PATRONE, SERENA
PATRONE, SERENA
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY
2023-01-01 Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy?
2022-01-01 Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS
2024-01-01 Geroldi, A; Mammi, A; Gaudio, A; Patrone, S; La Barbera, A; Origone, P; Ponti, C; Sanguineri, F; Massucco, S; Marinelli, L; Grandis, M; Schenone, A; Mandich, P; Bellone, E; Gotta, F
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia
2022-01-01 Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia
Case report: Episodic ataxia without ataxia?
2023-01-01 Gaudio, Andrea; Gotta, Fabio; Ponti, Clarissa; Sanguineri, Francesca; Trevisan, Lucia; Geroldi, Alessandro; Patrone, Serena; Gemelli, Chiara; Cabona, Corrado; Astrea, Guja; Fiorillo, Chiara; Gustincich, Stefano; Grandis, Marina; Mandich, Paola
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement
2024-01-01 Geroldi, Alessandro; Ponti, Clarissa; Mammi, Alessia; Patrone, Serena; Gotta, Fabio; Trevisan, Lucia; Sanguineri, Francesca; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Cataldi, Matteo; Gemelli, Chiara; Massucco, Sara; Schenone, Angelo; Lanteri, Paola; Fiorillo, Chiara; Grandis, Marina; Mandich, Paola; Bellone, Emilia
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years
2022-01-01 Gemelli, C.; Geroldi, A.; Massucco, S.; Trevisan, L.; Callegari, I.; Marinelli, L.; Ursino, G.; Hamedani, M.; Mennella, G.; Stara, S.; Maggi, G.; Mori, L.; Schenone, C.; Gotta, F.; Patrone, S.; Mammi, A.; Origone, P.; Prada, V.; Nobbio, L.; Mandich, P.; Schenone, A.; Bellone, E.; Grandis, M.
How many mutations does it take to make a uveal melanoma?
2019-01-01 Piaggio, Francesca; Tozzo, Veronica; Bernardi, Cinzia; Croce, Michela; LO SICCO, Claudia; Gangemi, Rosaria; Puzone, Roberto; Viaggi, Silvia; Patrone, Serena; Barla, Annalisa; Coviello, Domenico; Jager, Martine J.; van der Velden, Pieter A.; Cangelosi, Davide; Eva, Alessandra; Ferrini, Silvano; Pfeffer, Ulrich; Amaro, ADRIANA AGNESE
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
2024-01-01 Geroldi, Alessandro; Mammi, Alessia; Gaudio, Andrea; Patrone, Serena; La Barbera, Andrea; Origone, Paola; Ponti, Clarissa; Sanguineri, Francesca; Massucco, Sara; Marinelli, Lucio; Grandis, Marina; Schenone, Angelo; Mandich, Paola; Bellone, Emilia; Gotta, Fabio
Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma
2018-01-01 Patrone, Serena; Maric, Irena; Rutigliani, Mariangela; Lanza, Francesco; Puntoni, Matteo; Banelli, Barbara; Rancati, Silvia; Angelini, Giovanna; Amaro, Adriana; Ligorio, Paolo; Defferrari, Carlotta; Castagnetta, Mauro; Bandelloni, Roberto; Mosci, Carlo; Decensi, Andrea; Romani, Massimo; Pfeffer, Urlich; Viaggi, Silvia; Coviello, Domenico A
Prognostic value of specific chromosome imbalances, mutation profile, and BAP1 expression in uveal melanoma
2018-05-21 Patrone, Serena
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT
2023-01-01 La Barbera, A; Geroldi, A; Origone, P; Patrone, S; Mammi, A; Gaudio, A; Gotta, F; Ponti, C; Sanguineri, F; Gemelli, C; Massucco, S; Marinelli, L; Grandis, M; Schenone, A; Mandich, P; Bellone, E
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma
2019-01-01 Piaggio, Francesca; Tozzo, Veronica; Bernardi, Cinzia; Croce, Michela; Puzone, Roberto; Viaggi, Silvia; Patrone, Serena; Barla, Annalisa; Coviello, Domenico; J. Jager, Martine; van der Velden, Pieter A.; Zeschnigk, Michael; Cangelosi, Davide; Eva, Alessandra; Pfeffer, Ulrich; Amaro, Adriana
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature
2023-01-01 Massucco, Sara; Gemelli, Chiara; Bellone, Emilia; Geroldi, Alessandro; Patrone, Serena; Mandich, Paola; Scarsi, Elena; Faedo, Elena; Marinelli, Lucio; Mongini, Tiziana; Traverso, Monica; Baratto, Serena; Schenone, Angelo; Fiorillo, Chiara; Grandis, Marina
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
A CASE OF BIALLELIC SORD MUTATIONS ASSOCIATED WITH DISTAL WEAKNESS AND HISTOLOGICAL SIGNS OF MYOPATHY | 1-gen-2023 | Massucco, S; Fiorillo, C; Gemelli, C; Bellone, E; Patrone, S; Mandich, P; Scarsi, E; Faedo, E; Marinelli, L; Mongini, T; Traverso, M; Schenone, A; Grandis, M | |
