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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: jones ro. 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.
Dataset for a case report of a homozygous PEX16 F332del mutation.
Bacino C, Chao YH, Seto E, Lotze T, Xia F, Jones RO, Moser A, Wangler MF. Bacino C, et al. Among authors: jones ro. Data Brief. 2015 Dec 17;6:722-7. doi: 10.1016/j.dib.2015.12.011. eCollection 2016 Mar. Data Brief. 2015. PMID: 26870756 Free PMC article.
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.
Ventura MJ, Wheaton D, Xu M, Birch D, Bowne SJ, Sullivan LS, Daiger SP, Whitney AE, Jones RO, Moser AB, Chen R, Wangler MF. Ventura MJ, et al. Among authors: jones ro. Mol Genet Metab Rep. 2016 Nov 11;9:75-78. doi: 10.1016/j.ymgmr.2016.10.006. eCollection 2016 Dec. Mol Genet Metab Rep. 2016. PMID: 27872819 Free PMC article.
Antioxidant Capacity and Superoxide Dismutase Activity in Adrenoleukodystrophy.
Turk BR, Theisen BE, Nemeth CL, Marx JS, Shi X, Rosen M, Jones RO, Moser AB, Watkins PA, Raymond GV, Tiffany C, Fatemi A. Turk BR, et al. Among authors: jones ro. JAMA Neurol. 2017 May 1;74(5):519-524. doi: 10.1001/jamaneurol.2016.5715. JAMA Neurol. 2017. PMID: 28288261 Free PMC article.
A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers.
Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. Wangler MF, et al. Among authors: jones ro. Genet Med. 2018 Oct;20(10):1274-1283. doi: 10.1038/gim.2017.262. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419819 Free PMC article.
192 results