Sfoglia per Autore
Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations
2020-01-01 Villa, R.; Fergnani, V. G. C.; Silipigni, R.; Guerneri, S.; Cinnante, C.; Guala, A.; Danesino, C.; Scola, E.; Conte, G.; Fumagalli, M.; Gangi, S.; Colombo, L.; Picciolini, O.; Ajmone, P. F.; Accogli, A.; Madia, F.; Tassano, E.; Scala, M.; Capra, V; Srour, M.; Spaccini, L.; Righini, A.; Greco, D.; Castiglia, L.; Romano, C.; Bedeschi, M. F.
Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome
2020-01-01 Fiaschi, P.; Scala, M.; Piatelli, G.; Tortora, D.; Secci, F.; Cama, A.; Pavanello, M.
Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report"
2020-01-01 Balestrino, A.; Scala, M.; Fiaschi, P.; Piatelli, G.; Pavanello, M.
Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy
2020-01-01 Tortora, Domenico; Scavetta, Camilla; Rebella, Giacomo; Bertamino, Marta; Scala, Marcello; Giacomini, Thea; Morana, Giovanni; Pavanello, Marco; Rossi, Andrea; Severino, Mariasavina
Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy
2020-01-01 Carvill, G. L.; Helbig, K. L.; Myers, C. T.; Scala, M.; Huether, R.; Lewis, S.; Kruer, T. N.; Guida, B. S.; Bakhtiari, S.; Sebe, J.; Tang, S.; Stickney, H.; Oktay, S. U.; Bhandiwad, A. A.; Ramsey, K.; Narayanan, V.; Feyma, T.; Rohena, L. O.; Accogli, A.; Severino, M.; Hollingsworth, G.; Gill, D.; Depienne, C.; Nava, C.; Sadleir, L. G.; Caruso, P. A.; Lin, A. E.; Jansen, F. E.; Koeleman, B.; Brilstra, E.; Willemsen, M. H.; Kleefstra, T.; Sa, J.; Mathieu, M. -L.; Perrin, L.; Lesca, G.; Striano, P.; Casari, G.; Scheffer, I. E.; Raible, D.; Sattlegger, E.; Capra, V.; Padilla-Lopez, S.; Mefford, H. C.; Kruer, M. C.
Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development
2020-01-01 Iacomino, Michele; Baldassari, Simona; Tochigi, Yuki; Kośla, Katarzyna; Buffelli, Francesca; Torella, Annalaura; Severino, Mariasavina; Paladini, Dario; Mandarà, Luana; Riva, Antonella; Scala, Marcello; Balagura, Ganna; Accogli, Andrea; Nigro, Vincenzo; Minetti, Carlo; Fulcheri, Ezio; Zara, Federico; K Bednarek, Andrzej; Striano, Pasquale; Suzuki, Hiroetsu; SALPIETRO DAMIANO, Vincenzo
RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
2020-01-01 Scala, M.; Mojarrad, M.; Riazuddin, S.; Brigatti, K. W.; Ammous, Z.; Cohen, J. S.; Hosny, H.; Usmani, M. A.; Shahzad, M.; Riazuddin, S.; Stanley, V.; Eslahi, A.; Person, R. E.; Elbendary, H. M.; Comi, A. M.; Poskitt, L.; SALPIETRO DAMIANO, Vincenzo; Genomics, Q. S.; Rosenfeld, J. A.; Williams, K. B.; Marafi, D.; Xia, F.; Waberski, M. B.; Zaki, M. S.; Gleeson, J.; Puffenberger, E.; Houlden, H.; Maroofian, R.
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features
2020-01-01 Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Chiara Manzini, M; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza; Silver, David L
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis
2020-01-01 Azad, B.; Efthymiou, S.; Sultan, T.; Scala, M.; Alvi, J. R.; Neuray, C.; Dominik, N.; Gul, A.; Houlden, H.
Precision medicine in early-onset epilepsy: The KCNQ2 paradigm
2020-01-01 Amadori, E.; Brolatti, N.; Scala, M.; Marchese, F.; Vari, M. S.; Ramenghi, L. A.; Madia, F.; Minetti, C.; Striano, P.