A misleading presentation of Mohr–Tranebjaerg syndrome: what is hidden behind an axonal neuropathy? | 1-gen-2022 | Geroldi, Alessandro; Trevisan, Lucia; Gaudio, Andrea; Gotta, Fabio; Patrone, Serena; Origone, Paola; Grandis, Marina; Gemelli, Chiara; Schenone, Angelo; Accogli, Andrea; Zara, Federico; Mandich, Paola; Bellone, Emilia | |
A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS | 1-gen-2024 | Geroldi, A; Mammi, A; Gaudio, A; Patrone, S; La Barbera, A; Origone, P; Ponti, C; Sanguineri, F; Massucco, S; Marinelli, L; Grandis, M; Schenone, A; Mandich, P; Bellone, E; Gotta, F | |
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia | 1-gen-2022 | Gemelli, C.; Traverso, M.; Trevisan, L.; Fabbri, S.; Scarsi, E.; Carlini, B.; Prada, V.; Mongini, T.; Ruggiero, L.; Patrone, S.; Gallone, S.; Iodice, R.; Pisciotta, L.; Zara, F.; Origone, P.; Rota, E.; Minetti, C.; Bruno, C.; Schenone, A.; Mandich, P.; Fiorillo, C.; Grandis, M.; Pisciotta, Livia | |
Case report: Episodic ataxia without ataxia? | 1-gen-2023 | Gaudio, Andrea; Gotta, Fabio; Ponti, Clarissa; Sanguineri, Francesca; Trevisan, Lucia; Geroldi, Alessandro; Patrone, Serena; Gemelli, Chiara; Cabona, Corrado; Astrea, Guja; Fiorillo, Chiara; Gustincich, Stefano; Grandis, Marina; Mandich, Paola | |
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement | 1-gen-2024 | Geroldi, Alessandro; Ponti, Clarissa; Mammi, Alessia; Patrone, Serena; Gotta, Fabio; Trevisan, Lucia; Sanguineri, Francesca; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Cataldi, Matteo; Gemelli, Chiara; Massucco, Sara; Schenone, Angelo; Lanteri, Paola; Fiorillo, Chiara; Grandis, Marina; Mandich, Paola; Bellone, Emilia | |
Genetic Workup for Charcot–Marie–Tooth Neuropathy: A Retrospective Single-Site Experience Covering 15 Years | 1-gen-2022 | Gemelli, C.; Geroldi, A.; Massucco, S.; Trevisan, L.; Callegari, I.; Marinelli, L.; Ursino, G.; Hamedani, M.; Mennella, G.; Stara, S.; Maggi, G.; Mori, L.; Schenone, C.; Gotta, F.; Patrone, S.; Mammi, A.; Origone, P.; Prada, V.; Nobbio, L.; Mandich, P.; Schenone, A.; Bellone, E.; Grandis, M. | |
How many mutations does it take to make a uveal melanoma? | 1-gen-2019 | Piaggio, Francesca; Tozzo, Veronica; Bernardi, Cinzia; Croce, Michela; LO SICCO, Claudia; Gangemi, Rosaria; Puzone, Roberto; Viaggi, Silvia; Patrone, Serena; Barla, Annalisa; Coviello, Domenico; Jager, Martine J.; van der Velden, Pieter A.; Cangelosi, Davide; Eva, Alessandra; Ferrini, Silvano; Pfeffer, Ulrich; Amaro, ADRIANA AGNESE | |
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation | 1-gen-2024 | Geroldi, Alessandro; Mammi, Alessia; Gaudio, Andrea; Patrone, Serena; La Barbera, Andrea; Origone, Paola; Ponti, Clarissa; Sanguineri, Francesca; Massucco, Sara; Marinelli, Lucio; Grandis, Marina; Schenone, Angelo; Mandich, Paola; Bellone, Emilia; Gotta, Fabio | |
Prognostic value of chromosomal imbalances, gene mutations, and BAP1 expression in uveal melanoma | 1-gen-2018 | Patrone, Serena; Maric, Irena; Rutigliani, Mariangela; Lanza, Francesco; Puntoni, Matteo; Banelli, Barbara; Rancati, Silvia; Angelini, Giovanna; Amaro, Adriana; Ligorio, Paolo; Defferrari, Carlotta; Castagnetta, Mauro; Bandelloni, Roberto; Mosci, Carlo; Decensi, Andrea; Romani, Massimo; Pfeffer, Urlich; Viaggi, Silvia; Coviello, Domenico A | |
Prognostic value of specific chromosome imbalances, mutation profile, and BAP1 expression in uveal melanoma | 21-mag-2018 | Patrone, Serena | |
ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT | 1-gen-2023 | La Barbera, A; Geroldi, A; Origone, P; Patrone, S; Mammi, A; Gaudio, A; Gotta, F; Ponti, C; Sanguineri, F; Gemelli, C; Massucco, S; Marinelli, L; Grandis, M; Schenone, A; Mandich, P; Bellone, E | |
Secondary Somatic Mutations in G-Protein-Related Pathways and Mutation Signatures in Uveal Melanoma | 1-gen-2019 | Piaggio, Francesca; Tozzo, Veronica; Bernardi, Cinzia; Croce, Michela; Puzone, Roberto; Viaggi, Silvia; Patrone, Serena; Barla, Annalisa; Coviello, Domenico; J. Jager, Martine; van der Velden, Pieter A.; Zeschnigk, Michael; Cangelosi, Davide; Eva, Alessandra; Pfeffer, Ulrich; Amaro, Adriana | |
Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature | 1-gen-2023 | Massucco, Sara; Gemelli, Chiara; Bellone, Emilia; Geroldi, Alessandro; Patrone, Serena; Mandich, Paola; Scarsi, Elena; Faedo, Elena; Marinelli, Lucio; Mongini, Tiziana; Traverso, Monica; Baratto, Serena; Schenone, Angelo; Fiorillo, Chiara; Grandis, Marina |