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Genetic Screening in Korean Patients with Frontotemporal Dementia Syndrome.
Kim EJ, Na DL, Kim HJ, Park KW, Lee JH, Roh JH, Kwon JC, Yoon SJ, Jung NY, Jeong JH, Jang JW, Kim HJ, Park KH, Choi SH, Kim S, Park YH, Kim BC, Youn YC, Ki CS, Kim SH, Seo SW, Kim YE. Kim EJ, et al. Among authors: kim bc, kim hj, kim sh, kim s, kim ye. J Alzheimers Dis Rep. 2022 Oct 21;6(1):651-662. doi: 10.3233/ADR-220030. eCollection 2022. J Alzheimers Dis Rep. 2022. PMID: 36447739 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: kim sh, kim bj, kim jw. 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.
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