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity
2020-01-01 Serey-Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande-Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel
Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder
2020-01-01 Accogli, Andrea; Scala, Marcello; Pavanello, Marco; Severino, Mariasavina; Gandolfo, Carlo; De Marco, Patrizia; Musacchia, Francesco; Torella, Annalaura; Pinelli, Michele; Nigro, Vincenzo; Capra, Valeria
Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review
2020-01-01 Scala, M.; Fiaschi, P.; Cama, A.; Consales, A.; Piatelli, G.; Giannelli, F.; Barra, S.; Satragno, C.; Pacetti, M.; Secci, F.; Tortora, D.; Garre, M. L.; Pavanello, M.
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project
2020-01-01 Amadori, E.; Scala, M.; Cereda, G. S.; Vari, M. S.; Marchese, F.; Di Pisa, V.; Mancardi, M. M.; Giacomini, T.; Siri, L.; Vercellino, F.; Serino, D.; Orsini, A.; Bonuccelli, A.; Bagnasco, I.; Papa, A.; Minetti, C.; Cordelli, D. M.; Striano, P.
Symptomatic eating epilepsy: two novel pediatric patients and review of literature
2021-01-01 Vercellino, F.; Siri, L.; Brisca, G.; Scala, M.; Riva, A.; Severino, M.; Striano, P.
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
2021-01-01 Raviglione, F.; Douzgou, S.; Scala, M.; Mingarelli, A.; D'Arrigo, S.; Freri, E.; Darra, F.; Giglio, S.; Bonaglia, M. C.; Pantaleoni, C.; Mastrangelo, M.; Epifanio, R.; Elia, M.; Saletti, V.; Morlino, S.; Vari, M. S.; De Liso, P.; Pavaine, J.; Spaccini, L.; Cattaneo, E.; Gardella, E.; Moller, R. S.; Marchese, F.; Colonna, C.; Gandioli, C.; Gobbi, G.; Ram, D.; Palumbo, O.; Carella, M.; Germano, M.; Tonduti, D.; De Angelis, D.; Caputo, D.; Bergonzini, P.; Novara, F.; Zuffardi, O.; Verrotti, A.; Orsini, A.; Bonuccelli, A.; De Muto, M. C.; Trivisano, M.; Vigevano, F.; Granata, T.; Bernardina, B. D.; Tranchina, A.; Striano, P.
Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies
2021-01-01 Scala, M.; Nishikawa, M.; Nagata, K. -I.; Striano, P.
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy
2021-01-01 Efthymiou, S.; Dutra-Clarke, M.; Maroofian, R.; Kaiyrzhanov, R.; Scala, M.; Reza Alvi, J.; Sultan, T.; Christoforou, M.; Tuyet Mai Nguyen, T.; Mankad, K.; Vona, B.; Rad, A.; Striano, P.; Salpietro, V.; Guillen Sacoto, M. J.; Zaki, M. S.; Gleeson, J. G.; Campeau, P. M.; Russell, B. E.; Houlden, H.
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
2021-01-01 Scala, M.; Anijs, M.; Battini, R.; Madia, F.; Capra, V.; Scudieri, P.; Verrotti, A.; Zara, F.; Minetti, C.; Vernes, S. C.; Striano, P.
Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy
2021-01-01 Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations | 1-gen-2020 | Villa, R.; Fergnani, V. G. C.; Silipigni, R.; Guerneri, S.; Cinnante, C.; Guala, A.; Danesino, C.; Scola, E.; Conte, G.; Fumagalli, M.; Gangi, S.; Colombo, L.; Picciolini, O.; Ajmone, P. F.; Accogli, A.; Madia, F.; Tassano, E.; Scala, M.; Capra, V; Srour, M.; Spaccini, L.; Righini, A.; Greco, D.; Castiglia, L.; Romano, C.; Bedeschi, M. F. | |
| Limits and pitfalls of indirect revascularization in moyamoya disease and syndrome | 1-gen-2020 | Fiaschi, P.; Scala, M.; Piatelli, G.; Tortora, D.; Secci, F.; Cama, A.; Pavanello, M. | |
