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Page 1
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: zara f. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Familial benign nonprogressive myoclonic epilepsies.
Striano P, de Falco FA, Minetti C, Zara F. Striano P, et al. Among authors: zara f. Epilepsia. 2009 May;50 Suppl 5:37-40. doi: 10.1111/j.1528-1167.2009.02118.x. Epilepsia. 2009. PMID: 19469844 Free article. Review.
Epilepsy: a 'going ape' model for SUDEP?
Striano P, Zara F. Striano P, et al. Among authors: zara f. Nat Rev Neurol. 2009 Dec;5(12):639-40. doi: 10.1038/nrneurol.2009.190. Nat Rev Neurol. 2009. PMID: 19953110 No abstract available.
Genetic epilepsies.
Striano P, Zara F. Striano P, et al. Among authors: zara f. Eur J Paediatr Neurol. 2011 Jan;15(1):88-9. doi: 10.1016/j.ejpn.2010.05.004. Epub 2010 May 31. Eur J Paediatr Neurol. 2011. PMID: 20570192 No abstract available.
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F. Falace A, et al. Among authors: zara f. Am J Hum Genet. 2010 Sep 10;87(3):365-70. doi: 10.1016/j.ajhg.2010.07.020. Epub 2010 Aug 19. Am J Hum Genet. 2010. PMID: 20727515 Free PMC article.
Hemidystonia in uncontrolled type 2 diabetes mellitus.
Striano P, Caranci F, Pappatà S, Zara F, Striano S. Striano P, et al. Among authors: zara f. Arch Neurol. 2011 May;68(5):674. doi: 10.1001/archneurol.2011.92. Arch Neurol. 2011. PMID: 21555647 No abstract available.
510 results