李 宜中
临床神经研究团队
姓名 李 宜中
电子邮件 ycli@vghtpe.gov.tw
POSITION TITLE/AFFILIATIONS Attending Physician/ Departement of Neurology, Taipei Veterans General Hospital
Associate Professor/ Departement of Neurology, NYMU
EDUCATION/TRAINING 1989-1996 MD. National Yang-Ming University, Taipei, Taiwan
1999-2004 Resident in Neurology. Taipei Veterans General Hospital, Taipei, Taiwan
2003-2004 Research Volunteer in Molecular biology. Harvard Medical School affiliated Brigham and Women’s Hospital
2004-2008 PhD degree in Clinical Medicine. National Yang-Ming University
研究专长 Studies of mutations in GNB4, TFG and KCND3 causing Hereditary Motor Sensory Neuropathy (HMSN or CMT) and Spinocerebellar ataxia 22
简介

All my interests of research come from my patients with an inherited neurological disease. Usually, they cannot be cured. Elucidating the genetic causes of their diseases is fundamental for further attempt to help them. So the primary aim of my research is to find out the genetic causes of as many patients with inherited neurological diseases possible. Recently, we utilized exome sequencing to identify mutations in GNB4, TFG and KCND3 causing Hereditary Motor Sensory Neuropathy (HMSN or CMT) and Spinocerebellar ataxia 22, respectively. In the meantime, we are also interested in making clear the population-specific features of these inherited neurological disease. In the past few years, we had reported the mutational spectrum and clinical characteristics of HMSN, familial amyotrophic lateral sclerosis (ALS), cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), and paroxysmal kinesigenic dyskinesia (PKD).
年度 论文名称
2014 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 TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Neurology 2014 (accepted).
2014 Guo YC, Lin JJ, Liao YC, Tsai PC, Lee YC*, Soong BW*. Spinocerebellar ataxia 35: novel mutations in TGM6 with clinical and genetic characterization. Neurology 2014 (accepted).
2014 Soong BW, Lin KP, Guo YC, Lin CC, Tsai PC, Liao YC, Lu YC, Wang SJ, Tsai CP*, Lee YC*. Extensive molecular genetic survey of Taiwanese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2014:35:2423.e1-6.
2013 Tsai PC, Chen CH, Liu AB, Chen YC, Soong BW, Lin KP, Yet SF, Lee YC*. Mutational analysis of the 5’ non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth Neuropathy. J Neurol Sci 2013;332:51-55.
2013 Soong BW, Huang YH (co-first author), 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.
2013 Lee YC, Durr A, Majczenko K (co-first author), 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 KCND3 cause spinocerebellar ataxia type 22. Ann Neurol 2012;72:859-869.
2012 Tsai CP, Soong BW (co-first author), Tu PH, Lin KP, Fuh JL, Tsai PC, Lu YC, Lee IH, Lee YC*. A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan. Neurobiol Aging 2012;33:2232e11-8.
2012 Lee YC, Liu CS, Lee TY, Lo YC, Lu YC, Soong BW*. SCA31 is rare in the Chinese population on Taiwan. Neurobiol Aging 2012;33:426.e23-4.
2012 Lee YC*, Lee MJ, Yu HY, Chen C, Hsu CH, Lin KP, Liao KK, Chang MH, Liao YC, Soong BW*. PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort. PLoS One 2012;7:e38543.
2011 Tsai CP, Soong BW (co-first author), Lin KP, Tu PH, Lin JL, Lee YC*. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol Aging 2011;32:553.e13-21.
2011 Lee YC, Liao YC (co-first author), Wang PS, Lee IH, Lin KP, Soong BW. Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment. Mov Disorder 2011;26:2081-7.
2011 Lin KP, Soong BW (co-first author), Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC*. The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. PLoS One 2011;6(12): e29393.
2010 Lee YC, Lin KP, Chang MH, Liao YC, Tsai CP, Liao KK, Soong BW*. Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes. J Neurol 2010;257:1661-8.
2010 Lee YC, Lee TC, Lin KP, Lin MW, Chang MH, Soong BW*. Clinical characterization and genetic analysis of a possible novel type of dominant intermediate Charcot-Marie-Tooth disease. Neuromuscul Disord 2010;20:534-9.