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Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA. Miller KE, et al. Among authors: pindrik j. Nat Genet. 2023 Nov;55(11):1920-1928. doi: 10.1038/s41588-023-01547-z. Epub 2023 Oct 23. Nat Genet. 2023. PMID: 37872450 Free PMC article.
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.
Miller KE, Koboldt DC, Schieffer KM, Bedrosian TA, Crist E, Sheline A, Leraas K, Magrini V, Zhong H, Brennan P, Bush J, Fitch J, Bir N, Miller AR, Cottrell CE, Leonard J, Pindrik JA, Rusin JA, Shah SH, White P, Wilson RK, Mardis ER, Pierson CR, Ostendorf AP. Miller KE, et al. Among authors: pindrik ja. Neurol Genet. 2020 Jun 17;6(4):e460. doi: 10.1212/NXG.0000000000000460. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637635 Free PMC article.
Detection of brain somatic variation in epilepsy-associated developmental lesions.
Bedrosian TA, Miller KE, Grischow OE, Schieffer KM, LaHaye S, Yoon H, Miller AR, Navarro J, Westfall J, Leraas K, Choi S, Williamson R, Fitch J, Kelly BJ, White P, Lee K, McGrath S, Cottrell CE, Magrini V, Leonard J, Pindrik J, Shaikhouni A, Boué DR, Thomas DL, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Koboldt DC. Bedrosian TA, et al. Among authors: pindrik j. Epilepsia. 2022 Aug;63(8):1981-1997. doi: 10.1111/epi.17323. Epub 2022 Jun 23. Epilepsia. 2022. PMID: 35687047
Molecular and spatial heterogeneity of microglia in Rasmussen encephalitis.
Westfall JJ, Schwind WN, Sran S, Navarro JB, Leonard J, Pindrik JA, Pierson CR, Boué DR, Koboldt DC, Ostendorf AP, Wilson RK, Mardis ER, Miller KE, Bedrosian TA. Westfall JJ, et al. Among authors: pindrik ja. Acta Neuropathol Commun. 2022 Nov 21;10(1):168. doi: 10.1186/s40478-022-01472-y. Acta Neuropathol Commun. 2022. PMID: 36411471 Free PMC article.
Post-ictal Rhythmic Thalamic Activity of the Centromedian Nucleus.
Arredondo K, Ostendorf AP, Ahrens S, Beatty CW, Pindrik J, Shaikhouni A. Arredondo K, et al. Among authors: pindrik j. J Clin Neurophysiol. 2024 May 1;41(4):326-333. doi: 10.1097/WNP.0000000000000991. Epub 2023 Mar 9. J Clin Neurophysiol. 2024. PMID: 36893381
49 results