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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D, Gade M, Yang E, Koh HY, Lu J, Walley NM, Buckley AF, Sands TT, Akman CI, Mikati MA, McKhann GM, Goldman JE, Canoll P, Alexander AL, Park KL, Von Allmen GK, Rodziyevska O, Bhattacharjee MB, Lidov HGW, Vogel H, Grant GA, Porter BE, Poduri AH, Crino PB, Heinzen EL. Lai D, et al. Among authors: poduri ah. Brain. 2022 Aug 27;145(8):2704-2720. doi: 10.1093/brain/awac117. Brain. 2022. PMID: 35441233 Free PMC article.
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. Poduri A, et al. Brain Dev. 2010 Aug;32(7):550-5. doi: 10.1016/j.braindev.2009.08.005. Epub 2009 Sep 13. Brain Dev. 2010. PMID: 19751967 Free PMC article.
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
Poduri A, Wang Y, Gordon D, Barral-Rodriguez S, Barker-Cummings C, Ulgen A, Chitsazzadeh V, Hill RS, Risch N, Hauser WA, Pedley TA, Walsh CA, Ottman R. Poduri A, et al. Neurology. 2009 Oct 20;73(16):1264-72. doi: 10.1212/WNL.0b013e3181bd10d3. Neurology. 2009. PMID: 19841378 Free PMC article.
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. Poduri A, et al. Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010. Neuron. 2012. PMID: 22500628 Free PMC article.
Focal cortical dysplasia is more common in boys than in girls.
Ortiz-González XR, Poduri A, Roberts CM, Sullivan JE, Marsh ED, Porter BE. Ortiz-González XR, et al. Epilepsy Behav. 2013 Apr;27(1):121-3. doi: 10.1016/j.yebeh.2012.12.035. Epub 2013 Feb 13. Epilepsy Behav. 2013. PMID: 23416281 Free PMC article.
234 results