UNGARO, CARMINE
UNGARO, CARMINE
Istituto sull'Inquinamento Atmosferico - IIA
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis
2020 Ungaro Carmine; Sprovieri Teresa; Morello Giovanna; Perrone Benedetta; Spampinato Antonio Gianmaria; Simone Isabella Laura; Trojsi Francesca; Monsurrò Maria Rosaria; Spataro Rossella; La Bella Vincenzo; Andò Sebastiano; Cavallaro Sebastiano; Conforti Francesca Luisa;
A novel S379A TARDBP mutation associated to late-onset sporadic ALS
2019 Sprovieri, Teresa; Ungaro, Carmine; Perrone, Benedetta; Naimo, Giuseppina Daniela; Spataro, Rossella; Cavallaro, Sebastiano; La Bella, Vincenzo; Conforti, Francesca Luisa
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy
2019 Daniela Naimo, Giuseppina; Guarnaccia, Maria; Sprovieri, Teresa; Ungaro, Carmine; Luisa Conforti, Francesca; Andò, Sebastiano; Cavallaro, Sebastiano
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies
2019 Perrone, Benedetta; LA COGNATA, Valentina; Sprovieri, Teresa; Ungaro, Carmine; Luisa Conforti, Francesca; Andò, Sebastiano; Cavallaro, Sebastiano
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
2019 Ungaro, Carmine; Sprovieri, Teresa
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report
2019 Sprovieri, Teresa; Ungaro, Carmine; Sivo, Serena; Quintiliani, Michela; Contaldo, Laria; Veredice, Chiara; Citrigno, Luigi; Muglia, Maria; Cavalcanti, Francesca; Cavallaro, Sebastiano; Maria Mercuri, Eugenio; Battaglia, Domenica
ALS and CHARGE syndrome: a clinical and genetic study
2018 Ungaro, Carmine; Citrigno, Luigi; Trojsi, Francesca; Sprovieri, Teresa; Gentile, Giulia; Muglia, Maria; Monsurro Maria, Rosaria; Tedeschi, Gioacchino; Cavallaro, Sebastiano; Conforti, FRANCESCA LUISA
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy
2018 Sprovieri, T; Ungaro, C; Battaglia, D; Sivo, S; Musto, E; Quintiliani, M; Contaldo, I; Citrigno, L; Muglia, M; Cavalcanti, F
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach
2018 Citrigno, L; Cavalcanti, F; Sprovieri, T; Ungaro, C; Ascoli, M; Aguglia, U
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations?
2018 Ungaro, Carmine; Mazzei, Rosalucia; Sprovieri, Teresa
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case.
2018 Ungaro, C; Valentini, S; Cerasa, A; Lanza, Pl; Mazzei, R
Notch3 protein expression in skin fibroblasts from CADASIL patients
2018 Qualtieri, Antonio; Ungaro, Carmine; Bagalà, Angelo; Bianchi, Silvia; Pantoni, Leonardo; Moccia, Marcello; Mazzei, Rosalucia
The spectrum of ROBO3 mutations in Horizontal Gaze Palsy With Progressive Scoliosis: an update
2018 Ungaro, Carmine; Mazzei, Rosalucia; Cavallaro, Sebastiano; Sprovieri, Teresa
CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy.
2017 Ungaro, C; Citrigno, L; Gentile, G; Patitucci, A; Magariello, A; Muglia, M; Cavallaro, S; Trojsi, F; Conforti, F L
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia.
2013 Magariello A; Tortorella C; Patitucci A; Tortelli R; Liguori M; Mazzei R; Conforti FL; Citrigno L; Ungaro C; Simone IL; Muglia M.
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia
2012 A. Magariello; C. Tortorella; A. Patitucci; R. Tortelli; M. Liguori; R. Mazzei; F. L. Conforti; L. Citrigno; C. Ungaro; I. L. Simone; M. Muglia
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis.
