臺灣基因治療學會_理事

理事梁文貞

專業證照
  • 兒科專科
  • 小兒神經專科
學歷
  • 高雄醫學大學醫學研究所
經歷
  1. 高雄醫學大學附設醫院小兒部小兒神經科主治醫師
專長領域
  1. 神經肌肉疾病 (含下運動神經元疾病及各式肌病變)
  2. 一般小兒神經疾病
  3. 基因學
  4. 神經肌肉疾病藥物臨床試驗
專業著作
  • Liang WC, Tsai KB, Jong YJ*. Riboflavin responsive glutaric aciduria type II associated with recurrent pancreatitis. Pediatr Neurol 2004;31:218-21. (SCI)
  • Chou HF, Yen CM, Liang WC, Jong YJ*. Diphyllobothriasis latum: the first child case report in Taiwan. Kaohsiung J Med Sci 2006;22:346-51.
  • Liang WC, Yuo CY, Liu CY, Lee CS, Hayashi YK, Goto K, Jong YJ*. A Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. J Formos Med Assoc 2007;106(2 Suppl):S27-31. (SCI)
  • Liang WC, Yuo CY, Chang JG, Chen YC, Change YF, Wang HY, Ju YH, Chiou SS, Jong YJ*. The effect of hydroxyurea in spinal muscular atrophy cells and patients. J Neurol Sci 2008;268:87-94. (SCI)
  • Chou HF,Liang WC, Zhang Q, Goto Y, Jong YJ*. Clinical and genetic features in a MELAS child with 3271T>C mutation. Pediatr Neurol 2008;38:143-146. (SCI)
  • Liang WC, Ohkuma A, Hayashi YK, López LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ*, Nishino I*. ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord 2009;19:212-6. (SCI)
  • Er TK, Liang WC, Chang JG, Jong YJ*. High resolution melting analysis facilitates mutation screening of ETFDH gene: applications in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.Clin Chim Acta 2010;411:690-9. (SCI)
  • Chen TH#, Chang JG#, Yang YH, Mai HH, Liang WC, Wu YC, Wang HY, Huang YB, Wu SM, Chen YC, Yang SN, Jong YJ*. A randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy. Neurology 2010;75:2190-7. (SCI)
  • Liang WC, Nishino I*. State of the art in muscle lipid diseases. Acta Myologica 2010;29:351-6. Review
  • Liang WC, Nishino I*. Lipid storage myopathy. Curr Neurol Neurosci Rep 2011;11:97-103. (SCI) Review
  • Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK*. TMEM43 Mutations in Emery-Dreifuss Muscular Dystrophy-related Myopathy. Ann Neurol 2011;69:1005-1013. (SCI)
  • Er TK, Chen CC, Liang WC, Liu TC, Chang JG, Jong YJ*.Identification a novel missense mutation p.F128S in a Taiwanese patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Clin Chem Lab Med 2011;49:S602. (SCI)
  • Er TK, Liang WC, Chang JG, Jong YJ*. Identification of ETFDH gene mutations using high-resolution melting analysis. Clin Chem Lab Med 2011;49:S602. (SCI)
  • Sugai F*, Baba K, Toyooka K, Liang WC, Nishino I, Yamadera M, Sumi H, Fujimura H, Nishikawa Y.Adult-onset multiple acyl CoA dehydrogenation deficiency associated with anabnormal isoenzyme pattern of serum lactate dehydrogenase. Neuromuscul Disord 2012;22:159-161. (SCI)
  • Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I*. Muscle glycogen storage disease type 0 presenting recurrent syncope with weakness and myalgia. Neuromuscul Disord 2012;22:162-165. (SCI)
  • Wang CH,Leung M, Liang WC, Hsieh TJ, Chen TH, Jong YJ*. Correlation between Muscle Involvement, Phenotype and D4Z4 Fragment Size in Facioscapulohumeral Muscular Dystrophy. Neuromuscul Disord2012;22:331-338. (SCI)
  • Wang CH*, Liang WC, Su YN, Lee WC, Su CC, Jong YJ. Manifesting pediatric carrier of isolated dystrophinopathy with initial presentation of myalgia and persistent hyper-CKemia.Pediatr Neonatol 2012;53:274-277. (SCI)
  • Chen TH, Lai YH, Lee PL, Hsu JH, Goto K, Hayashi YK, Nishino I, Lin CW, Shih HH, Huang CC, Liang WC, Wang WF, Jong YJ*. Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment. Neuromuscul Disord 2013;23:298-305. (SCI)
  • Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ*. Intranuclear Rods Myopathy with Autonomic Dysfunction. Brain Dev 2013;35:686-689. (SCI)
  • Liang WC, Nishino I*. Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients.J Neurol Neurosurg Psychiatry2013;84:591. (SCI)
  • Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ*. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. Neuromuscul Disord 2013;23:675-681. (SCI)
  • Liang WC, Nishino I*.Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency - frequent condition in Southern Chinese population. Neurol Clin Neurosci 2013;1:163-167.
