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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. Among authors: gerrits mm. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub 2011 Jun 22. Ann Neurol. 2012. PMID: 21698661 Clinical Trial.
Genetic aspects of sodium channelopathy in small fiber neuropathy.
Hoeijmakers JG, Merkies IS, Gerrits MM, Waxman SG, Faber CG. Hoeijmakers JG, et al. Among authors: gerrits mm. Clin Genet. 2012 Oct;82(4):351-8. doi: 10.1111/j.1399-0004.2012.01937.x. Epub 2012 Aug 7. Clin Genet. 2012. PMID: 22803682 Review.
Gain-of-function Nav1.8 mutations in painful neuropathy.
Faber CG, Lauria G, Merkies IS, Cheng X, Han C, Ahn HS, Persson AK, Hoeijmakers JG, Gerrits MM, Pierro T, Lombardi R, Kapetis D, Dib-Hajj SD, Waxman SG. Faber CG, et al. Among authors: gerrits mm. Proc Natl Acad Sci U S A. 2012 Nov 20;109(47):19444-9. doi: 10.1073/pnas.1216080109. Epub 2012 Oct 31. Proc Natl Acad Sci U S A. 2012. PMID: 23115331 Free PMC article.
64 results