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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 2
2005 1
2006 1
2007 1
2008 1
2009 1
2011 2
2012 2
2013 2
2014 7
2015 6
2016 4
2017 3
2018 2
2020 1
2022 1
2024 0

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34 results

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Page 1
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.
n-3 Fatty Acid Supplementation for the Treatment of Dry Eye Disease.
Dry Eye Assessment and Management Study Research Group; Asbell PA, Maguire MG, Pistilli M, Ying GS, Szczotka-Flynn LB, Hardten DR, Lin MC, Shtein RM. Dry Eye Assessment and Management Study Research Group, et al. N Engl J Med. 2018 May 3;378(18):1681-1690. doi: 10.1056/NEJMoa1709691. Epub 2018 Apr 13. N Engl J Med. 2018. PMID: 29652551 Free PMC article. Clinical Trial.
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.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A. Armangue T, et al. Among authors: jones ro. Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20. Mol Genet Metab. 2017. PMID: 28739201 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.
Newborn Screening for X-Linked Adrenoleukodystrophy.
Moser AB, Jones RO, Hubbard WC, Tortorelli S, Orsini JJ, Caggana M, Vogel BH, Raymond GV. Moser AB, et al. Among authors: jones ro. Int J Neonatal Screen. 2016 Dec;2(4):15. doi: 10.3390/ijns2040015. Epub 2016 Dec 6. Int J Neonatal Screen. 2016. PMID: 31467997 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.
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.
34 results