神經肌肉疾病相關之參考文獻

  1. Jong YJ, Shishikura K, Aoyama M, Kitahara H, Horita H, Osawa M, Suzuki H, Hirayama Y, Nakada E, Saito K, et al. Nonspecific congenital myopathy (minimal change myopathy): a case report. Brain Dev. 1987;9(1):61-4.
  2. Jong YJ, Huang SC, Liu GC, Chiang CH. Mental retardation in congenital nonprogressive myopathy with uniform type 1 fibers. Brain Dev. 1991 Nov;13(6):444-6.
  3. Jong YJ, Chuang YH, Chen SS, Chen BH, Chiang CH. Dystrophin immunostaining of muscle from Chinese patients with various neuromuscular diseases. J Formos Med Assoc. 1991 Dec;90(12):1143-8.
  4. Liu GC, Jong YJ, Chiang CH, Yang CW. Spinal muscular atrophy: MR evaluation. Pediatr Radiol. 1992;22(8):584-6. doi: 10.1007/BF02015357.
  5. Liu GC, Jong YJ, Chiang CH, Jaw TS.Duchenne muscular dystrophy: MR grading system with functional correlation. Radiology. 1993 Feb;186(2):475-80.
  6. Yang RC, Yang SL, Jin SH, Chen HW, Jong YJ, Chen SS, Suzuki Y. Detection of dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients utilizing multiplex polymerase chain reaction. Gaoxiong Yi Xue Ke Xue Za Zhi. 1994 Jan;10(1):1-8.
  7. Liou CW, Huang CC, Chee EC, Jong YJ, Tsai JL, Pang CY, Lee HC, Wei YH.MELAS syndrome: correlation between clinical features and molecular genetic analysis. Acta Neurol Scand. 1994 Nov;90(5):354-9.
  8. Chang JG, Jong YJ, Huang JM, Wang WS, Yang TY, Chang CP, Chen YJ, Lin SP. Molecular basis of spinal muscular atrophy in Chinese. Am J Hum Genet. 1995 Dec;57(6):1503-5.
  9. Huang JJ, Jong YJ, Huang MY, Chiang CH, Huang TY. Electrocardiographic findings in children with spinal muscular atrophy. Jpn Heart J. 1996 Mar;37(2):239-42.
  10. Huang MY, Jong YJ, Tsai JL, Liu GC, Chiang CH, Pang CY, Wei YH. Mitochondrial NADH-coenzyme Q reductase deficiency in Leigh's disease. J Formos Med Assoc. 1996 Apr;95(4):325-8.
  11. Chang JG, Jong YJ, Lin SP, Soong BW, Tsai CH, Yang TY, Chang CP, Wang WS.Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum Genet. 1997 Oct;100(5-6):577-81.
  12. Chang JG, Jong YJ, Wang WP, Wang JC, Hu CJ, Lo MC, Chang CP.Rapid detection of a recombinant hotspot associated with Charcot-Marie-Tooth disease type IA duplication by a PCR-based DNA test. Clin Chem. 1998 Feb;44(2):270-4.
  13. Jong YJ, Chang JG, Wu JR. Large-scale deletions in a Chinese infant associated with a variant form of Werdnig-Hoffmann disease. Neurology. 1998 Sep;51(3):878-9.
  14. Lin SP, Chang JG, Jong YJ, Yang TY, Tsai CH, Wang NM, Li H, Hsieh-Li HM, Hu CJ. Prenatal prediction of spinal muscular atrophy in Chinese. Prenat Diagn. 1999 Jul;19(7):657-61.
  15. Hsieh-Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, Li H. A mouse model for spinal muscular atrophy. Nat Genet. 2000 Jan;24(1):66-70.
  16. Jong YJ, Chang JG, Lin SP, Yang TY, Wang JC, Chang CP, Lee CC, Li H, Hsieh-Li HM, Tsai CH. Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients. J Neurol Sci. 2000 Feb 15;173(2):147-53.
  17. Jong YJ, Kobayashi K, Toda T, Kondo E, Huang SC, Shen YZ, Nonaka I, Fukuyama Y. Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. Neuromuscul Disord. 2000 Feb;10(2):108-12.
  18. Jong YJ, Li H, Chang JG, Hsieh-Li HM, Lee HH, Lee CC, Wang NM, Tsai CH. Analysis of an SMN gene-like DNA fragment. Kaohsiung J Med Sci. 2000 Mar;16(3):112-6.
  19. Jong YJ. Lessons from female dystrophinopathy. Acta Paediatr Taiwan. 2000 Mar-Apr;41(2):57-8.
  20. Chang JG, Hsieh-Li HM, Jong YJ, Wang NM, Tsai CH, Li H. Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9808-13. doi: 10.1073/pnas.171105098.
  21. Tsai CH, Jong YJ, Hu CJ, Chen CM, Shih MC, Chang CP, Chang JG. Molecular analysis of SMN, NAIP and P44 genes of SMA patients and their families. J Neurol Sci. 2001 Sep 15;190(1-2):35-40.
