NOBILE, CARLO
NOBILE, CARLO
Istituto di Neuroscienze - IN -
A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features
2024 Bonanni, Paolo; Giorda, Roberto; Michelucci, Roberto; Nobile, Carlo; Dazzo, Emanuela
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture
2023 Harris, R. V.; Oliver, K. L.; Perucca, P.; Striano, P.; Labate, A.; Riva, A.; Grinton, B. E.; Reid, J.; Hutton, J.; Todaro, M.; O'Brien, T. J.; Kwan, P.; Sadleir, L. G.; Mullen, S. A.; Dazzo, E.; Crompton, D. E.; Scheffer, I. E.; Bahlo, M.; Nobile, C.; Gambardella, A.; Berkovic, S. F.
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins
2022 Dazzo, E.; Nobile, C.
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy
2020 Scala M.; Bianchi A.; Bisulli F.; Coppola A.; Elia M.; Trivisano M.; Pruna D.; Pippucci T.; Canafoglia L.; Lattanzi S.; Franceschetti S.; Nobile C.; Gambardella A.; Michelucci R.; Zara F.; Striano P.
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation
2020 Michelucci, R; Dazzo, E; Volpi, L; Pasini, E; Riguzzi, P; Minardi, R; Marliani, Af; Tappata, M; Bisulli, F; Tassinari, Ca; Nobile, C
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features
2018 Leonardi E.; Dazzo E.; Aspromonte M.C.; Tabaro F.; Pascarelli S.; Tosatto S.C.E.; Michelucci R.; Murgia A.; Nobile C.
LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma
2018 Dazzo, E; Pasini, E; Furlan, S; de Biase, D; Martinoni, M; Michelucci, R; Nobile, C
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy
2018 Dazzo E.; Rehberg K.; Michelucci R.; Passarelli D.; Boniver C.; Vianello Dri V.; Striano P.; Striano S.; Pasterkamp R.J.; Nobile C.
The genetic basis of juvenile myoclonic epilepsy
2018 Striano P.; Nobile C.
Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy
2018 Striano, P; Nobile, C
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations
2017 Michelucci, R; Pulitano, P; Di Bonaventura, C; Binelli, S; Luisi, C; Pasini, E; Striano, S; Striano, P; Coppola, G; La Neve, A; Giallonardo, At; Mecarelli, O; Serioli, E; Dazzo, E; Fanciulli, M; Nobile, C
In response: DEPDC5 mutations in epilepsy with auditory features
2016 Striano, Pasquale; Michelucci, Roberto; Striano, Salvatore; Nobile, Carlo
Psychiatric features in autosomal dominant lateral temporal epilepsy associated with LGI1 mutations
2016 Santulli, L.;Caccavale, C.; Errichiello, L.; Striano, P.; de Falco, F.A.; de Falco, A.; Nobile, C.; Striano, S.
Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors
2016 Dazzo, E; Leonardi, E; Belluzzi, E; Malacrida, S; Vitiello, L; Greggio, E; Tosatto, Sce; Nobile, C
Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras
2015 Dazzo, E; Santulli, L; Posar, A; Fattouch, J; Conti, S; Lodenvan Straaten, M; Mijalkovic, J; De Bortoli, M; Rosa, M; Millino, C; Pacchioni, B; Di Bonaventura, C; Giallonardo, At; Striano, S; Striano, P; Parmeggiani, A; Nobile, C
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy
2015 Striano, P; Serioli, E; Santulli, L; Manna, I; Labate, A; Dazzo, E; Pasini, E; Gambardella, A; Michelucci, R; Striano, S; Nobile, C
Galanin pathogenic mutations in temporal lobe epilepsy
2015 Guipponi, M.; Chentouf, A.; Webling, K.E.; Freimann, K.; Crespel, A.; Nobile, C.; Lemke, J.R.; Hansen, J.; Dorn, T.; Lesca, G.; Ryvlin, P.; Hirsch, E.; Rudolf, G.; Rosenberg, D.S.; Weber, Y.; Becker, F.; Helbig, I.; Muhle, H.; Salzmann, A.; Chaouch, M.; Oubaiche, M.L.; Ziglio, S.; Gehrig, C.; Santoni, F.; Pizzato, M.; Langel, U.; Antonarakis, S.E
Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy
2015 Dazzo, E.; Fanciulli, M.; Serioli, E.; Minervini, G.; Pulitano, P.; Binelli, S.; Di Bonaventura, C.; Luisi, C.; Pasini, E.; Striano, S.; Striano, P.; Coppola, G.; Chiavegato, A.; Radovic, S.; Spadotto, A.; Uzzau, S.; La Neve, A.; Giallonardo, A.T.; Mecarelli, O.; Tosatto, S.C.; Ottman, R.; Michelucci, R.; Nobile, C
LGI1 dysfunction in inherited and acquired epileptic disorders
2015 Nobile, C
Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees
2014 Fanciulli, Manuela; Pasini, Elena; Malacrida, Sandro; Striano, Pasquale; Striano, Salvatore; Michelucci, Roberto; Ottman, Ruth; Nobile, Carlo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features | 1-gen-2024 | Bonanni, Paolo; Giorda, Roberto; Michelucci, Roberto; Nobile, Carlo; Dazzo, Emanuela | |
| Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture | 1-gen-2023 | Harris, R. V.; Oliver, K. L.; Perucca, P.; Striano, P.; Labate, A.; Riva, A.; Grinton, B. E.; Reid, J.; Hutton, J.; Todaro, M.; O'Brien, T. J.; Kwan, P.; Sadleir, L. G.; Mullen, S. A.; Dazzo, E.; Crompton, D. E.; Scheffer, I. E.; Bahlo, M.; Nobile, C.; Gambardella, A.; Berkovic, S. F. | |
| Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins | 1-gen-2022 | Dazzo, E.; Nobile, C. | |
| Advances in genetic testing and optimization of clinical management in children and adults with epilepsy | 1-gen-2020 | Scala M.; Bianchi A.; Bisulli F.; Coppola A.; Elia M.; Trivisano M.; Pruna D.; Pippucci T.; Canafoglia L.; Lattanzi S.; Franceschetti S.; Nobile C.; Gambardella A.; Michelucci R.; Zara F.; Striano P. | |
| Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation | 1-gen-2020 | Michelucci, R; Dazzo, E; Volpi, L; Pasini, E; Riguzzi, P; Minardi, R; Marliani, Af; Tappata, M; Bisulli, F; Tassinari, Ca; Nobile, C | |
| CNTNAP2 mutations and autosomal dominant epilepsy with auditory features | 1-gen-2018 | Leonardi E.; Dazzo E.; Aspromonte M.C.; Tabaro F.; Pascarelli S.; Tosatto S.C.E.; Michelucci R.; Murgia A.; Nobile C. | |
| LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma | 1-gen-2018 | Dazzo, E; Pasini, E; Furlan, S; de Biase, D; Martinoni, M; Michelucci, R; Nobile, C | |
| Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy | 1-gen-2018 | Dazzo E.; Rehberg K.; Michelucci R.; Passarelli D.; Boniver C.; Vianello Dri V.; Striano P.; Striano S.; Pasterkamp R.J.; Nobile C. | |
| The genetic basis of juvenile myoclonic epilepsy | 1-gen-2018 | Striano P.; Nobile C. | |
| Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy | 1-gen-2018 | Striano, P; Nobile, C | |
| The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations | 1-gen-2017 | Michelucci, R; Pulitano, P; Di Bonaventura, C; Binelli, S; Luisi, C; Pasini, E; Striano, S; Striano, P; Coppola, G; La Neve, A; Giallonardo, At; Mecarelli, O; Serioli, E; Dazzo, E; Fanciulli, M; Nobile, C | |
| In response: DEPDC5 mutations in epilepsy with auditory features | 1-gen-2016 | Striano, Pasquale; Michelucci, Roberto; Striano, Salvatore; Nobile, Carlo | |
| Psychiatric features in autosomal dominant lateral temporal epilepsy associated with LGI1 mutations | 1-gen-2016 | Santulli, L.;Caccavale, C.; Errichiello, L.; Striano, P.; de Falco, F.A.; de Falco, A.; Nobile, C.; Striano, S. | |
| Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors | 1-gen-2016 | Dazzo, E; Leonardi, E; Belluzzi, E; Malacrida, S; Vitiello, L; Greggio, E; Tosatto, Sce; Nobile, C | |
| Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras | 1-gen-2015 | Dazzo, E; Santulli, L; Posar, A; Fattouch, J; Conti, S; Lodenvan Straaten, M; Mijalkovic, J; De Bortoli, M; Rosa, M; Millino, C; Pacchioni, B; Di Bonaventura, C; Giallonardo, At; Striano, S; Striano, P; Parmeggiani, A; Nobile, C | |
| DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy | 1-gen-2015 | Striano, P; Serioli, E; Santulli, L; Manna, I; Labate, A; Dazzo, E; Pasini, E; Gambardella, A; Michelucci, R; Striano, S; Nobile, C | |
| Galanin pathogenic mutations in temporal lobe epilepsy | 1-gen-2015 | Guipponi, M.; Chentouf, A.; Webling, K.E.; Freimann, K.; Crespel, A.; Nobile, C.; Lemke, J.R.; Hansen, J.; Dorn, T.; Lesca, G.; Ryvlin, P.; Hirsch, E.; Rudolf, G.; Rosenberg, D.S.; Weber, Y.; Becker, F.; Helbig, I.; Muhle, H.; Salzmann, A.; Chaouch, M.; Oubaiche, M.L.; Ziglio, S.; Gehrig, C.; Santoni, F.; Pizzato, M.; Langel, U.; Antonarakis, S.E | |
| Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy | 1-gen-2015 | Dazzo, E.; Fanciulli, M.; Serioli, E.; Minervini, G.; Pulitano, P.; Binelli, S.; Di Bonaventura, C.; Luisi, C.; Pasini, E.; Striano, S.; Striano, P.; Coppola, G.; Chiavegato, A.; Radovic, S.; Spadotto, A.; Uzzau, S.; La Neve, A.; Giallonardo, A.T.; Mecarelli, O.; Tosatto, S.C.; Ottman, R.; Michelucci, R.; Nobile, C | |
| LGI1 dysfunction in inherited and acquired epileptic disorders | 1-gen-2015 | Nobile, C | |
| Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees | 1-gen-2014 | Fanciulli, Manuela; Pasini, Elena; Malacrida, Sandro; Striano, Pasquale; Striano, Salvatore; Michelucci, Roberto; Ottman, Ruth; Nobile, Carlo |