2012 Sproviero W; La Bella V; Mazzei R; Valentino P; Rodolico C; Simone IL; Logroscino G; Ungaro C; Magariello A; Patitucci A; Tedeschi G; Spataro R; Condino F; Bono F; Citrigno L; Monsurrò MR; Muglia M; Gambardella A; Quattrone A; Conforti FL.
SMN1 gene copy number analyses for SMA healthy carriers in Italian population
2012 Patitucci, Alessandra; Magariello, Angela; Ungaro, Carmine; Muglia, Maria; L Conforti, Francesca; L Gabriele, Anna; Citrigno, Luigi; Sproviero, William; Mazzei, Rosalucia
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia.
2012 Magariello, A; Tortorella, C; Citrigno, L; Patitucci, A; Tortelli, R; Mazzei, R; Conforti, Fl; Ungaro, C; Sproviero, W; Gambardella, A; Muglia, M
A NOVEL MUTATION IN CX32 IDENTIFIED IN A PATIENT WITH DEMYELINATING SENSORY-MOTOR NEUROPATHY AND SECONDARY AXONOPATHY
2011 A. Patitucci; C. Tortorella; M. Liguori; A. Magariello; R. Mazzei; FL. Conforti; W. Sproviero; L. Citrigno; A. Morabito; C. Ungaro; A. Gambardella;M. Muglia
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Genetic investigation of amyotrophic lateral sclerosis patients in south Italy: a two-decade analysis | 1-gen-2020 | Ungaro Carmine; Sprovieri Teresa; Morello Giovanna; Perrone Benedetta; Spampinato Antonio Gianmaria; Simone Isabella Laura; Trojsi Francesca; Monsurrò Maria Rosaria; Spataro Rossella; La Bella Vincenzo; Andò Sebastiano; Cavallaro Sebastiano; Conforti Francesca Luisa; | |
A novel S379A TARDBP mutation associated to late-onset sporadic ALS | 1-gen-2019 | Sprovieri, Teresa; Ungaro, Carmine; Perrone, Benedetta; Naimo, Giuseppina Daniela; Spataro, Rossella; Cavallaro, Sebastiano; La Bella, Vincenzo; Conforti, Francesca Luisa | |
A Systems Biology Approach for Personalized Medicine in Refractory Epilepsy | 1-gen-2019 | Daniela Naimo, Giuseppina; Guarnaccia, Maria; Sprovieri, Teresa; Ungaro, Carmine; Luisa Conforti, Francesca; Andò, Sebastiano; Cavallaro, Sebastiano | |
Alternative Splicing of ALS Genes: Misregulation and Potential Therapies | 1-gen-2019 | Perrone, Benedetta; LA COGNATA, Valentina; Sprovieri, Teresa; Ungaro, Carmine; Luisa Conforti, Francesca; Andò, Sebastiano; Cavallaro, Sebastiano | |
Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) | 1-gen-2019 | Ungaro, Carmine; Sprovieri, Teresa | |
Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report | 1-gen-2019 | Sprovieri, Teresa; Ungaro, Carmine; Sivo, Serena; Quintiliani, Michela; Contaldo, Laria; Veredice, Chiara; Citrigno, Luigi; Muglia, Maria; Cavalcanti, Francesca; Cavallaro, Sebastiano; Maria Mercuri, Eugenio; Battaglia, Domenica | |
ALS and CHARGE syndrome: a clinical and genetic study | 1-gen-2018 | Ungaro, Carmine; Citrigno, Luigi; Trojsi, Francesca; Sprovieri, Teresa; Gentile, Giulia; Muglia, Maria; Monsurro Maria, Rosaria; Tedeschi, Gioacchino; Cavallaro, Sebastiano; Conforti, FRANCESCA LUISA | |
