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ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy.
Park HJ, Hong YB, Choi YC, Lee J, Kim EJ, Lee JS, Mo WM, Ki SM, Kim HI, Kim HJ, Hyun YS, Hong HD, Nam K, Jung SC, Kim SB, Kim SH, Kim DH, Oh KW, Kim SH, Yoo JH, Lee JE, Chung KW, Choi BO. Park HJ, et al. Among authors: kim sb, kim hi, kim hj, kim dh, kim ej, kim sh. Ann Neurol. 2016 Feb;79(2):231-43. doi: 10.1002/ana.24550. Epub 2015 Dec 15. Ann Neurol. 2016. PMID: 26506222
Human Induced Pluripotent Stem Cell-Derived TDP-43 Mutant Neurons Exhibit Consistent Functional Phenotypes Across Multiple Gene Edited Lines Despite Transcriptomic and Splicing Discrepancies.
Smith AST, Chun C, Hesson J, Mathieu J, Valdmanis PN, Mack DL, Choi BO, Kim DH, Bothwell M. Smith AST, et al. Among authors: kim dh. Front Cell Dev Biol. 2021 Sep 29;9:728707. doi: 10.3389/fcell.2021.728707. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34660586 Free PMC article.
HDAC6 Inhibition Corrects Electrophysiological and Axonal Transport Deficits in a Human Stem Cell-Based Model of Charcot-Marie-Tooth Disease (Type 2D).
Smith AST, Kim JH, Chun C, Gharai A, Moon HW, Kim EY, Nam SH, Ha N, Song JY, Chung KW, Doo HM, Hesson J, Mathieu J, Bothwell M, Choi BO, Kim DH. Smith AST, et al. Among authors: kim ey, kim dh, kim jh. Adv Biol (Weinh). 2022 Feb;6(2):e2101308. doi: 10.1002/adbi.202101308. Epub 2021 Dec 26. Adv Biol (Weinh). 2022. PMID: 34958183 Free PMC article.
Novel Adult-Onset Systolic Cardiomyopathy Due to MYH7 E848G Mutation in Patient-Derived Induced Pluripotent Stem Cells.
Yang KC, Breitbart A, De Lange WJ, Hofsteen P, Futakuchi-Tsuchida A, Xu J, Schopf C, Razumova MV, Jiao A, Boucek R, Pabon L, Reinecke H, Kim DH, Ralphe JC, Regnier M, Murry CE. Yang KC, et al. Among authors: kim dh. JACC Basic Transl Sci. 2018 Dec 31;3(6):728-740. doi: 10.1016/j.jacbts.2018.08.008. eCollection 2018 Dec. JACC Basic Transl Sci. 2018. PMID: 30623132 Free PMC article.
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