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De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ. Blanchard MG, et al. Among authors: bindels rj. J Med Genet. 2015 May;52(5):330-7. doi: 10.1136/jmedgenet-2014-102813. Epub 2015 Feb 27. J Med Genet. 2015. PMID: 25725044 Free PMC article.
A novel KCNA1 mutation causing episodic ataxia type I.
Lassche S, Lainez S, Bloem BR, van de Warrenburg BP, Hofmeijer J, Lemmink HH, Hoenderop JG, Bindels RJ, Drost G. Lassche S, et al. Among authors: bindels rj. Muscle Nerve. 2014 Aug;50(2):289-91. doi: 10.1002/mus.24242. Epub 2014 Jul 14. Muscle Nerve. 2014. PMID: 24639406
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG. Arjona FJ, et al. Among authors: bindels rj. PLoS Genet. 2014 Apr 3;10(4):e1004267. doi: 10.1371/journal.pgen.1004267. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24699222 Free PMC article.
Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV. de Baaij JH, et al. Among authors: bindels rj. Nephrol Dial Transplant. 2015 Jun;30(6):952-7. doi: 10.1093/ndt/gfv014. Epub 2015 Mar 11. Nephrol Dial Transplant. 2015. PMID: 25765846 Free article.
356 results