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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.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Köhler W, Engelen M, Eichler F, Lachmann R, Fatemi A, Sampson J, Salsano E, Gamez J, Molnar MJ, Pascual S, Rovira M, Vilà A, Pina G, Martín-Ugarte I, Mantilla A, Pizcueta P, Rodríguez-Pascau L, Traver E, Vilalta A, Pascual M, Martinell M, Meya U, Mochel F; ADVANCE Study Group. Köhler W, et al. Lancet Neurol. 2023 Feb;22(2):127-136. doi: 10.1016/S1474-4422(22)00495-1. Lancet Neurol. 2023. PMID: 36681445 Clinical Trial.
Natural history and biomarkers in hereditary sensory neuropathy type 1.
Fridman V, Oaklander AL, David WS, Johnson EA, Pan J, Novak P, Brown RH Jr, Eichler FS. Fridman V, et al. Among authors: eichler fs. Muscle Nerve. 2015 Apr;51(4):489-95. doi: 10.1002/mus.24336. Epub 2015 Feb 11. Muscle Nerve. 2015. PMID: 25042817 Free PMC article.
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.
114 results