Sfoglia per Autore
ANNUAL REPORT - IN VITRO STUDIES OF ENERGY DYSFUNCTION IN CLASSICAL-INFANTILE AND LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS
2015 Doccini, Stefano
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
Annual report - Proteomic analysis and molecular pathways in models of CLN5 disease
2016 Doccini, Stefano
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
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
Functional omics approaches towards affected molecular pathways underlying various forms of Neuronal Ceroid Lipofuscinoses
2018 Stefano Doccini
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| ANNUAL REPORT - IN VITRO STUDIES OF ENERGY DYSFUNCTION IN CLASSICAL-INFANTILE AND LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS | 2015 | Doccini, Stefano | |
| 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 | |
| Annual report - Proteomic analysis and molecular pathways in models of CLN5 disease | 2016 | Doccini, Stefano | |
| 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 | |
| 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 | |
| Functional omics approaches towards affected molecular pathways underlying various forms of Neuronal Ceroid Lipofuscinoses | 2018 | Stefano Doccini | |
| 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 | |
| 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 |
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