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Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Fry AE, Marra C, Derrick AV, Pickrell WO, Higgins AT, Te Water Naude J, McClatchey MA, Davies SJ, Metcalfe KA, Tan HJ, Mohanraj R, Avula S, Williams D, Brady LI, Mesterman R, Tarnopolsky MA, Zhang Y, Yang Y, Wang X; Genomics England Research Consortium; Rees MI, Goldfarb M, Chung SK. Fry AE, et al. Among authors: marra c. Am J Hum Genet. 2021 Jan 7;108(1):176-185. doi: 10.1016/j.ajhg.2020.10.017. Epub 2020 Nov 26. Am J Hum Genet. 2021. PMID: 33245860 Free PMC article.
Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.
Velíšková J, Marra C, Liu Y, Shekhar A, Park DS, Iatckova V, Xie Y, Fishman GI, Velíšek L, Goldfarb M. Velíšková J, et al. Among authors: marra c. Epilepsia. 2021 Jul;62(7):1546-1558. doi: 10.1111/epi.16916. Epub 2021 May 13. Epilepsia. 2021. PMID: 33982289 Free PMC article.
Correction to: A digital teleneuropsychology platform for the diagnosis of mild cognitive impairment: from concept to certification as a medical device.
Panzavolta A, Cerami C, Caffarra P, De Vita D, Dodich A, Fonti C, L'Abbate F, Laganà V, Lavorgna L, Marra C, Papagno C, Pellegrini FF, Stracciari A, Trojano L, Iaquinta T, Ravizza A, Sternini F, Pandolfi R, Sanzone S, Calore M, Cappa SF. Panzavolta A, et al. Among authors: marra c. Neurol Sci. 2024 Apr 1. doi: 10.1007/s10072-024-07497-6. Online ahead of print. Neurol Sci. 2024. PMID: 38558320 No abstract available.
Role of HLA matching and donor specific antibody development in long-term survival, acute rejection and cardiac allograft vasculopathy.
Costa D, Picascia A, Grimaldi V, Amarelli C, Petraio A, Levi A, Di Donato M, Pirozzi AVA, Fiorito C, Moccia G, Gallo A, Strozziero M, Marra C, De Feo M, Cacciatore F, Maiello C, Napoli C. Costa D, et al. Among authors: marra c. Transpl Immunol. 2024 Apr;83:102011. doi: 10.1016/j.trim.2024.102011. Epub 2024 Feb 23. Transpl Immunol. 2024. PMID: 38403197 Free article.
876 results