  • Er TK, Chen CC, Chien YH, Liang WC, Kan TM, Jong YJ*. Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease. Clinica Chimica Acta 2014;429:18-25. (SCI)
  • Chen YC, Liang WC*, Su YN, Jong YJ.Pelizaeus-Merzbacher disease, easily misdiagnosed as cerebral palsy: a report of a three-generation family.Pediatr Neonatol 2014;55:150-3. (SCI)
  • Chen TH, Hsu JH, Wu JR, Dai ZK, Chen IC, Liang WC, Yang SN, Jong YJ*. Combined noninvasive ventilation and mechanical in-exsufflator in the treatment of pediatric acute neuromuscular respiratory failure: a case series study. Pediatric Pulmonology 2014;49: 589-96. (SCI)
  • Chen TH, Yang YH, Mai HH, Liang WC, Wu YC, Wang HY, Jong YJ*. Reliability and validity of outcome measures of in-Hospital and at-home bisits in a randomized, double-blind,pPlacebo-controlled trial for spinal muscular atrophy.J Child Neurol 2014;29:1680-4. (SCI)
  • Wang CH, Liang WC, Minami N, Nishino I, Jong YJ*. The first report of limb-girdle muscular dystrophy type 2A in Taiwan with a novel mutation in CAPN3. Pediatr Neonatol 2015;56:62-65. (SCI)
  • Tian X#, Liang WC#, Feng Y#, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, Hsu YY, Lin TS, Chen WT, Wong LJ*, and Jong YJ*. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurology: Genetics2015;1:e14
  • Liang WC#, Zhu W#, Mitsuhashi S*, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I. Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype. Skeletal Muscle 2015;5:29. (SCI)
  • Tsai HJ, Liang WC*, Wang CH, Chou PC, Hsu JH, Huang CT, Jong YJ.Botulism with Unusual Rapid Progression to Complete Paralysis in a Child.Pediatr Neonatol 2015;56:425-8. (SCI)
  • Liang WC, Chou PC, Kan TM, Su YM, Chen WZ, Hayashi YK, Nishino I, Jong YJ*.Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. J Neurol Sci 2016;362:304-308. (SCI)
  • Liang WC#, Uruha A#, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I*. Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.Rheumatology (Oxford) 2017;56:287-293.(SCI)
  • Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ*. Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors. Muscle Nerve 2017;56:479-485. (SCI)
  • Liang WC, Tian X, You CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LJC, Jong YJ*.Comprehensive target capture/next generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One2017;12(2):e0170517.(SCI)
  • Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC; ENDEAR Study Group (Liang WC). Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.N Engl J Med 2017;377:1723-1732. (SCI)
  • Liang WC, Wang CH, Chou PC, Chen WZ, Jong YJ.*. The nature history of the patients with Duchenne muscular dystrophy in Taiwan: a medical center experience. Pediatr Neonatol 2018;59:176-183. (SCI)
  • Wada E, Kato M, Yamashita K, Kokuba H, Liang WC, Bonne G, Hayashi YK*. Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice. PLoS One 2019;14(8):e0221512 (SCI)
  • Chen TH, Liang WC, Chen IC, Liu YC, Hsu JH, Jong YJ. Combined noninvasive ventilation and mechanical insufflator–exsufflator for acute respiratory failure in patients with neuromuscular disease: effectiveness and outcome predictors.Ther Adv Respir Dis 201913:1-13. (SCI)