| Letter to the Editor Regarding "Primary Aneurysmal Bone Cyst of the Thoracic Spine: A Pediatric Case Report" | 1-gen-2020 | Balestrino, A.; Scala, M.; Fiaschi, P.; Piatelli, G.; Pavanello, M. | |
| Spatial coefficient of variation applied to arterial spin labeling MRI may contribute to predict surgical revascularization outcomes in pediatric moyamoya vasculopathy | 1-gen-2020 | Tortora, Domenico; Scavetta, Camilla; Rebella, Giacomo; Bertamino, Marta; Scala, Marcello; Giacomini, Thea; Morana, Giovanni; Pavanello, Marco; Rossi, Andrea; Severino, Mariasavina | |
| Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy | 1-gen-2020 | Carvill, G. L.; Helbig, K. L.; Myers, C. T.; Scala, M.; Huether, R.; Lewis, S.; Kruer, T. N.; Guida, B. S.; Bakhtiari, S.; Sebe, J.; Tang, S.; Stickney, H.; Oktay, S. U.; Bhandiwad, A. A.; Ramsey, K.; Narayanan, V.; Feyma, T.; Rohena, L. O.; Accogli, A.; Severino, M.; Hollingsworth, G.; Gill, D.; Depienne, C.; Nava, C.; Sadleir, L. G.; Caruso, P. A.; Lin, A. E.; Jansen, F. E.; Koeleman, B.; Brilstra, E.; Willemsen, M. H.; Kleefstra, T.; Sa, J.; Mathieu, M. -L.; Perrin, L.; Lesca, G.; Striano, P.; Casari, G.; Scheffer, I. E.; Raible, D.; Sattlegger, E.; Capra, V.; Padilla-Lopez, S.; Mefford, H. C.; Kruer, M. C. | |
| Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development | 1-gen-2020 | Iacomino, Michele; Baldassari, Simona; Tochigi, Yuki; Kośla, Katarzyna; Buffelli, Francesca; Torella, Annalaura; Severino, Mariasavina; Paladini, Dario; Mandarà, Luana; Riva, Antonella; Scala, Marcello; Balagura, Ganna; Accogli, Andrea; Nigro, Vincenzo; Minetti, Carlo; Fulcheri, Ezio; Zara, Federico; K Bednarek, Andrzej; Striano, Pasquale; Suzuki, Hiroetsu; SALPIETRO DAMIANO, Vincenzo | |
| RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability | 1-gen-2020 | Scala, M.; Mojarrad, M.; Riazuddin, S.; Brigatti, K. W.; Ammous, Z.; Cohen, J. S.; Hosny, H.; Usmani, M. A.; Shahzad, M.; Riazuddin, S.; Stanley, V.; Eslahi, A.; Person, R. E.; Elbendary, H. M.; Comi, A. M.; Poskitt, L.; SALPIETRO DAMIANO, Vincenzo; Genomics, Q. S.; Rosenfeld, J. A.; Williams, K. B.; Marafi, D.; Xia, F.; Waberski, M. B.; Zaki, M. S.; Gleeson, J.; Puffenberger, E.; Houlden, H.; Maroofian, R. | |
| Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features | 1-gen-2020 | Scala, Marcello; Chua, Geok Lin; Chin, Cheen Fei; Alsaif, Hessa S; Borovikov, Artem; Riazuddin, Saima; Riazuddin, Sheikh; Chiara Manzini, M; Severino, Mariasavina; Kuk, Alvin; Fan, Hao; Jamshidi, Yalda; Toosi, Mehran Beiraghi; Doosti, Mohammad; Karimiani, Ehsan Ghayoor; Salpietro, Vincenzo; Dadali, Elena; Baydakova, Galina; Konovalov, Fedor; Lozier, Ekaterina; O'Connor, Emer; Sabr, Yasser; Alfaifi, Abdullah; Ashrafzadeh, Farah; Striano, Pasquale; Zara, Federico; Alkuraya, Fowzan S; Houlden, Henry; Maroofian, Reza; Silver, David L | |
| Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis | 1-gen-2020 | Azad, B.; Efthymiou, S.; Sultan, T.; Scala, M.; Alvi, J. R.; Neuray, C.; Dominik, N.; Gul, A.; Houlden, H. | |
| Precision medicine in early-onset epilepsy: The KCNQ2 paradigm | 1-gen-2020 | Amadori, E.; Brolatti, N.; Scala, M.; Marchese, F.; Vari, M. S.; Ramenghi, L. A.; Madia, F.; Minetti, C.; Striano, P. | |
| Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity | 1-gen-2020 | Serey-Gaut, Margaux; Scala, Marcello; Reversade, Bruno; Ruaud, Lyse; Cabrol, Christelle; Musacchia, Francesco; Torella, Annalaura; Accogli, Andrea; Escande-Beillard, Nathalie; Langlais, Jean; Piatelli, Gianluca; Consales, Alessandro; Nigro, Vincenzo; Capra, Valeria; Van Maldergem, Lionel | |
| Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder | 1-gen-2020 | Accogli, Andrea; Scala, Marcello; Pavanello, Marco; Severino, Mariasavina; Gandolfo, Carlo; De Marco, Patrizia; Musacchia, Francesco; Torella, Annalaura; Pinelli, Michele; Nigro, Vincenzo; Capra, Valeria | |
| Radiation-Induced Moyamoya Syndrome in Children with Brain Tumors: Case Series and Literature Review | 1-gen-2020 | Scala, M.; Fiaschi, P.; Cama, A.; Consales, A.; Piatelli, G.; Giannelli, F.; Barra, S.; Satragno, C.; Pacetti, M.; Secci, F.; Tortora, D.; Garre, M. L.; Pavanello, M. | |
| Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: The Italian experience from the 'beyond epilepsy' project | 1-gen-2020 | Amadori, E.; Scala, M.; Cereda, G. S.; Vari, M. S.; Marchese, F.; Di Pisa, V.; Mancardi, M. M.; Giacomini, T.; Siri, L.; Vercellino, F.; Serino, D.; Orsini, A.; Bonuccelli, A.; Bagnasco, I.; Papa, A.; Minetti, C.; Cordelli, D. M.; Striano, P. | |
| Symptomatic eating epilepsy: two novel pediatric patients and review of literature | 1-gen-2021 | Vercellino, F.; Siri, L.; Brisca, G.; Scala, M.; Riva, A.; Severino, M.; Striano, P. | |
| Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study | 1-gen-2021 | Raviglione, F.; Douzgou, S.; Scala, M.; Mingarelli, A.; D'Arrigo, S.; Freri, E.; Darra, F.; Giglio, S.; Bonaglia, M. C.; Pantaleoni, C.; Mastrangelo, M.; Epifanio, R.; Elia, M.; Saletti, V.; Morlino, S.; Vari, M. S.; De Liso, P.; Pavaine, J.; Spaccini, L.; Cattaneo, E.; Gardella, E.; Moller, R. S.; Marchese, F.; Colonna, C.; Gandioli, C.; Gobbi, G.; Ram, D.; Palumbo, O.; Carella, M.; Germano, M.; Tonduti, D.; De Angelis, D.; Caputo, D.; Bergonzini, P.; Novara, F.; Zuffardi, O.; Verrotti, A.; Orsini, A.; Bonuccelli, A.; De Muto, M. C.; Trivisano, M.; Vigevano, F.; Granata, T.; Bernardina, B. D.; Tranchina, A.; Striano, P. | |
| Pathophysiological mechanisms in neurodevelopmental disorders caused by rac GTPases dysregulation: What’s behind neuro-RACopathies | 1-gen-2021 | Scala, M.; Nishikawa, M.; Nagata, K. -I.; Striano, P. | |
| Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy | 1-gen-2021 | Efthymiou, S.; Dutra-Clarke, M.; Maroofian, R.; Kaiyrzhanov, R.; Scala, M.; Reza Alvi, J.; Sultan, T.; Christoforou, M.; Tuyet Mai Nguyen, T.; Mankad, K.; Vona, B.; Rad, A.; Striano, P.; Salpietro, V.; Guillen Sacoto, M. J.; Zaki, M. S.; Gleeson, J. G.; Campeau, P. M.; Russell, B. E.; Houlden, H. | |
| Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants | 1-gen-2021 | Scala, M.; Anijs, M.; Battini, R.; Madia, F.; Capra, V.; Scudieri, P.; Verrotti, A.; Zara, F.; Minetti, C.; Vernes, S. C.; Striano, P. | |
| Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy | 1-gen-2021 | Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo Damiano; Novelli, Giuseppe; De Luca, Chiara; von Stülpnagel, Celina; Kluger, Felicitas; Kluger, Gerhard Josef; Wohlrab, Gabriele Christine; Ramantani, Georgia; Lewis-Smith, David; Thomas, Rhys H; Lai, Ming; Verrotti, Alberto; Striano, Salvatore; Depienne, Christel; Minetti, Carlo; Benfenati, Fabio; Brancati, Francesco; Zara, Federico; Striano, Pasquale |
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