CARLI, SARA
CARLI, SARA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Ricercatori a tempo determinato
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction
2024 Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Grippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
2024 Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.; Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C.
Mitochondrial metabolism in neural stem cells and implications for neurodevelopmental and neurodegenerative diseases
2024 Garone, C; De Giorgio, F; Carli, S
A comprehensive longitudinal study of magnetic resonance imaging identifies novel features of the Mecp2 deficient mouse brain
2023 Sara Carli; Linda Chaabane; Giuseppina De Rocco; Elena Albizzati; Irene Sormonta; Stefano Calligaro; Pietro Bonizzi; Angelisa Frasca; Nicoletta Landsberger
In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions
2021 Carli S.; Chaabane L.; Butti C.; De Palma C.; Aimar P.; Salio C.; Vignoli A.; Giustetto M.; Landsberger N.; Frasca A.
A Novel Mecp2 Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome
2019 Gandaglia A.; Brivio E.; Carli S.; Palmieri M.; Bedogni F.; Stefanelli G.; Bergo A.; Leva B.; Cattaneo C.; Pizzamiglio L.; Cicerone M.; Bianchi V.; Kilstrup-Nielsen C.; D'Annessa I.; Di Marino D.; D'Adamo P.; Antonucci F.; Frasca A.; Landsberger N.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction | Pettenuzzo, Ilaria; Carli, Sara; Sánchez-Cuesta, Ana; Isidori, Federica; Montanari, Francesca; Gr...ippa, Mina; Lanzoni, Giulia; Ambrosetti, Irene; Di Pisa, Veronica; Cordelli, Duccio Maria; Mondardini, Maria Cristina; Pippucci, Tommaso; Ragni, Luca; Cenacchi, Giovanna; Costa, Roberta; Lima, Mario; Capristo, Maria Antonietta; Tropeano, Concetta Valentina; Caporali, Leonardo; Carelli, Valerio; Brunelli, Elena; Maffei, Monica; Ahmed Sheikhmaye, Hodman; Fetta, Anna; Brea-Calvo, Gloria; Garone, Caterina | 2024-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | 420 COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.pdf; 41431_2024_1615_MOESM3_ESM.docx; 41431_2024_1615_MOESM2_ESM.docx |
| Deoxyguanosine kinase deficiency: natural history and liver transplant outcome | Manzoni E.; Carli S.; Gaignard P.; Schlieben L.D.; Hirano M.; Ronchi D.; Gonzales E.; Shimura M.;... Murayama K.; Okazaki Y.; Baric I.; Petkovic Ramadza D.; Karall D.; Mayr J.; Martinelli D.; La Morgia C.; Primiano G.; Santer R.; Servidei S.; Bris C.; Cano A.; Furlan F.; Gasperini S.; Laborde N.; Lamperti C.; Lenz D.; Mancuso M.; Montano V.; Menni F.; Musumeci O.; Nesbitt V.; Procopio E.; Rouzier C.; Staufner C.; Taanman J.-W.; Tal G.; Ticci C.; Cordelli D.M.; Carelli V.; Procaccio V.; Prokisch H.; Garone C. | 2024-01-01 | BRAIN COMMUNICATIONS | - | 1.01 Articolo in rivista | dGK_Manzonietal.pdf; fcae160_supplementary_data.zip |
| Mitochondrial metabolism in neural stem cells and implications for neurodevelopmental and neurodegenerative diseases | Garone, C; De Giorgio, F; Carli, S | 2024-01-01 | JOURNAL OF TRANSLATIONAL MEDICINE | - | 1.01 Articolo in rivista | Garone_et_al-2024-Journal_of_Translational_Medicine.pdf; 12967_2024_5041_MOESM1_ESM.docx |
| A comprehensive longitudinal study of magnetic resonance imaging identifies novel features of the Mecp2 deficient mouse brain | Sara Carli; Linda Chaabane; Giuseppina De Rocco; Elena Albizzati; Irene Sormonta; Stefano Calliga...ro; Pietro Bonizzi; Angelisa Frasca; Nicoletta Landsberger | 2023-01-01 | NEUROBIOLOGY OF DISEASE | - | 1.01 Articolo in rivista | 1-s2.0-S0969996123000979-main.pdf; 1-s2.0-S0969996123000979-mmc1.docx |
| In vivo magnetic resonance spectroscopy in the brain of Cdkl5 null mice reveals a metabolic profile indicative of mitochondrial dysfunctions | Carli S.; Chaabane L.; Butti C.; De Palma C.; Aimar P.; Salio C.; Vignoli A.; Giustetto M.; Lands...berger N.; Frasca A. | 2021-01-01 | JOURNAL OF NEUROCHEMISTRY | - | 1.01 Articolo in rivista | jnc.15300.pdf |
| A Novel Mecp2 Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome | Gandaglia A.; Brivio E.; Carli S.; Palmieri M.; Bedogni F.; Stefanelli G.; Bergo A.; Leva B.; Cat...taneo C.; Pizzamiglio L.; Cicerone M.; Bianchi V.; Kilstrup-Nielsen C.; D'Annessa I.; Di Marino D.; D'Adamo P.; Antonucci F.; Frasca A.; Landsberger N. | 2019-01-01 | MOLECULAR NEUROBIOLOGY | - | 1.01 Articolo in rivista | - |