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Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Donti TR, Cappuccio G, Hubert L, Neira J, Atwal PS, Miller MJ, Cardon AL, Sutton VR, Porter BE, Baumer FM, Wangler MF, Sun Q, Emrick LT, Elsea SH. Donti TR, et al. Among authors: porter be. Mol Genet Metab Rep. 2016 Jul 27;8:61-6. doi: 10.1016/j.ymgmr.2016.07.007. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27504266 Free PMC article.
Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.
Bainbridge MN, Cooney E, Miller M, Kennedy AD, Wulff JE, Donti T, Jhangiani SN, Gibbs RA, Elsea SH, Porter BE, Graham BH. Bainbridge MN, et al. Among authors: porter be. Mol Genet Metab. 2017 Aug;121(4):314-319. doi: 10.1016/j.ymgme.2017.06.009. Epub 2017 Jun 24. Mol Genet Metab. 2017. PMID: 28673551 Free PMC article.
Language Dysfunction in Pediatric Epilepsy.
Baumer FM, Cardon AL, Porter BE. Baumer FM, et al. Among authors: porter be. J Pediatr. 2018 Mar;194:13-21. doi: 10.1016/j.jpeds.2017.10.031. Epub 2017 Dec 11. J Pediatr. 2018. PMID: 29241678 Free PMC article. Review. No abstract available.
Clinical and electrographic features of sunflower syndrome.
Baumer FM, Porter BE. Baumer FM, et al. Among authors: porter be. Epilepsy Res. 2018 May;142:58-63. doi: 10.1016/j.eplepsyres.2018.03.002. Epub 2018 Mar 3. Epilepsy Res. 2018. PMID: 29555355 Free PMC article.
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: porter be. Brain. 2022 Aug 27;145(8):2704-2720. doi: 10.1093/brain/awac117. Brain. 2022. PMID: 35441233 Free PMC article.
125 results