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Hemimegalencephaly and neurofibromatosis.
Cusmai R, Curatolo P, Mangano S, Cheminal R, Echenne B. Cusmai R, et al. Among authors: mangano s. Neuropediatrics. 1990 Nov;21(4):179-82. doi: 10.1055/s-2008-1071490. Neuropediatrics. 1990. PMID: 2127080
Zonisamide in children and young adults with refractory epilepsy: an open label, multicenter Italian study.
Coppola G, Grosso S, Verrotti A, Parisi P, Luchetti A, Franzoni E, Mangano S, Pelliccia A, Operto FF, Iannetti P, Curatolo P, Balestri P, Pascotto A. Coppola G, et al. Among authors: mangano s. Epilepsy Res. 2009 Feb;83(2-3):112-6. doi: 10.1016/j.eplepsyres.2008.10.012. Epub 2008 Dec 10. Epilepsy Res. 2009. PMID: 19081227 Free article. Clinical Trial.
Hyperekplexia caused by dominant-negative suppression of glyra1 function.
Bellini G, Miceli F, Mangano S, Miraglia del Giudice E, Coppola G, Barbagallo A, Taglialatela M, Pascotto A. Bellini G, et al. Among authors: mangano s. Neurology. 2007 May 29;68(22):1947-9. doi: 10.1212/01.wnl.0000263193.75291.85. Neurology. 2007. PMID: 17536053 Free article. No abstract available.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Neuray C, et al. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178. Brain. 2020. PMID: 32705143 Free PMC article.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
137 results