  22. Lu CY, Tso DJ, Yang T, Jong YJ, Wei YH.Detection of DNA mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer. Clin Chim Acta. 2002 Apr;318(1-2):97-105.
  23. Wang HY, Yang YH, Jong YJ.Evaluation of muscle strength in patients with spinal muscular atrophy. Kaohsiung J Med Sci. 2002 May;18(5):241-7.
  24. Lin LC, Jong YJ.Pulmonary function assessment in patients with spinal muscular atrophy type II and type III. Acta Paediatr Taiwan. 2004 Jan-Feb;45(1):15-8.
  25. Chang HC, Hung WC, Chuang YJ, Jong YJ.Degradation of survival motor neuron (SMN) protein is mediated via the ubiquitin/proteasome pathway. Neurochem Int. 2004 Dec;45(7):1107-12. doi: 10.1016/j.neuint.2004.04.005.
  26. Liang WC, Tsai KB, Lai CL, Chen LH, Jong YJ.Riboflavin-responsive glutaric aciduria type II with recurrent pancreatitis. Pediatr Neurol. 2004 Sep;31(3):218-21.
  27. Wang HY, Ju YH, Chen SM, Lo SK, Jong YJ.Joint range of motion limitations in children and young adults with spinal muscular atrophy. Arch Phys Med Rehabil. 2004 Oct;85(10):1689-93.
  28. Hung CC, Lee CN, Chen CP, Jong YJ, Chen CA, Cheng WF, Lin WL, Su YN.Quantification of relative gene dosage by single-base extension and high-performance liquid chromatography: application to the SMN1/SMN2 gene. Anal Chem. 2005 Nov 1;77(21):6960-8
  29. Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, Jong YJ.A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I. Brain Dev. 2007 May;29(4):234-8.
  30. 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.
  31. 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.
  32. 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.
  33. 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.
  34. 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.
  35. 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.
  36. Chen TH, Tzeng CC, Wang CC, Wu SM, Chang JG, Yang SN, Hung CH, Jong YJ. Identification of bidirectional gene conversion between SMN1 and SMN2 by simultaneous analysis of SMN dosage and hybrid genes in a Chinese population. J Neurol Sci 2011 Sep 15;308(1-2):83-7.
  37. Chen YS, Shih HH, Chen TH, Kuo CH, Jong YJ. Prevalence and risk factors for feeding and swallowing difficulties in spinal muscular atrophy types II and III. J Pediatr. 2012;160:447-451.e1.
  38. 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 Disord 2012;22:331-338.
  39. 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.
  40. 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.
  41. Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ. Intranuclear Rods Myopathy with Autonomic Dysfunction. Brain Dev 2013;35:686-689.
  42. Liang WC, Nishino I. Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients. J Neurol Neurosurg Psychiatry 2013;84:591.
  43. 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.
  44. 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.
  45. 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.
  46. 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, placebo-controlled trial for spinal muscular atrophy. J Child Neurol 2014;29:1680-4.
  47. Hsu JH, Chen TH, Jong YJ. Methodological considerations in combined noninvasive ventilation and mechanical in-exsufflator. Pediatr Pulmonol 2014;49:1045-6.
  48. Hsu JH, Chen TH, Jong YJ. Community-acquired pneumonia in pediatric patients with acute neuromuscular respiratory failure: a microbiologic perspective. Pediatr Pulmonol 2014;49:827-8.
  49. 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.
  50. Tian X#, Liang WC#, Feng Y#, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, Hsu YY, Lin TS, Chen WT, Wong LJ, Jong YJ. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurology: Genetics 2015;1:e14
  51. 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.
