza, Teresa;
- Vozza, Angelo;
- Nottia, Michela Di
Publication type:
Article
Inflammatory profile in mitochondrial diseases: A cohort study.
Published in:
European Journal of Neurology, 2023, v. 30, n. 10, p. 3409, doi. 10.1111/ene.15962
By:
- Primiano, Guido;
- Plantone, Domenico;
- Piro, Geny;
- Carbone, Carmine;
- Sabino, Andrea;
- Sancricca, Cristina;
- Di Nottia, Michela;
- Carrozzo, Rosalba;
- Servidei, Serenella
Publication type:
Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Published in:
Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
By:
- Torraco, Alessandra;
- Nasca, Alessia;
- Verrigni, Daniela;
- Pennisi, Alessandra;
- Zaki, Maha S.;
- Olivieri, Giorgia;
- Assouline, Zahra;
- Martinelli, Diego;
- Maroofian, Reza;
- Rizza, Teresa;
- Di Nottia, Michela;
- Invernizzi, Federica;
- Lamantea, Eleonora;
- Longo, Daniela;
- Houlden, Henry;
- Prokisch, Holger;
- Rötig, Agnès;
- Dionisi‐Vici, Carlo;
- Bertini, Enrico;
- Ghezzi, Daniele
Publication type:
Article
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1731, doi. 10.1002/humu.23777
By:
- Saoura, Makenzie;
- Powell, Christopher A.;
- Kopajtich, Robert;
- Alahmad, Ahmad;
- AL‐Balool, Haya H.;
- Albash, Buthaina;
- Alfadhel, Majid;
- Alston, Charlotte L.;
- Bertini, Enrico;
- Bonnen, Penelope E.;
- Bratkovic, Drago;
- Carrozzo, Rosalba;
- Donati, Maria A.;
- Di Nottia, Michela;
- Ghezzi, Daniele;
- Goldstein, Amy;
- Haan, Eric;
- Horvath, Rita;
- Hughes, Joanne;
- Invernizzi, Federica
Publication type:
Article
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
By:
- Verrigni, Daniela;
- Di Nottia, Michela;
- Ardissone, Anna;
- Baruffini, Enrico;
- Nasca, Alessia;
- Legati, Andrea;
- Bellacchio, Emanuele;
- Fagiolari, Gigliola;
- Martinelli, Diego;
- Fusco, Lucia;
- Battaglia, Domenica;
- Trani, Giulia;
- Versienti, Gianmarco;
- Marchet, Silvia;
- Torraco, Alessandra;
- Rizza, Teresa;
- Verardo, Margherita;
- D'Amico, Adele;
- Diodato, Daria;
- Moroni, Isabella
Publication type:
Article
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
Published in:
Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247
By:
- Di Nottia, Michela;
- Verrigni, Daniela;
- Torraco, Alessandra;
- Rizza, Teresa;
- Bertini, Enrico;
- Carrozzo, Rosalba;
- Lezza, Angela Maria Serena
Publication type:
Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782
By:
- Berti, Beatrice;
- Verrigni, Daniela;
- Nasca, Alessia;
- Di Nottia, Michela;
- Leone, Daniela;
- Torraco, Alessandra;
- Rizza, Teresa;
- Bellacchio, Emanuele;
- Legati, Andrea;
- Palermo, Concetta;
- Marchet, Silvia;
- Lamperti, Costanza;
- Novelli, Antonio;
- Mercuri, Eugenio Maria;
- Bertini, Enrico Silvio;
- Pane, Marika;
- Ghezzi, Daniele;
- Carrozzo, Rosalba
Publication type:
Article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
By:
- Di Nottia, Michela;
- Rizza, Teresa;
- Baruffini, Enrico;
- Nesti, Claudia;
- Torraco, Alessandra;
- Diodato, Daria;
- Martinelli, Diego;
- Canto, Flavio Dal;
- Gilea, Alexandru Ionut;
- Zoccola, Martina;
- Siri, Barbara;
- Dionisi-Vici, Carlo;
- Bertini, Enrico;
- Santorelli, Filippo Maria;
- Goffrini, Paola;
- Carrozzo, Rosalba
Publication type:
Article

Found: 16