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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Mirzaa GM, et al. Among authors: ishak g. JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363. JAMA Neurol. 2016. PMID: 27159400 Free PMC article.
Tract-based spatial statistical analysis of diffusion tensor imaging in pediatric patients with mitochondrial disease: widespread reduction in fractional anisotropy of white matter tracts.
Ishak GE, Poliakov AV, Poliachik SL, Saneto RP, Novotny EJ Jr, McDaniel S, Ojemann JG, Shaw DW, Friedman SD. Ishak GE, et al. AJNR Am J Neuroradiol. 2012 Oct;33(9):1726-30. doi: 10.3174/ajnr.A3045. Epub 2012 Apr 12. AJNR Am J Neuroradiol. 2012. PMID: 22499843 Free PMC article.
Callosal alterations in pyridoxine-dependent epilepsy.
Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DW, Willemsen MA, Bok LA, Gospe SM Jr. Friedman SD, et al. Dev Med Child Neurol. 2014 Nov;56(11):1106-10. doi: 10.1111/dmcn.12511. Epub 2014 Jun 18. Dev Med Child Neurol. 2014. PMID: 24942048 Free article.
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, Dobyns WB. Jansen LA, et al. Among authors: ishak ge. Brain. 2015 Jun;138(Pt 6):1613-28. doi: 10.1093/brain/awv045. Epub 2015 Feb 25. Brain. 2015. PMID: 25722288 Free PMC article.
120 results