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207 results

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Page 1
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR, Galosi S, Romani M, Montomoli M, Carss KJ, Raymond FL, Parrini E, Bianchini C, McShane T, Dale RC, Mohammad SS, Shah U, Mahant N, Ng J, McTague A, Samanta R, Vadlamani G, Valente EM, Leuzzi V, Kurian MA, Guerrini R. Danti FR, et al. Among authors: kurian ma. Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr. Neurol Genet. 2017. PMID: 28357411 Free PMC article.
Elevated VGKC-complex antibodies in a boy with fever-induced refractory epileptic encephalopathy in school-age children (FIRES).
Illingworth MA, Hanrahan D, Anderson CE, O'Kane K, Anderson J, Casey M, de Sousa C, Cross JH, Wright S, Dale RC, Vincent A, Kurian MA. Illingworth MA, et al. Among authors: kurian ma. Dev Med Child Neurol. 2011 Nov;53(11):1053-7. doi: 10.1111/j.1469-8749.2011.04008.x. Epub 2011 May 18. Dev Med Child Neurol. 2011. PMID: 21592118 Free article.
PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.
Gardiner AR, Bhatia KP, Stamelou M, Dale RC, Kurian MA, Schneider SA, Wali GM, Counihan T, Schapira AH, Spacey SD, Valente EM, Silveira-Moriyama L, Teive HA, Raskin S, Sander JW, Lees A, Warner T, Kullmann DM, Wood NW, Hanna M, Houlden H. Gardiner AR, et al. Among authors: kurian ma. Neurology. 2012 Nov 20;79(21):2115-21. doi: 10.1212/WNL.0b013e3182752c5a. Epub 2012 Oct 17. Neurology. 2012. PMID: 23077024 Free PMC article.
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
McTague A, Appleton R, Avula S, Cross JH, King MD, Jacques TS, Bhate S, Cronin A, Curran A, Desurkar A, Farrell MA, Hughes E, Jefferson R, Lascelles K, Livingston J, Meyer E, McLellan A, Poduri A, Scheffer IE, Spinty S, Kurian MA, Kneen R. McTague A, et al. Among authors: kurian ma. Brain. 2013 May;136(Pt 5):1578-91. doi: 10.1093/brain/awt073. Epub 2013 Apr 18. Brain. 2013. PMID: 23599387 Free PMC article.
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ. Livingston JH, et al. Among authors: kurian ma. J Med Genet. 2014 Feb;51(2):76-82. doi: 10.1136/jmedgenet-2013-102038. Epub 2013 Nov 21. J Med Genet. 2014. PMID: 24262145
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Martin HC, et al. Among authors: kurian ma. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25. Hum Mol Genet. 2014. PMID: 24463883 Free PMC article.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA. Ng J, et al. Among authors: kurian ma. Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10. Brain. 2014. PMID: 24613933 Free PMC article.
What is new for monoamine neurotransmitter disorders?
Marecos C, Ng J, Kurian MA. Marecos C, et al. Among authors: kurian ma. J Inherit Metab Dis. 2014 Jul;37(4):619-26. doi: 10.1007/s10545-014-9697-4. Epub 2014 Apr 3. J Inherit Metab Dis. 2014. PMID: 24696406 Review.
207 results