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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: lidov hgw. Brain. 2022 Aug 27;145(8):2704-2720. doi: 10.1093/brain/awac117. Brain. 2022. PMID: 35441233 Free PMC article.
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB, Poduri AH, Heinzen EL. Winawer MR, et al. Among authors: lidov hgw. Ann Neurol. 2018 Jun;83(6):1133-1146. doi: 10.1002/ana.25243. Epub 2018 May 16. Ann Neurol. 2018. PMID: 29679388 Free PMC article.
Rasmussen's encephalitis presenting as focal cortical dysplasia.
O'Rourke DJ, Bergin A, Rotenberg A, Peters J, Gorman M, Poduri A, Cryan J, Lidov H, Madsen J, Harini C. O'Rourke DJ, et al. Epilepsy Behav Case Rep. 2014 Mar 12;2:86-9. doi: 10.1016/j.ebcr.2014.01.009. eCollection 2014. Epilepsy Behav Case Rep. 2014. PMID: 25667877 Free PMC article.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors.
Ramkissoon SH, Bandopadhayay P, Hwang J, Ramkissoon LA, Greenwald NF, Schumacher SE, O'Rourke R, Pinches N, Ho P, Malkin H, Sinai C, Filbin M, Plant A, Bi WL, Chang MS, Yang E, Wright KD, Manley PE, Ducar M, Alexandrescu S, Lidov H, Delalle I, Goumnerova LC, Church AJ, Janeway KA, Harris MH, MacConaill LE, Folkerth RD, Lindeman NI, Stiles CD, Kieran MW, Ligon AH, Santagata S, Dubuc AM, Chi SN, Beroukhim R, Ligon KL. Ramkissoon SH, et al. Neuro Oncol. 2017 Jul 1;19(7):986-996. doi: 10.1093/neuonc/now294. Neuro Oncol. 2017. PMID: 28104717 Free PMC article.
Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine.
Cole AR, Perry DA, Raza A, Nedder AP, Pollack E, Regan WL, van den Bosch SJ, Polizzotti BD, Yang E, Davila D, Afacan O, Warfield SK, Ou Y, Sefton B, Everett AD, Neil JJ, Lidov HGW, Mayer JE, Kheir JN. Cole AR, et al. Among authors: lidov hgw. JACC Basic Transl Sci. 2019 Mar 27;4(2):176-187. doi: 10.1016/j.jacbts.2018.11.006. eCollection 2019 Apr. JACC Basic Transl Sci. 2019. PMID: 31061920 Free PMC article.
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile.
Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Giannikou K, et al. Mod Pathol. 2021 Feb;34(2):264-279. doi: 10.1038/s41379-020-00659-9. Epub 2020 Oct 13. Mod Pathol. 2021. PMID: 33051600 Free PMC article.
111 results