BAGNASCO, IRENE
BAGNASCO, IRENE
100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
2023-01-01 Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 32, 9, (1144-1149), 10.1038/s41431-024-01560-8)
2024-01-01 Paulet, A.; Bennett-Ness, C.; Ageorges, F.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; Piard, J.; Coubes, C.; Lam, W.; Lynch, S. A.; Groeschel, S.; Ramond, F.; Fluss, J.; Fagerberg, C.; Brasch Andersen, C.; Varvagiannis, K.; Kleefstra, T.; Gerard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denomme-Pichon, A. -S.; Vincent-Devulder, A.; Haack, T.; Marsh, J. A.; Laulund, L. W.; Grimmel, M.; Riess, A.; De Boer, E.; Padilla-Lopez, S.; Bakhtiari, S.; Ostendorf, A.; Zweier, C.; Smol, T.; Willems, M.; Faivre, L.; Scala, M.; Striano, P.; Bagnasco, I.; Koboldt, D.; Iascone, M.; Suerink, M.; Kruer, M. C.; Levy, J.; Verloes, A.; Abbott, C. M.; Ruaud, L.
Electroclinical Features of Epilepsy in Kleefstra Syndrome
2023-01-01 Giacomini, Thea; Cordani, Ramona; Bagnasco, Irene; Vercellino, Fabiana; Giordano, Lucio; Milito, Giuseppe; Ferrero, Giovanni Battista; Mandrile, Giorgia; Scala, Marcello; Meli, Mariaclaudia; Falsaperla, Raffaele; Luria, Gianvittorio; De Grandis, Elisa; Canale, Edoardo; Amadori, Elisabetta; Striano, Pasquale; Nobili, Lino; Siri, Laura
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
2024-01-01 Paulet, A.; Bennett-Ness, C.; Ageorges, F.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; Piard, J.; Coubes, C.; Lam, W.; Lynch, S. A.; Groeschel, S.; Ramond, F.; Fluss, J.; Fagerberg, C.; Brasch Andersen, C.; Varvagiannis, K.; Kleefstra, T.; Gerard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denomme-Pichon, A. -S.; Vincent-Devulder, A.; Haack, T.; Marsh, J. A.; Laulund, L. W.; Grimmel, M.; Riess, A.; De Boer, E.; Padilla-Lopez, S.; Bakhtiari, S.; Ostendorf, A.; Zweier, C.; Smol, T.; Willems, M.; Faivre, L.; Scala, M.; Striano, P.; Bagnasco, I.; Koboldt, D.; Iascone, M.; Suerink, M.; Kruer, M. C.; Levy, J.; Verloes, A.; Abbott, C. M.; Ruaud, L.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients | 1-gen-2023 | Engel, Camille; Valence, Stéphanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valérie; Denommé-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gérard, Marion; Gleeson, Joseph G; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Déborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormières, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlène; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette | |
| Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 32, 9, (1144-1149), 10.1038/s41431-024-01560-8) | 1-gen-2024 | Paulet, A.; Bennett-Ness, C.; Ageorges, F.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; Piard, J.; Coubes, C.; Lam, W.; Lynch, S. A.; Groeschel, S.; Ramond, F.; Fluss, J.; Fagerberg, C.; Brasch Andersen, C.; Varvagiannis, K.; Kleefstra, T.; Gerard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denomme-Pichon, A. -S.; Vincent-Devulder, A.; Haack, T.; Marsh, J. A.; Laulund, L. W.; Grimmel, M.; Riess, A.; De Boer, E.; Padilla-Lopez, S.; Bakhtiari, S.; Ostendorf, A.; Zweier, C.; Smol, T.; Willems, M.; Faivre, L.; Scala, M.; Striano, P.; Bagnasco, I.; Koboldt, D.; Iascone, M.; Suerink, M.; Kruer, M. C.; Levy, J.; Verloes, A.; Abbott, C. M.; Ruaud, L. | |
| Electroclinical Features of Epilepsy in Kleefstra Syndrome | 1-gen-2023 | Giacomini, Thea; Cordani, Ramona; Bagnasco, Irene; Vercellino, Fabiana; Giordano, Lucio; Milito, Giuseppe; Ferrero, Giovanni Battista; Mandrile, Giorgia; Scala, Marcello; Meli, Mariaclaudia; Falsaperla, Raffaele; Luria, Gianvittorio; De Grandis, Elisa; Canale, Edoardo; Amadori, Elisabetta; Striano, Pasquale; Nobili, Lino; Siri, Laura | |
| Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study | 1-gen-2024 | Paulet, A.; Bennett-Ness, C.; Ageorges, F.; Trost, D.; Green, A.; Goudie, D.; Jewell, R.; Kraatari-Tiri, M.; Piard, J.; Coubes, C.; Lam, W.; Lynch, S. A.; Groeschel, S.; Ramond, F.; Fluss, J.; Fagerberg, C.; Brasch Andersen, C.; Varvagiannis, K.; Kleefstra, T.; Gerard, B.; Fradin, M.; Vitobello, A.; Tenconi, R.; Denomme-Pichon, A. -S.; Vincent-Devulder, A.; Haack, T.; Marsh, J. A.; Laulund, L. W.; Grimmel, M.; Riess, A.; De Boer, E.; Padilla-Lopez, S.; Bakhtiari, S.; Ostendorf, A.; Zweier, C.; Smol, T.; Willems, M.; Faivre, L.; Scala, M.; Striano, P.; Bagnasco, I.; Koboldt, D.; Iascone, M.; Suerink, M.; Kruer, M. C.; Levy, J.; Verloes, A.; Abbott, C. M.; Ruaud, L. |