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An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains.
Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H. Ishikawa K, et al. Among authors: murayama s. Am J Hum Genet. 2005 Aug;77(2):280-96. doi: 10.1086/432518. Epub 2005 Jul 6. Am J Hum Genet. 2005. PMID: 16001362 Free PMC article.
Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H. Sato N, et al. Among authors: murayama s. Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878914 Free PMC article.
Neuropathologic analysis of Lewy-related α-synucleinopathy in olfactory mucosa.
Funabe S, Takao M, Saito Y, Hatsuta H, Sugiyama M, Ito S, Kanemaru K, Sawabe M, Arai T, Mochizuki H, Hattori N, Murayama S. Funabe S, et al. Among authors: murayama s. Neuropathology. 2013 Feb;33(1):47-58. doi: 10.1111/j.1440-1789.2012.01329.x. Epub 2012 Jun 4. Neuropathology. 2013. PMID: 22672612
The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement.
Ishiura H, Sako W, Yoshida M, Kawarai T, Tanabe O, Goto J, Takahashi Y, Date H, Mitsui J, Ahsan B, Ichikawa Y, Iwata A, Yoshino H, Izumi Y, Fujita K, Maeda K, Goto S, Koizumi H, Morigaki R, Ikemura M, Yamauchi N, Murayama S, Nicholson GA, Ito H, Sobue G, Nakagawa M, Kaji R, Tsuji S. Ishiura H, et al. Among authors: murayama s. Am J Hum Genet. 2012 Aug 10;91(2):320-9. doi: 10.1016/j.ajhg.2012.07.014. Am J Hum Genet. 2012. PMID: 22883144 Free PMC article.
Lewy body pathology in a patient with a homozygous parkin deletion.
Miyakawa S, Ogino M, Funabe S, Uchino A, Shimo Y, Hattori N, Ichinoe M, Mikami T, Saegusa M, Nishiyama K, Mori H, Mizuno Y, Murayama S, Mochizuki H. Miyakawa S, et al. Among authors: murayama s. Mov Disord. 2013 Mar;28(3):388-91. doi: 10.1002/mds.25346. Epub 2013 Feb 11. Mov Disord. 2013. PMID: 23401296
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: murayama s. 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.
1,178 results