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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Among authors: kalnins rm. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 Free PMC article.
Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.
Hildebrand MS, Harvey AS, Malone S, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF. Hildebrand MS, et al. Among authors: kalnins r. Neurol Genet. 2018 May 1;4(3):e236. doi: 10.1212/NXG.0000000000000236. eCollection 2018 Jun. Neurol Genet. 2018. PMID: 29725622 Free PMC article.
Magnetic resonance imaging features of gemistocytic astrocytoma.
Simkin PM, Yang N, Tsui A, Kalnins RM, Fitt G, Gaillard F. Simkin PM, et al. Among authors: kalnins rm. J Med Imaging Radiat Oncol. 2016 Dec;60(6):733-740. doi: 10.1111/1754-9485.12550. Epub 2016 Oct 21. J Med Imaging Radiat Oncol. 2016. PMID: 27766769
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium. Berkovic SF, et al. Neurology. 2016 Aug 9;87(6):579-84. doi: 10.1212/WNL.0000000000002943. Epub 2016 Jul 13. Neurology. 2016. PMID: 27412140 Free PMC article.
The surgically remediable syndrome of epilepsy associated with bottom-of-sulcus dysplasia.
Harvey AS, Mandelstam SA, Maixner WJ, Leventer RJ, Semmelroch M, MacGregor D, Kalnins RM, Perchyonok Y, Fitt GJ, Barton S, Kean MJ, Fabinyi GC, Jackson GD. Harvey AS, et al. Among authors: kalnins rm. Neurology. 2015 May 19;84(20):2021-8. doi: 10.1212/WNL.0000000000001591. Epub 2015 Apr 17. Neurology. 2015. PMID: 25888556 Free PMC article.
Waldenström macroglobulinaemia and intestinal lymphangiectasia.
Cooke RE, Kalnins RM, Ho WK. Cooke RE, et al. Among authors: kalnins rm. Br J Haematol. 2014 Nov;167(3):292. doi: 10.1111/bjh.13041. Epub 2014 Jul 21. Br J Haematol. 2014. PMID: 25039993 Free article. No abstract available.
79 results