DOCCINI, STEFANO
DOCCINI, STEFANO
Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome
2023 Claudia Nesti , Chiara Ticci , Anna Rubegni , Stefano Doccini , Giusi Scaturro , Annalisa Vetro , Renzo Guerrini , Filippo M Santorelli , Elena Procopio
ANNUAL REPORT - IN VITRO STUDIES OF ENERGY DYSFUNCTION IN CLASSICAL-INFANTILE AND LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS
2015 Doccini, Stefano
Annual report - Proteomic analysis and molecular pathways in models of CLN5 disease
2016 Doccini, Stefano
Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction
2021 Berti, Beatrice; Longo, Giovanna; Mari, Francesco; Doccini, Stefano; Piccolo, Ilaria; Donati, Maria Alice; Moro, Francesca; Guerrini, Renzo; Santorelli, Filippo M.; Petruzzella, Vittoria
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD
2016 Doccini, Stefano; Sartori, Stefano; Maeser, Stefan; Pezzini, Francesco; Rossato, Sara; Moro, Francesca; Toldo, Irene; Przybylski, Michael; Santorelli, Filippo M.*; Simonati, Alessandro
Functional omics approaches towards affected molecular pathways underlying various forms of Neuronal Ceroid Lipofuscinoses
2018 Stefano Doccini
Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome
2015 Doccini, Stefano; Meschini, Maria Chiara; Mei, Davide; Guerrini, Renzo; Sicca, Federico; Santorelli, Filippo Maria
The networks of genes encoding palmitoylated proteins in axonal and synaptic compartments are affected in PPT1 overexpressing neuronal-like cells
2017 Pezzini, Francesco; Bianchi, Marzia; Benfatto, Salvatore; Griggio, Francesca; Doccini, Stefano; Carrozzo, Rosalba; Dapkunas, Arvydas; Delledonne, Massimo; Santorelli, Filippo M.; Lalowski, Maciej M.*; Simonati, Alessandro
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome | 2023 | Claudia Nesti , Chiara Ticci , Anna Rubegni , Stefano Doccini , Giusi Scaturro , Annalisa Vetro , Renzo Guerrini , Filippo M Santorelli , Elena Procopio | |
| ANNUAL REPORT - IN VITRO STUDIES OF ENERGY DYSFUNCTION IN CLASSICAL-INFANTILE AND LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS | 2015 | Doccini, Stefano | |
| Annual report - Proteomic analysis and molecular pathways in models of CLN5 disease | 2016 | Doccini, Stefano | |
| Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction | 2021 | Berti, Beatrice; Longo, Giovanna; Mari, Francesco; Doccini, Stefano; Piccolo, Ilaria; Donati, Maria Alice; Moro, Francesca; Guerrini, Renzo; Santorelli, Filippo M.; Petruzzella, Vittoria | |
| Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD | 2016 | Doccini, Stefano; Sartori, Stefano; Maeser, Stefan; Pezzini, Francesco; Rossato, Sara; Moro, Francesca; Toldo, Irene; Przybylski, Michael; Santorelli, Filippo M.*; Simonati, Alessandro | |
| Functional omics approaches towards affected molecular pathways underlying various forms of Neuronal Ceroid Lipofuscinoses | 2018 | Stefano Doccini | |
| Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome | 2015 | Doccini, Stefano; Meschini, Maria Chiara; Mei, Davide; Guerrini, Renzo; Sicca, Federico; Santorelli, Filippo Maria | |
| The networks of genes encoding palmitoylated proteins in axonal and synaptic compartments are affected in PPT1 overexpressing neuronal-like cells | 2017 | Pezzini, Francesco; Bianchi, Marzia; Benfatto, Salvatore; Griggio, Francesca; Doccini, Stefano; Carrozzo, Rosalba; Dapkunas, Arvydas; Delledonne, Massimo; Santorelli, Filippo M.; Lalowski, Maciej M.*; Simonati, Alessandro |