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A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. Pareyson D, et al. Among authors: murakami t. Ann Neurol. 2019 Jul;86(1):55-67. doi: 10.1002/ana.25500. Epub 2019 May 27. Ann Neurol. 2019. PMID: 31070812 Free PMC article.
Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y. Murakami T, et al. J Neurol Sci. 2013 Nov 15;334(1-2):176-9. doi: 10.1016/j.jns.2013.08.001. Epub 2013 Aug 9. J Neurol Sci. 2013. PMID: 23962696
A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.
Shirakawa S, Murakami T, Hashiguchi A, Takashima H, Hasegawa H, Ichida K, Sunada Y. Shirakawa S, et al. Among authors: murakami t. Intern Med. 2022 Jun 1;61(11):1749-1751. doi: 10.2169/internalmedicine.8029-21. Epub 2021 Nov 20. Intern Med. 2022. PMID: 34803094 Free PMC article.
[Collier's sign in Miller Fisher syndrome].
Miyaishi M, Hemmi S, Hagiwara H, Murakami T, Sunada Y. Miyaishi M, et al. Among authors: murakami t. Rinsho Shinkeigaku. 2006 Oct;46(10):712-4. Rinsho Shinkeigaku. 2006. PMID: 17323781 Japanese.
5,681 results