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Pathogenic Effect of TP73 Gene Variants in People With Amyotrophic Lateral Sclerosis.
Russell KL, Downie JM, Gibson SB, Tsetsou S, Keefe MD, Duran JA, Figueroa KP, Bromberg MB, Murtaugh LC, Bonkowsky JL, Pulst SM, Jorde LB. Russell KL, et al. Among authors: bonkowsky jl. Neurology. 2021 Jul 19;97(3):e225-e235. doi: 10.1212/WNL.0000000000012285. Neurology. 2021. PMID: 34135078 Free PMC article.
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Butterfield RJ, Stevenson TJ, Xing L, Newcomb TM, Nelson B, Zeng W, Li X, Lu HM, Lu H, Farwell Gonzalez KD, Wei JP, Chao EC, Prior TW, Snyder PJ, Bonkowsky JL, Swoboda KJ. Butterfield RJ, et al. Among authors: bonkowsky jl. Neurology. 2014 Apr 15;82(15):1322-30. doi: 10.1212/WNL.0000000000000305. Epub 2014 Mar 19. Neurology. 2014. PMID: 24647030 Free PMC article.
Elevated Leukodystrophy Incidence Predicted From Genomics Databases.
Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL. Soderholm HE, et al. Among authors: bonkowsky jl. Pediatr Neurol. 2020 Oct;111:66-69. doi: 10.1016/j.pediatrneurol.2020.06.005. Epub 2020 Jun 17. Pediatr Neurol. 2020. PMID: 32951664 Free PMC article.
150 results