Sfoglia per Autore
ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria
2021 Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møller, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo
Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation
2021 Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela Nicole; Morgan, Anna; Pelliccione, Giulia; Girotto, Giorgia; Bigoni, Stefania
PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum
2021 Johannesen, K. M.; Gardella, E.; Gjerulfsen, C. E.; Bayat, A.; Rouhl, R. P. W.; Reijnders, M.; Whalen, S.; Keren, B.; Buratti, J.; Courtin, T.; Wierenga, K. J.; Isidor, B.; Piton, A.; Faivre, L.; Garde, A.; Moutton, S.; Tran-Mau-Them, F.; Denomme-Pichon, A. -S.; Coubes, C.; Larson, A.; Esser, M. J.; Appendino, J. P.; Al-Hertani, W.; Gamboni, B.; Mampel, A.; Mayorga, L.; Orsini, A.; Bonuccelli, A.; Suppiej, A.; Van-Gils, J.; Vogt, J.; Damioli, S.; Giordano, L.; Moortgat, S.; Wirrell, E.; Hicks, S.; Kini, U.; Noble, N.; Stewart, H.; Asakar, S.; Cohen, J. S.; Naidu, S. R.; Collier, A.; Brilstra, E. H.; Li, M. H.; Brew, C.; Bigoni, S.; Ognibene, D.; Ballardini, E.; Ruivenkamp, C.; Faggioli, R.; Afenjar, A.; Rodriguez, D.; Bick, D.; Segal, D.; Coman, D.; Gunning, B.; Devinsky, O.; Demmer, L. A.; Grebe, T.; Pruna, D.; Cursio, I.; Greenhalgh, L.; Graziano, C.; Singh, R. R.; Cantalupo, G.; Willems, M.; Yoganathan, S.; Goes, F.; Leventer, R. J.; Colavito, D.; Olivotto, S.; Scelsa, B.; Andrade, A. V.; Ratke, K.; Tokarz, F.; Khan, A. S.; Ormieres, C.; Benko, W.; Keough, K.; Keros, S.; Hussain, S.; Franques, A.; Varsalone, F.; Gronborg, S.; Mignot, C.; Heron, D.; Nava, C.; Isapof, A.; Borlot, F.; Whitney, R.; Ronan, A.; Foulds, N.; Somorai, M.; Brandsema, J.; Helbig, K. L.; Helbig, I.; Ortiz-Gonzalez, X. R.; Dubbs, H.; Vitobello, A.; Anderson, M.; Spadafore, D.; Hunt, D.; Moller, R. S.; Rubboli, G.
Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes
2021 Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Sheila; Adamo d’Adamo, Pio
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
2022 Broly, Martin; V Polevoda, Bogdan; M Awayda, Kamel; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; S Alkuraya, Fowzan; Leon, Alberta; E van Loon, Rosa L; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Chern Lim, Sze; S Pais, Lynn; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; R O'Connell, Mitchell
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype
file con accesso da definire2022 Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania
Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome
file con accesso da definire2023 Musumano, Lucia Belen; Fancello, Virginia; Negossi, Laura; Ballardini, Elisa; Bigoni, Stefania; Ciorba, Andrea
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria | 2021 | Vetro, Annalisa; Nielsen, Hang N; Holm, Rikke; Hevner, Robert F; Parrini, Elena; Powis, Zoe; Møll...er, Rikke S; Bellan, Cristina; Simonati, Alessandro; Lesca, Gaétan; Helbig, Katherine L; Palmer, Elizabeth E; Mei, Davide; Ballardini, Elisa; Haeringen, Arie Van; Syrbe, Steffen; Leuzzi, Vincenzo; Cioni, Giovanni; Curry, Cynthia J; Costain, Gregory; Santucci, Margherita; Chong, Karen; Mancini, Grazia M S; Clayton-Smith, Jill; A-Collaborators, Atp A/; Bigoni, Stefania; Scheffer, Ingrid E; Dobyns, William B; Vilsen, Bente; Guerrini, Renzo | |
| Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation | 2021 | Ciorba, Andrea; Corazzi, Virginia; Melegatti, Michela Nicole; Morgan, Anna; Pelliccione, Giulia; ...Girotto, Giorgia; Bigoni, Stefania | |
| PURA-Related Developmental and Epileptic Encephalopathy Phenotypic and Genotypic Spectrum | 2021 | Johannesen, K. M.; Gardella, E.; Gjerulfsen, C. E.; Bayat, A.; Rouhl, R. P. W.; Reijnders, M.; Wh...alen, S.; Keren, B.; Buratti, J.; Courtin, T.; Wierenga, K. J.; Isidor, B.; Piton, A.; Faivre, L.; Garde, A.; Moutton, S.; Tran-Mau-Them, F.; Denomme-Pichon, A. -S.; Coubes, C.; Larson, A.; Esser, M. J.; Appendino, J. P.; Al-Hertani, W.; Gamboni, B.; Mampel, A.; Mayorga, L.; Orsini, A.; Bonuccelli, A.; Suppiej, A.; Van-Gils, J.; Vogt, J.; Damioli, S.; Giordano, L.; Moortgat, S.; Wirrell, E.; Hicks, S.; Kini, U.; Noble, N.; Stewart, H.; Asakar, S.; Cohen, J. S.; Naidu, S. R.; Collier, A.; Brilstra, E. H.; Li, M. H.; Brew, C.; Bigoni, S.; Ognibene, D.; Ballardini, E.; Ruivenkamp, C.; Faggioli, R.; Afenjar, A.; Rodriguez, D.; Bick, D.; Segal, D.; Coman, D.; Gunning, B.; Devinsky, O.; Demmer, L. A.; Grebe, T.; Pruna, D.; Cursio, I.; Greenhalgh, L.; Graziano, C.; Singh, R. R.; Cantalupo, G.; Willems, M.; Yoganathan, S.; Goes, F.; Leventer, R. J.; Colavito, D.; Olivotto, S.; Scelsa, B.; Andrade, A. V.; Ratke, K.; Tokarz, F.; Khan, A. S.; Ormieres, C.; Benko, W.; Keough, K.; Keros, S.; Hussain, S.; Franques, A.; Varsalone, F.; Gronborg, S.; Mignot, C.; Heron, D.; Nava, C.; Isapof, A.; Borlot, F.; Whitney, R.; Ronan, A.; Foulds, N.; Somorai, M.; Brandsema, J.; Helbig, K. L.; Helbig, I.; Ortiz-Gonzalez, X. R.; Dubbs, H.; Vitobello, A.; Anderson, M.; Spadafore, D.; Hunt, D.; Moller, R. S.; Rubboli, G. | |
| Identification of a new mutation in RSK2, the gene for coffin–lowry syndrome (CLS), in two related patients with mild and atypical phenotypes | 2021 | Di Stazio, Mariateresa; Bigoni, Stefania; Iuso, Nicola; Vuch, Josef; Selvatici, Rita; Ulivi, Shei...la; Adamo d’Adamo, Pio | |
| THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder | 2022 | Broly, Martin; V Polevoda, Bogdan; M Awayda, Kamel; Tong, Ning; Lentini, Jenna; Besnard, Thomas; ...Deb, Wallid; O'Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; S Alkuraya, Fowzan; Leon, Alberta; E van Loon, Rosa L; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; Al-Maawali, Almundher; Al-Murshedi, Fathiya; Ganesh, Anuradha; Al-Mamari, Watfa; Chern Lim, Sze; S Pais, Lynn; Brown, Natasha; Riazuddin, Saima; Bézieau, Stéphane; Fu, Dragony; Isidor, Bertrand; Cogné, Benjamin; R O'Connell, Mitchell | |
| Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype | 2022 | Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, ...Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania | file con accesso da definire |
| Auditory Neuropathy Spectrum Disorder in the White Sutton Syndrome | 2023 | Musumano, Lucia Belen; Fancello, Virginia; Negossi, Laura; Ballardini, Elisa; Bigoni, Stefania; C...iorba, Andrea | file con accesso da definire |
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