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Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1.
Eichler FS, Hornemann T, McCampbell A, Kuljis D, Penno A, Vardeh D, Tamrazian E, Garofalo K, Lee HJ, Kini L, Selig M, Frosch M, Gable K, von Eckardstein A, Woolf CJ, Guan G, Harmon JM, Dunn TM, Brown RH Jr. Eichler FS, et al. J Neurosci. 2009 Nov 18;29(46):14646-51. doi: 10.1523/JNEUROSCI.2536-09.2009. J Neurosci. 2009. PMID: 19923297 Free PMC article.
Pathophysiology of X-linked adrenoleukodystrophy.
Berger J, Forss-Petter S, Eichler FS. Berger J, et al. Among authors: eichler fs. Biochimie. 2014 Mar;98(100):135-42. doi: 10.1016/j.biochi.2013.11.023. Epub 2013 Dec 4. Biochimie. 2014. PMID: 24316281 Free PMC article. Review.
Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
Musolino PL, Gong Y, Snyder JM, Jimenez S, Lok J, Lo EH, Moser AB, Grabowski EF, Frosch MP, Eichler FS. Musolino PL, et al. Among authors: eichler fs. Brain. 2015 Nov;138(Pt 11):3206-20. doi: 10.1093/brain/awv250. Epub 2015 Sep 15. Brain. 2015. PMID: 26377633 Free PMC article.
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
Gong Y, Sasidharan N, Laheji F, Frosch M, Musolino P, Tanzi R, Kim DY, Biffi A, El Khoury J, Eichler F. Gong Y, et al. Among authors: eichler f. Ann Neurol. 2017 Nov;82(5):813-827. doi: 10.1002/ana.25085. Epub 2017 Nov 11. Ann Neurol. 2017. PMID: 29059709 Free PMC article.
Clinical myopathy in patients with nephropathic cystinosis.
Sadjadi R, Sullivan S, Grant N, Thomas SE, Doyle M, Hammond C, Duong R, Corre C, David W, Eichler F. Sadjadi R, et al. Among authors: eichler f. Muscle Nerve. 2020 Jan;61(1):74-80. doi: 10.1002/mus.26726. Epub 2019 Oct 24. Muscle Nerve. 2020. PMID: 31588568 Free article.
155 results