PINELLI, MICHELE
PINELLI, MICHELE
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins
2021-01-01 Salian, S.; Scala, M.; Nguyen, T. T. M.; Severino, M.; Accogli, A.; Amadori, E.; Torella, A.; Pinelli, M.; Hudson, B.; Boothe, M.; Hurst, A.; Ben-Omran, T.; Larsen, M. J.; Fagerberg, C. R.; Sperling, L.; Miceikaite, I.; Herissant, L.; Doco-Fenzy, M.; Jennesson, M.; Nigro, V.; Striano, P.; Minetti, C.; Sachdev, R. K.; Palmer, E. E.; Capra, V.; Campeau, P. M.
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
2019-01-01 Scala, Marcello; Torella, Annalaura; Severino, Mariasavina; Morana, Giovanni; Castello, Raffaele; Accogli, Andrea; Verrico, Antonio; Vari, Maria Stella; Cappuccio, Gerarda; Pinelli, Michele; Vitiello, Giuseppina; Terrone, Gaetano; D'Amico, Alessandra; Nigro, Vincenzo; Capra, Valeria
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
2022-01-01 Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Gabau Vila, Elisabeth; Mak, Bryan C; Martinez-Agosto, Julian A; Gorin, Michael B; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia M B; Vengoechea, Jaime E; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale; Nigro, Vincenzo; Severino, Mariasavina; Capra, Valeria; Costain, Gregory; Nagata, Koh Ichi
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI-anchored proteins | 1-gen-2021 | Salian, S.; Scala, M.; Nguyen, T. T. M.; Severino, M.; Accogli, A.; Amadori, E.; Torella, A.; Pinelli, M.; Hudson, B.; Boothe, M.; Hurst, A.; Ben-Omran, T.; Larsen, M. J.; Fagerberg, C. R.; Sperling, L.; Miceikaite, I.; Herissant, L.; Doco-Fenzy, M.; Jennesson, M.; Nigro, V.; Striano, P.; Minetti, C.; Sachdev, R. K.; Palmer, E. E.; Capra, V.; Campeau, P. M. | |
| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females | 1-gen-2019 | Scala, Marcello; Torella, Annalaura; Severino, Mariasavina; Morana, Giovanni; Castello, Raffaele; Accogli, Andrea; Verrico, Antonio; Vari, Maria Stella; Cappuccio, Gerarda; Pinelli, Michele; Vitiello, Giuseppina; Terrone, Gaetano; D'Amico, Alessandra; Nigro, Vincenzo; Capra, Valeria | |
| Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes | 1-gen-2022 | Scala, Marcello; Nishikawa, Masashi; Ito, Hidenori; Tabata, Hidenori; Khan, Tayyaba; Accogli, Andrea; Davids, Laura; Ruiz, Anna; Chiurazzi, Pietro; Cericola, Gabriella; Schulte, Björn; Monaghan, Kristin G; Begtrup, Amber; Torella, Annalaura; Pinelli, Michele; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Racine, Caroline; Mancardi, Maria Margherita; Kiss, Courtney; Guerin, Andrea; Wu, Wendy; Gabau Vila, Elisabeth; Mak, Bryan C; Martinez-Agosto, Julian A; Gorin, Michael B; Duz, Bugrahan; Bayram, Yavuz; Carvalho, Claudia M B; Vengoechea, Jaime E; Chitayat, David; Tan, Tiong Yang; Callewaert, Bert; Kruse, Bernd; Bird, Lynne M; Faivre, Laurence; Zollino, Marcella; Biskup, Saskia; Striano, Pasquale; Nigro, Vincenzo; Severino, Mariasavina; Capra, Valeria; Costain, Gregory; Nagata, Koh Ichi |