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Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Tao F, Beecham GW, Rebelo AP, Svaren J, Blanton SH, Moran JJ, Lopez-Anido C, Morrow JM, Abreu L, Rizzo D, Kirk CA, Wu X, Feely S, Verhamme C, Saporta MA, Herrmann DN, Day JW, Sumner CJ, Lloyd TE, Li J, Yum SW, Taroni F, Baas F, Choi BO, Pareyson D, Scherer SS, Reilly MM, Shy ME, Züchner S; Inherited Neuropathy Consortium. Tao F, et al. Among authors: choi bo. Ann Neurol. 2019 Mar;85(3):316-330. doi: 10.1002/ana.25426. Ann Neurol. 2019. PMID: 30706531 Free PMC article.
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW. Kim HJ, et al. Among authors: choi bo. Am J Hum Genet. 2007 Sep;81(3):552-8. doi: 10.1086/519529. Epub 2007 Jun 29. Am J Hum Genet. 2007. PMID: 17701900 Free PMC article.
Charcot-marie-tooth disease: seventeen causative genes.
Lee JH, Choi BO. Lee JH, et al. Among authors: choi bo. J Clin Neurol. 2006 Jun;2(2):92-106. doi: 10.3988/jcn.2006.2.2.92. Epub 2006 Jun 20. J Clin Neurol. 2006. PMID: 20396492 Free PMC article.
Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication.
Kim YH, Chung HK, Park KD, Choi KG, Kim SM, Sunwoo IN, Choi YC, Lim JG, Lee KW, Kim KK, Lee DK, Joo IS, Kwon KH, Gwon SB, Park JH, Kim DS, Kim SH, Kim WK, Suh BC, Kim SB, Kim NH, Sohn EH, Kim OJ, Kim HS, Cho JH, Kang SY, Park CI, Oh J, Shin JH, Chung KW, Choi BO. Kim YH, et al. Among authors: choi kg, choi bo, choi yc. J Clin Neurol. 2012 Jun;8(2):139-45. doi: 10.3988/jcn.2012.8.2.139. Epub 2012 Jun 29. J Clin Neurol. 2012. PMID: 22787498 Free PMC article.
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3.
Nakhro K, Park JM, Hong YB, Park JH, Nam SH, Yoon BR, Yoo JH, Koo H, Jung SC, Kim HL, Kim JY, Choi KG, Choi BO, Chung KW. Nakhro K, et al. Among authors: choi kg, choi bo. Neurology. 2013 Jul 9;81(2):165-73. doi: 10.1212/WNL.0b013e31829a3421. Epub 2013 Jun 7. Neurology. 2013. PMID: 23749797
751 results