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Page 1
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: mcdaniel ss. JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363. JAMA Neurol. 2016. PMID: 27159400 Free PMC article.
Tissue localization during resective epilepsy surgery.
Poliachik SL, Poliakov AV, Jansen LA, McDaniel SS, Wray CD, Kuratani J, Saneto RP, Ojemann JG, Novotny EJ Jr. Poliachik SL, et al. Among authors: mcdaniel ss. Neurosurg Focus. 2013 Jun;34(6):E8. doi: 10.3171/2013.3.FOCUS1360. Neurosurg Focus. 2013. PMID: 23724842
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.
Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.
Paciorkowski AR, McDaniel SS, Jansen LA, Tully H, Tuttle E, Ghoneim DH, Tupal S, Gunter SA, Vasta V, Zhang Q, Tran T, Liu YB, Ozelius LJ, Brashear A, Sweadner KJ, Dobyns WB, Hahn S. Paciorkowski AR, et al. Among authors: mcdaniel ss. Epilepsia. 2015 Mar;56(3):422-30. doi: 10.1111/epi.12914. Epub 2015 Feb 5. Epilepsia. 2015. PMID: 25656163 Free PMC article.
24 results