  • Lin TY, Chen AD, Chang CH, Liang WC, Minami N, Nishino I, Lai CS*. Severe Ocular Complications After Blepharoptosis Correction in the Oculopharyngeal Muscular Dystrophy Patient: Literature Review and Case Presentation.Ann Plast Surg2020;84(1S):S84-S88. (SCI)
  • Shen PC, Lu CC, Liang WC, Tien YC, Jong YJ, Lu YM, Liu ZM, Shih CL, Chou SH*.Predictors for Deformity Progression in a Spinal Muscular Atrophy Cohort After Scoliosis Correction Surgery.Clin Spine Surg 2020;33:E407-414. (SCI)
  • Liang WC, Wang CH, Chen WZ, Kuo YT, Lin HF, Suzuki S, Nishino I, Jong YJ*. Treatment experience of Taiwanese patients with anti-3-hydroxy-3- methylglutaryl-coenzyme A reductase (HMGCR) myopathy. Kaohsiung J Med Sci2020;36:649-655. (SCI)
  • Liang WC, Jong YJ*, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC.Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.Orphanet J Rare Dis 2020;15:160. (SCI)
  • Lin PY, Liang WC, Liao WA, Sun YT. Exacerbation of myopathy triggered by antiobesity drugs in a patient with multiple acyl-CoA dehydrogenase deficiency. BMC Neurol 2021;21:93. (SCI)
  • Chou SH, Lin SY, Wu MH, Tien YC, Jong YJ, Liang WC, Lu YM, Shih CL, Lu CC*. Intravenous tranexamic acid reduces blood loss andtransfusion volume in scoliosis surgery for spinal muscularatrophy: results of a 20-year retrospective analysis. Int J Environ Res Public Health2021;18(19):9959. (SCI)
  • Munot P, McCrea N, Torelli S, Manzur A, Sewry C, Chambers D, Feng L, Ala P, Zaharieva I, Ragge N, Roper H, Marton T, Cox P, Milev MP, Liang WC, Maruyama S, Nishino I, Sacher M, Phadke R, Muntoni F*.TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.Neuropathol Appl Neurobiol2022 Feb;48(2):e12771. (SCI)
  • Wang CH, Liang WC*, Lin PC, Jong YJ.Combination of thrombocytopenia and hypocalcemia may indicate the possibility of Stormorken Syndrome with STIM1 mutation. Pediatr Neonatol2022;63:198-199. (SCI)
  • Wang CH, Liang WC*.Pediatric immune-mediated necrotizing myopathy.Front Neurol 2023;14:1123380. (SCI)
  • Liu YC, Chen IC, Yin HL, Wu YH, Lo SH, Liang WC, Jaw TS, Dai ZK, Hsu JH.Comparisons of characteristics and outcome between abusive head trauma and non-abusive head trauma in a pediatric intensive care unit.J Formos Med Assoc2023;122:1183-1188.(SCI)
  • Pan SW, Wang HD, Hsiao HY, Hsu PJ, Tseng YC, Liang WC, Jong YJ, Yuh CH.Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.Sci Rep 2024;14:12826.
  • LinLin CY, Liang WC*, Yu YC, Chang SC, Lai MC, Jong YJ. ETFDH mutation involves excessive apoptosis and neurite outgrowth defect via Bcl2 pathway. Sci Rep 2024;14:25374.
  • Book chapter:
  • Liang WC, Nishino I. Disorders of lipid metabolism. In “Muscle Disease: Pathology and Genetics”, 2nd edition. Goebel, H.H. et al. eds. John Wiley & Sons, Ltd. 2013; 265-272.
  • Liang WC, Nishino I. Limb-girdle muscular dystrophy. In “Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease”, 5th edition. Roger N. Rosenberg and Juan M. Pascual eds. 2014; Nov 13.
  • Liang WC, Nishino I. Limb-girdle muscular dystrophy. In “Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease”, 6th edition. Roger N. Rosenberg and Juan M. Pascual eds. 2020
  • Liang WC, Nishino I. Limb-girdle muscular dystrophy. In “Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease”, 7th edition. Roger N. Rosenberg and Juan M. Pascual eds. 2023
回 列 表