CAPPONI, SIMONA
CAPPONI, SIMONA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.
2012-01-01 Manganelli, F; Pisciotta, C; Nolano, M; Capponi, Simona; Geroldi, Alessandro; Topa, A; Bellone, Emilia; Suls, A; Mandich, Paola; Santoro, L.
A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.
2014-01-01 Ciotti, P; Luigetti, M; Geroldi, Alessandro; Capponi, Simona; Pezzini, I; Gulli, R; Pazzaglia, C; Padua, L; Massa, R; Mandich, Paola; Bellone, Emilia
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
2014-01-01 Manganelli, F; Tozza, S; Pisciotta, C; Bellone, Emilia; Iodice, R; Nolano, M; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, L.
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
2009-01-01 Mandich, Paola; Fossa, Paola; Capponi, Simona; Geroldi, S; Acquaviva, M; Gulli, R; Ciotti, P; Manganelli, F; Grandis, Marina; Bellone, Emilia
Contribution of copy number variations in CMT1X: a retrospective study.
2015-01-01 Capponi, Simona; Geroldi, Alessandro; Pezzini, I; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, L; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia
Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations
2012-01-01 Prada, V1; Passalacqua, Mario; Bono, M; Luzzi, Paola; Scazzola, S; Nobbio, La; Capponi, Simona; Bellone, Emilia; Mandich, Paola; Mancardi, GIOVANNI LUIGI; Shy, M; Schenone, Angelo; Grandis, Marina
GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course
2016-01-01 Pezzini, I; Geroldi, Alessandro; Capponi, Simona; Gulli, Rossella; Schenone, Angelo; Grandis, Marina; Doria Lamba, L; La Piana, C; Cremonte, M; Pisciotta, C; Nolano, M; Manganelli, F; Santoro, L; Mandich, Paola; Bellone, Emilia
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients
2011-01-01 Capponi, Simona; Geroldi, Alessandro; Fossa, Paola; Grandis, Marina; Paola, Ciotti; Rossella, Gulli; Schenone, Angelo; Mandich, Paola; Bellone, Emilia
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1
2016-01-01 Capponi, Simona; Geuens, Thomas; Geroldi, Alessandro; Origone, Paola; Verdiani, Simonetta; Cichero, Elena; Adriaenssens, Elias; De Winter, Vicky; BANDETTINI DI POGGIO, MONICA LAURA; Barberis, Marco; Chiò, Adriano; Fossa, Paola; Mandich, Paola; Bellone, Emilia; Timmerman, Vincent
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.
2015-01-01 Prada, Valeria; Capponi, Simona; Ursino, Giulia; Alberti, A; Callegari, I; Passalacqua, Mario; Marotta, Riccardo; Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Grandis, Marina
TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149.
2014-01-01 Palmieri, Daniela; Capponi, Simona; Geroldi, Alessandro; Mura, Marzia; Mandich, Paola; Palombo, Domenico
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family. | 1-gen-2012 | Manganelli, F; Pisciotta, C; Nolano, M; Capponi, Simona; Geroldi, Alessandro; Topa, A; Bellone, Emilia; Suls, A; Mandich, Paola; Santoro, L. | |
| A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease. | 1-gen-2014 | Ciotti, P; Luigetti, M; Geroldi, Alessandro; Capponi, Simona; Pezzini, I; Gulli, R; Pazzaglia, C; Padua, L; Massa, R; Mandich, Paola; Bellone, Emilia | |
| Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population. | 1-gen-2014 | Manganelli, F; Tozza, S; Pisciotta, C; Bellone, Emilia; Iodice, R; Nolano, M; Geroldi, Alessandro; Capponi, Simona; Mandich, Paola; Santoro, L. | |
| Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies | 1-gen-2009 | Mandich, Paola; Fossa, Paola; Capponi, Simona; Geroldi, S; Acquaviva, M; Gulli, R; Ciotti, P; Manganelli, F; Grandis, Marina; Bellone, Emilia | |
| Contribution of copy number variations in CMT1X: a retrospective study. | 1-gen-2015 | Capponi, Simona; Geroldi, Alessandro; Pezzini, I; Gulli, Rossella; Ciotti, Paola; Ursino, Giulia; Lamp, Merit; Reni, L; Schenone, Angelo; Grandis, Marina; Mandich, Paola; Bellone, Emilia | |
| Gain of glycosylation: a new pathomechanism of Myelin Protein Zero mutations | 1-gen-2012 | Prada, V1; Passalacqua, Mario; Bono, M; Luzzi, Paola; Scazzola, S; Nobbio, La; Capponi, Simona; Bellone, Emilia; Mandich, Paola; Mancardi, GIOVANNI LUIGI; Shy, M; Schenone, Angelo; Grandis, Marina | |
| GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course | 1-gen-2016 | Pezzini, I; Geroldi, Alessandro; Capponi, Simona; Gulli, Rossella; Schenone, Angelo; Grandis, Marina; Doria Lamba, L; La Piana, C; Cremonte, M; Pisciotta, C; Nolano, M; Manganelli, F; Santoro, L; Mandich, Paola; Bellone, Emilia | |
| HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients | 1-gen-2011 | Capponi, Simona; Geroldi, Alessandro; Fossa, Paola; Grandis, Marina; Paola, Ciotti; Rossella, Gulli; Schenone, Angelo; Mandich, Paola; Bellone, Emilia | |
| Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1 | 1-gen-2016 | Capponi, Simona; Geuens, Thomas; Geroldi, Alessandro; Origone, Paola; Verdiani, Simonetta; Cichero, Elena; Adriaenssens, Elias; De Winter, Vicky; BANDETTINI DI POGGIO, MONICA LAURA; Barberis, Marco; Chiò, Adriano; Fossa, Paola; Mandich, Paola; Bellone, Emilia; Timmerman, Vincent | |
| Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation. | 1-gen-2015 | Prada, Valeria; Capponi, Simona; Ursino, Giulia; Alberti, A; Callegari, I; Passalacqua, Mario; Marotta, Riccardo; Mandich, Paola; Bellone, Emilia; Schenone, Angelo; Grandis, Marina | |
| TNFα induces the expression of genes associated with endothelial dysfunction through p38MAPK-mediated down-regulation of miR-149. | 1-gen-2014 | Palmieri, Daniela; Capponi, Simona; Geroldi, Alessandro; Mura, Marzia; Mandich, Paola; Palombo, Domenico |