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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms.
Chung HL, Wangler MF, Marcogliese PC, Jo J, Ravenscroft TA, Zuo Z, Duraine L, Sadeghzadeh S, Li-Kroeger D, Schmidt RE, Pestronk A, Rosenfeld JA, Burrage L, Herndon MJ, Chen S; Members of Undiagnosed Diseases Network; Shillington A, Vawter-Lee M, Hopkin R, Rodriguez-Smith J, Henrickson M, Lee B, Moser AB, Jones RO, Watkins P, Yoo T, Mar S, Choi M, Bucelli RC, Yamamoto S, Lee HK, Prada CE, Chae JH, Vogel TP, Bellen HJ. Chung HL, et al. Among authors: chae jh. Neuron. 2020 May 20;106(4):589-606.e6. doi: 10.1016/j.neuron.2020.02.021. Epub 2020 Mar 12. Neuron. 2020. PMID: 32169171 Free PMC article.
Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
Min Ko J, Cho JS, Yoo Y, Seo J, Choi M, Chae JH, Lee HR, Cho TJ. Min Ko J, et al. Among authors: chae jh. J Child Neurol. 2017 Feb;32(2):237-242. doi: 10.1177/0883073816674095. Epub 2016 Oct 24. J Child Neurol. 2017. PMID: 27777327
Biallelic mutations in ABCB1 display recurrent reversible encephalopathy.
Seo J, Lee CR, Paeng JC, Kwon HW, Lee D, Kim SC, Han J, Ku JL, Chae JH, Lim BC, Choi M. Seo J, et al. Among authors: chae jh. Ann Clin Transl Neurol. 2020 Aug;7(8):1443-1449. doi: 10.1002/acn3.51125. Epub 2020 Jul 5. Ann Clin Transl Neurol. 2020. PMID: 32627353 Free PMC article.
464 results