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ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19.
Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G; JaCALS; Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S. Takahashi Y, et al. Among authors: nicholson ga. Am J Hum Genet. 2013 Nov 7;93(5):900-5. doi: 10.1016/j.ajhg.2013.09.008. Epub 2013 Oct 10. Am J Hum Genet. 2013. PMID: 24119685 Free PMC article.
Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis.
Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, de Belleroche JS, Esteban J, Hayward LJ, Mckenna-Yasek D, Yeung L, Cherryson AK, Dench JE, Wilton SD, Laing NG, Horvitz HR, Brown RH Jr. Hosler BA, et al. Among authors: nicholson ga. Neuromuscul Disord. 1996 Oct;6(5):361-6. doi: 10.1016/0960-8966(96)00353-7. Neuromuscul Disord. 1996. PMID: 8938700
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).
Chen YZ, Bennett CL, Huynh HM, Blair IP, Puls I, Irobi J, Dierick I, Abel A, Kennerson ML, Rabin BA, Nicholson GA, Auer-Grumbach M, Wagner K, De Jonghe P, Griffin JW, Fischbeck KH, Timmerman V, Cornblath DR, Chance PF. Chen YZ, et al. Among authors: nicholson ga. Am J Hum Genet. 2004 Jun;74(6):1128-35. doi: 10.1086/421054. Epub 2004 Apr 21. Am J Hum Genet. 2004. PMID: 15106121 Free PMC article.
244 results