{"id":116,"date":"2025-06-24T02:57:48","date_gmt":"2025-06-24T02:57:48","guid":{"rendered":"https:\/\/genoinfocore.crc.nycu.edu.tw\/?p=116"},"modified":"2025-07-01T05:33:59","modified_gmt":"2025-07-01T05:33:59","slug":"%e5%b0%88%e5%ae%b6%e7%b0%a1%e4%bb%8b%ef%bc%9a%e8%94%a1%e6%af%93%e8%88%9c","status":"publish","type":"post","link":"https:\/\/genoinfocore.crc.nycu.edu.tw\/?p=116","title":{"rendered":"\u5c08\u5bb6\u7c21\u4ecb\uff1a\u8521\u6bd3\u821c"},"content":{"rendered":"\n
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1. Fang SY, Chou YT, Hsu KC, Hsu SL, Yu KW, Tsai YS, Liao YC, Tsai PC, Lee YC. Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia. Ann Clin Transl Neurol. 2023 Mar; 10(3):353-362.
2. Chao HC, Hsiao CT, Lai KL, Tsai YS, Lin KP, Liao YC, Lee YC. Clinical and genetic characterization of NEFL-related neuropathy in Taiwan. J Formos Med Assoc. 2023 Feb; 122(2):132-138.
3. Lee YH, Lee YC, Tsai YS, Yang UC, Cheng TH, Chern Y, Soong BW. Reply to: \u201cLow Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders\u201d. Mov Disord. 2022 Oct; 37(10):2169.
4. Hsu SL, Liao YC, Lin KP, Lin PY, Yu KW, Tsai YS, Guo YC, Lee YC. Investigating KIF1A mutations in a Taiwanese cohort with hereditary spastic paraplegia. Parkinsonism Relat Disord. 2022 Oct; 103:144-149.
5. Tsai YS, Chang YM, Lim YM, Cheong SK, Chung IF, Wong CY. Generating transcriptional regulatory networks from time-ordered stem cell differentiation RNA sequencing data. STAR Protoc. 2022 Aug; 3(3):101541
6. Lee YH, Tsai YS, Chang CC, Ho CC, Shih HM, Chen HM, Lai HL, Lee CW, Lee YC, Liao YC, Yang UC, Cheng TH, Chern Y, Soong BW (2021, Dec). A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis. Movement Disorder, doi: 10.1002\/mds.28896.
7. Tsai PC, Fuh JL, Yang CC, Chang A, Lien LM, Wang PN, Lai KL, Tsai YS, Lee YC, Liao YC (2021, Nov). Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations. Ann Clin Transl Neurol. 8(11):2121-2131. doi: 10.1002\/acn3.51467.
8. Hsu SL, Chen YH, Chou CT, Chou YT, Tsai YS, Hsiao CT, Liao YC, Lee YC (2021, Nov). Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype. Parkinsonism Relat Disord. 92:7-12. doi: 10.1016\/j.parkreldis.2021.10.006.
9. Chiang HL, Fuh JL, Tsai YS, Soong BW, Liao YC, Lee YC (2021, Sep). Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia. J Neurol Sci.428:117600. doi: 10.1016\/j.jns.2021.117600.
10. Hsu SL, Hsueh HW, Chen SY, Chang YY, Tan S, Hong CT, Tsai YS, Yu KW, Wu HM, Liao YC, Soong BW, Hu CJ, Lan MY, Lee YC (2021, Jun). Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan. Parkinsonism Relat Disord. 87:87-91. doi: 10.1016\/j.parkreldis.2021.05.004.<\/p>\n\n\n\n

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