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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: masruha mr. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
Adolescents with chronic migraine commonly exhibit depressive symptoms.
Arita JH, Lin J, Pinho RS, Minett TS, de Souza Vitalle MS, Fisberg M, Peres MF, Vilanova LC, Masruha MR. Arita JH, et al. Among authors: masruha mr. Acta Neurol Belg. 2013 Mar;113(1):61-5. doi: 10.1007/s13760-012-0135-9. Epub 2012 Oct 2. Acta Neurol Belg. 2013. PMID: 23055110
Inherited manganism: the "cock-walk" gait and typical neuroimaging features.
Avelino MA, Fusão EF, Pedroso JL, Arita JH, Ribeiro RT, Pinho RS, Tuschl K, Barsottini OG, Masruha MR. Avelino MA, et al. Among authors: masruha mr. J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4. J Neurol Sci. 2014. PMID: 24746291
Primary diffuse leptomeningeal gliomatosis.
Gonçalves AL, Masruha MR, Carrete H Jr, Stávale JN, Silva NS, Vilanova LC. Gonçalves AL, et al. Among authors: masruha mr. Arq Neuropsiquiatr. 2008 Mar;66(1):85-7. doi: 10.1590/s0004-282x2008000100021. Arq Neuropsiquiatr. 2008. PMID: 18392423 Free article. No abstract available.
Benign neonatal sleep myoclonus.
Marx C, Masruha MR, Garzon E, Vilanova LC. Marx C, et al. Among authors: masruha mr. Epileptic Disord. 2008 Jun;10(2):177-80. doi: 10.1684/epd.2008.0196. Epileptic Disord. 2008. PMID: 18539573 Free article.
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