媒體影音報導:
1. 北榮找到「腦中風突變基因」 台灣人約1%有此基因 (公視晚間新聞2020年12月14日)
https://www.youtube.com/watch?v=fQGQjGnMSWA
2. 北榮找到台灣人特有腦中風突變基因...這種人要注意! (TVBS新聞台十點不一樣2020年12月22日)
https://www.youtube.com/watch?v=rX-7PQB_hlI
3. FAP 家族性澱粉樣多發性神經病變 見曙光 (雲端保健室第19集2022年03月02日)
https://www.youtube.com/watch?v=dA7iTJhE-4E&t=1302s
4. 百岳高手卻突走路不穩!手腳發麻無力四處求醫卻找不出病因...後發現竟是罹患罕見疾病FAP
(三立新聞台【台灣亮起來】2021年9月26日)
https://www.youtube.com/watch?v=AzkrXRTJ3bg
5. 家有罕病兒,父母當如何?基因檢測等病症出現再驗?正向心態和支持何處尋?
(顏肩肱肌肉萎縮症) 黃瑽寧愛+好醫生
https://www.youtube.com/watch?v=pvFkb2jShAY
6. 運動感覺神經病變 肇因基因突變 (公視晚間新聞 2013年4月8日)
https://www.youtube.com/watch?v=BEeOr5Sn8q8
7. 確診「漸凍症」逐漸喪失生活自理能力 (TVBS新聞 2017年9月6日)
https://www.youtube.com/watch?v=UlRsWt53SaE
論文發表:
- Liu YH, Chou YT, Chang FP, Lee WJ, Guo YC, Chou CT, Huang HC, Mizuguchi T, Chou CC, Yu HY, Yu KW, Wu HM, Tsai PC, Matsumoto N, Lee YC*, Liao YC*. Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy. Brain 2022;145(9):3010-21.
- Liao YC, Chang FP, Huang HW, Chen TB, Chou YT, Hsu SL, Jih K, Liu YH, Hsiao CT, Fukukda H, Mizuguchi T, Lin KK, Lin CK, Matsumoto N, Kennerson M, Lee YC*. GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies. Neurology 2022;98(2):e199-e206t.
- Liao YC, Hu YC, Chung CP, Wang YF, Guo YC, Tsai YS, LeeYC*. Intracerebral hemorrhage in CADASIL: prevalence, clinical and neuroimaging features and risk factors. Stroke 2021;52(3):985-993.
- Lee YC, Chung CP, Chang MH, Wang SJ, Liao YC*. NOTCH3 cysteine-altering variant is an important risk factor for stroke in Taiwanese population. Neurology 2020;94(1):e87-e96.
- Lee YC, Chung CP, Chao NC, Fuh JL, Chang FC, Soong BW, Liao YC*. Characterization of heterozygous HTRA1 mutations in Taiwanese patients with cerebral small vessel disease. Stroke 2018;49:1593-1601.
- Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC*, Züchner S, Baets J, Lee YC*. A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy. Brain 2017;140:1252-66.
- Tsai PC, Huang YH, Guo YC, Wu HT, Lin KP, Tsai YS, Liao YC, Liu YT, Liu TT, Kao LS, Yet SF, Fann MJ, Soong BW*, Lee YC*. A novel TFGmutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Neurology 2014;83:903-12.
- Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS*, Lee YC*. Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am J Hum Genet 2013;92(3):422-430.
- Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M*, Stevanin G*, Soong BW*. Mutations in KCND3cause spinocerebellar ataxia type 22. Ann Neurol 2012;72:859-869.
- Lee WJ, Chang LB, Lee YC*. Incidental Findings on Brain MRI in general population. N Engl J Med 2008;358:853-4.
- Lee YC, Yu CTR, Lin KP, Chang MH, Hsu SL, Liu YF, Lu YC, Soong BW*. MPZmutation G123S characterization; evidence for a complex pathogenesis in CMT disease. Neurology 2008;70:273-7.