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Duplications of 17q12 can cause familial fever-related epilepsy syndromes.
Hardies K, Weckhuysen S, Peeters E, Holmgren P, Van Esch H, De Jonghe P, Van Paesschen W, Suls A. Hardies K, et al. Among authors: peeters e. Neurology. 2013 Oct 15;81(16):1434-40. doi: 10.1212/WNL.0b013e3182a84163. Epub 2013 Sep 18. Neurology. 2013. PMID: 24049133
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans.
Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, Laird AS, Peeters E, Philips T, Goris A, Dubois B, Andersen PM, Al-Chalabi A, Thijs V, Turnley AM, van Vught PW, Veldink JH, Hardiman O, Van Den Bosch L, Gonzalez-Perez P, Van Damme P, Brown RH Jr, van den Berg LH, Robberecht W. Van Hoecke A, et al. Among authors: peeters e. Nat Med. 2012 Sep;18(9):1418-22. doi: 10.1038/nm.2901. Nat Med. 2012. PMID: 22922411
345 results