Clinical features and genetic analysis of two siblings with Startle disease in a family of South Italy | 1-gen-2018 | Sprovieri, T; Ungaro, C; Battaglia, D; Sivo, S; Musto, E; Quintiliani, M; Contaldo, I; Citrigno, L; Muglia, M; Cavalcanti, F | |
Discovery novel variations in Sleep-related Hypermotor Epilepsy (SHE) using Next Generation Sequencing approach | 1-gen-2018 | Citrigno, L; Cavalcanti, F; Sprovieri, T; Ungaro, C; Ascoli, M; Aguglia, U | |
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? | 1-gen-2018 | Ungaro, Carmine; Mazzei, Rosalucia; Sprovieri, Teresa | |
Horizontal Gaze Palsy With Progressive Scoliosis: Two Novel ROBO3 Mutations in a Compound Heterozygous Sporadic Case. | 1-gen-2018 | Ungaro, C; Valentini, S; Cerasa, A; Lanza, Pl; Mazzei, R | |
Notch3 protein expression in skin fibroblasts from CADASIL patients | 1-gen-2018 | Qualtieri, Antonio; Ungaro, Carmine; Bagalà, Angelo; Bianchi, Silvia; Pantoni, Leonardo; Moccia, Marcello; Mazzei, Rosalucia | |
The spectrum of ROBO3 mutations in Horizontal Gaze Palsy With Progressive Scoliosis: an update | 1-gen-2018 | Ungaro, Carmine; Mazzei, Rosalucia; Cavallaro, Sebastiano; Sprovieri, Teresa | |
CHARGE syndrome and ALS: a clinical and genetic study of a family from Southern Italy. | 1-gen-2017 | Ungaro, C; Citrigno, L; Gentile, G; Patitucci, A; Magariello, A; Muglia, M; Cavallaro, S; Trojsi, F; Conforti, F L | |
First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. | 1-gen-2013 | Magariello A; Tortorella C; Patitucci A; Tortelli R; Liguori M; Mazzei R; Conforti FL; Citrigno L; Ungaro C; Simone IL; Muglia M. | |
A novel missense mutation (p.Arg309His) in the nuclear localization signal sequence of spastin protein causes a complicated form of Hereditary Spastic Paraplegia | 1-gen-2012 | A. Magariello; C. Tortorella; A. Patitucci; R. Tortelli; M. Liguori; R. Mazzei; F. L. Conforti; L. Citrigno; C. Ungaro; I. L. Simone; M. Muglia | |
FUS mutations in sporadic amyotrophic lateral sclerosis: clinical and genetic analysis. | 1-gen-2012 | Sproviero W; La Bella V; Mazzei R; Valentino P; Rodolico C; Simone IL; Logroscino G; Ungaro C; Magariello A; Patitucci A; Tedeschi G; Spataro R; Condino F; Bono F; Citrigno L; Monsurrò MR; Muglia M; Gambardella A; Quattrone A; Conforti FL. | |
SMN1 gene copy number analyses for SMA healthy carriers in Italian population | 1-gen-2012 | Patitucci, Alessandra; Magariello, Angela; Ungaro, Carmine; Muglia, Maria; L Conforti, Francesca; L Gabriele, Anna; Citrigno, Luigi; Sproviero, William; Mazzei, Rosalucia | |
The p.Arg416Cys mutation in SPG3a gene associated with a pure form of spastic paraplegia. | 1-gen-2012 | Magariello, A; Tortorella, C; Citrigno, L; Patitucci, A; Tortelli, R; Mazzei, R; Conforti, Fl; Ungaro, C; Sproviero, W; Gambardella, A; Muglia, M | |
A NOVEL MUTATION IN CX32 IDENTIFIED IN A PATIENT WITH DEMYELINATING SENSORY-MOTOR NEUROPATHY AND SECONDARY AXONOPATHY | 1-gen-2011 | A. Patitucci; C. Tortorella; M. Liguori; A. Magariello; R. Mazzei; FL. Conforti; W. Sproviero; L. Citrigno; A. Morabito; C. Ungaro; A. Gambardella;M. Muglia |