  52. Lin TL, Chen TH, Hsu YY, Cheng YH, Juang BT, Jong YJ. Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides. PLoS One 2016;11:e0154723.
  53. 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.
  54. Chen TH, Tian X, Kuo PL, Pan HP, Wong LC, Jong YJ. Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. Prenat Diagn 2016;36:1135-1138.
  55. Tseng YT, Chen CS, Jong YJ, Chang FR, Lo YC. Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy. Pharmacol Res 2016;111:58-75.
  56. Yang CW, Chen CL, Chou WC, Lin HC, Jong YJ, Tsai LK*, Chuang CY*. An integrative transcriptomic analysis for identifying novel target genes corresponding to severity spectrum in spinal muscular atrophy. PLoS One 2016;11(6): e0157426.
  57. Chen TH, Hsu JH, Jong YJ. Noninvasive airway approaches for acute neuromuscular respiratory failure in emergency departments. Pediatr Pulmonol 2017;52:E55-E57.
  58. 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
  59. Chen YC, Chang JG, Liu TY, Jong YJ, Cheng WL, Yuo CY*. Securinine enhances SMN2 exon 7 inclusion in spinal muscular atrophy cells. Biomed Pharmacother 2017;88:708-14.
  60. Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, Lee WT, Jong YJ, Ko TM, Hwu WL. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr 2017;190:124-9.
  61. Tseng YT, Jong YJ, Liang WF, Chang FR, Lo YC*. The water extract of Liuwei dihuang possesses multi-protective properties on neurons and muscle tissue against deficiency of survival motor neuron protein. Phytomedicine 2017;34:97-105.
  62. 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 One 2017;12(2):e0170517.
  63. Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D, Tadalafil DMD Study Group. A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology 2017;89(17):1811-20.
  64. 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. Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. N Engl J Med 2017;377:1723-1732.
  65. 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. Pediatrics and Neonatology 2018;59:176-183.
  66. Wang CC, Chen CA, Jong YJ, Kou HS. Specific gene capture combined with restriction-fragment release for directly fluorescent genotyping of single-nucleotide polymorphisms in diagnosing spinal muscular atrophy. Anal Chem 2018;90(19):11599-11606.
  67. 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.
  68. De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, Kirschner J, Kuntz NL, Parsons JA, Ryan MM, Butterfield RJ, Topaloglu H, Ben-Omran T, Sansone VA, Jong YJ, Shu F, Staropoli JF, Kerr D, Sandrock AW, Stebbins C, Petrillo M, Braley G, Johnson K, Foster R, Gheuens S, Bhan I, Reyna SP, Fradette S, Farwell W; NURTURE Study Group. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study, Neuromuscul Disord 2019;29:842-856.
  69. Kao WT, Tseng YH, Jong YJ, Chen TH. Emergency room visits and admission rates of children with neuromuscular disorders: A 10-year experience in a medical center in Taiwan. Pediatr Neonatol 2019;60:405-410.
  70. 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
  71. 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 Surg 2020;84(1S):S84-S88.
  72. 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 Apr 24. [Epub ahead of print]
  73. 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 Sci 2020 [Accepted]
  74. 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.
  75. Ou SF, Ho CS, Lee WT, Lin KL, Jones CC, Jong YJ, SMA Study Group. Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study. Brain Dev 2020 Aug 30:S0387-7604(20)30195-9. [ahead of print]
  76. Hsu PJ, Wang HD, Tseng YC, Pan SW, Sampurna BP, Jong YJ, Yuh CH. L-Carnitine ameliorates congenital myopathy in a tropomyosin 3 de novo mutation transgenic zebrafish. J Biomed Sci. 2021;28(1):8.

 

← Back previous page 回上一頁

 

↑