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Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment.
Ramos DM, d'Ydewalle C, Gabbeta V, Dakka A, Klein SK, Norris DA, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Gupte N, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ. Ramos DM, et al. Among authors: d ydewalle c. J Clin Invest. 2019 Nov 1;129(11):4817-4831. doi: 10.1172/JCI124120. J Clin Invest. 2019. PMID: 31589162 Free PMC article. Clinical Trial.
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner CJ, d'Ydewalle C, Wooley J, Fawcett KA, Hernandez D, Gardiner AR, Kalmar B, Baloh RH, Gonzalez M, Züchner S, Stanescu HC, Kleta R, Mankodi A, Cornblath DR, Boylan KB, Reilly MM, Greensmith L, Singleton AB, Harms MB, Rossor AM, Houlden H. Sumner CJ, et al. Among authors: d ydewalle c. Am J Hum Genet. 2013 Nov 7;93(5):976-83. doi: 10.1016/j.ajhg.2013.10.006. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207122 Free PMC article.
Charcot-Marie-Tooth disease: emerging mechanisms and therapies.
d'Ydewalle C, Benoy V, Van Den Bosch L. d'Ydewalle C, et al. Int J Biochem Cell Biol. 2012 Aug;44(8):1299-304. doi: 10.1016/j.biocel.2012.04.020. Epub 2012 Apr 30. Int J Biochem Cell Biol. 2012. PMID: 22575637 Review.
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.
Benoy V, Van Helleputte L, Prior R, d'Ydewalle C, Haeck W, Geens N, Scheveneels W, Schevenels B, Cader MZ, Talbot K, Kozikowski AP, Vanden Berghe P, Van Damme P, Robberecht W, Van Den Bosch L. Benoy V, et al. Among authors: d ydewalle c. Brain. 2018 Mar 1;141(3):673-687. doi: 10.1093/brain/awx375. Brain. 2018. PMID: 29415205 Free PMC article.
16 results