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Peripheral Ion Channel Gene Screening in Painful- and Painless-Diabetic Neuropathy.
Ślęczkowska M, Almomani R, Marchi M, de Greef BTA, Sopacua M, Hoeijmakers JGJ, Lindsey P, Salvi E, Bönhof GJ, Ziegler D, Malik RA, Waxman SG, Lauria G, Faber CG, Smeets HJM, Gerrits MM. Ślęczkowska M, et al. Among authors: faber cg. Int J Mol Sci. 2022 Jun 28;23(13):7190. doi: 10.3390/ijms23137190. Int J Mol Sci. 2022. PMID: 35806193 Free PMC article.
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG. Braida C, et al. Among authors: faber cg. Hum Mol Genet. 2010 Apr 15;19(8):1399-412. doi: 10.1093/hmg/ddq015. Epub 2010 Jan 15. Hum Mol Genet. 2010. PMID: 20080938
Gain of function Naν1.7 mutations in idiopathic small fiber neuropathy.
Faber CG, Hoeijmakers JG, Ahn HS, Cheng X, Han C, Choi JS, Estacion M, Lauria G, Vanhoutte EK, Gerrits MM, Dib-Hajj S, Drenth JP, Waxman SG, Merkies IS. Faber CG, et al. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun 22. Ann Neurol. 2012. PMID: 21698661 Clinical Trial.
251 results