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Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.
Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A. Santorelli FM, et al. Among authors: bernardina bd. Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19. Orphanet J Rare Dis. 2013. PMID: 23374165 Free PMC article.
Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.
Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM. Simonati A, et al. Among authors: bernardina bd. Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018. Pediatr Neurol. 2009. PMID: 19302939
Microgyria associated with Sturge-Weber angiomatosis.
Simonati A, Colamaria V, Bricolo A, Bernardina BD, Rizzuto N. Simonati A, et al. Among authors: bernardina bd. Childs Nerv Syst. 1994 Aug;10(6):392-5. doi: 10.1007/BF00335129. Childs Nerv Syst. 1994. PMID: 7842427
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F. Specchio N, et al. Among authors: bernardina bd. Epilepsia. 2011 Jul;52(7):1251-7. doi: 10.1111/j.1528-1167.2011.03063.x. Epub 2011 Apr 11. Epilepsia. 2011. PMID: 21480887 Free article.
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA).
Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA investigators. Sauter M, et al. Orphanet J Rare Dis. 2021 Jul 6;16(1):301. doi: 10.1186/s13023-021-01917-y. Orphanet J Rare Dis. 2021. PMID: 34229737 Free PMC article.
Familial Ohtahara syndrome due to a novel ARX gene mutation.
Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD. Giordano L, et al. Among authors: bernardina bd. Am J Med Genet A. 2010 Dec;152A(12):3133-7. doi: 10.1002/ajmg.a.33701. Am J Med Genet A. 2010. PMID: 21108397 Free article.
62 results