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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Among authors: saneto rp. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
When might hemispheric favouring of epileptiform discharges begin?
Doherty MJ, Simon E, De Menezes MS, Kuratani JD, Saneto RP, Homles MD, Farrell DF, Watson NF, Dodrill CB, Miller JW. Doherty MJ, et al. Among authors: saneto rp. Seizure. 2003 Dec;12(8):595-8. doi: 10.1016/s1059-1311(03)00107-9. Seizure. 2003. PMID: 14630500 Free article.
Vagus nerve stimulation for intractable seizures in children.
Saneto RP, Sotero de Menezes MA, Ojemann JG, Bournival BD, Murphy PJ, Cook WB, Avellino AM, Ellenbogen RG. Saneto RP, et al. Pediatr Neurol. 2006 Nov;35(5):323-6. doi: 10.1016/j.pediatrneurol.2006.06.005. Pediatr Neurol. 2006. PMID: 17074602
Neuroimaging of mitochondrial disease.
Saneto RP, Friedman SD, Shaw DW. Saneto RP, et al. Mitochondrion. 2008 Dec;8(5-6):396-413. doi: 10.1016/j.mito.2008.05.003. Epub 2008 May 23. Mitochondrion. 2008. PMID: 18590986 Free PMC article. Review.
Cerebral MRI abnormalities associated with vigabatrin therapy.
Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, Gaillard WD. Pearl PL, et al. Among authors: saneto rp. Epilepsia. 2009 Feb;50(2):184-94. doi: 10.1111/j.1528-1167.2008.01728.x. Epub 2008 Sep 8. Epilepsia. 2009. PMID: 18783433 Free article.
142 results