Neuromuscular Disorders

Research projects 

  • Genetic analysis and clinical profiles of duchenne muscular dystrophy
  • Air stacking by rescucitator bag for cough augmentation in dmd patients
  • Genetic analysis and clinical profiles of limb girdle muscular dystrophy
  • Genetic analysis of spinal muscular atrophy
                                   Publikasi
  1. Iskandar K, Patria YS, Huriyati E, Luglio HF, Julia M, Susilowati R. Effect of FTO rs9939609 variant on insulin resistance in obese female adolescents. (2018). BMC Research Notes. 11(1):300. PMID: 29764479
  2. Herini ES, Gunadi, Triono A, Wirastuti F, Iskandar K, Mardin N, Soenarto Y. Clinical profile of congenital rubella syndrome in Yogyakarta, Indonesia. (2018). Pediatric Internationa 60(2):168-172. PMID: 29068106
  3. Widodo I, Dwianingsih EK, Utoro T, Anwar SL, Aryandono T. (2018). Prognostic Value of Lymphangiogenesis Determinants in Luminal and Non-luminal Breast Carcinomas. Asian Pacific journal of cancer prevention: APJCP, 19(9), 2461. PMID: 30255700
  4. Snak Y, Dwianingsih EK, Sumpono ASB, Panji R, Rahman A, Ghozali A, Amr SS. (2018). Mediastinal Ectopic Pancreas with Abundant Endocrine Cells Coexisting with Mediastinal Cyst and Thymic Hyperplasia. Case Reports in Pathology, 2018. PMID: 29977637
  5. Malueka RG, Dwianingsih EK, Sutarni S, Bawono RG, Bayuangga HF, Gofir A, Setyopranoto I. (2018). The D allele of the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism is associated with worse functional outcome of ischaemic stroke. International Journal of Neuroscience, 128(8), 697-704. PMID: 29199539
  6. Widodo I, Dwianingsih EK, Anwar SL, Triningsih FE, Utoro T, Aryandono T. (2017). Prognostic value of clinicopathological factors for Indonesian breast carcinomas of different molecular subtypes. Asian Pacific journal of cancer prevention: APJCP, 18(5), 1251. PMID: 28610410
  7. Dwianingsih EK, Hardianti MS, Malueka RG, Iswar RR, Sutapa SA, Triningsih, FX. (2016). Histopathological Features of Lymphoma in Yogyakarta, Indonesia. Asian Pacific journal of cancer prevention: APJCP, 17(9), 4213-4216. PMID: 27797220
  8. Antoro EL, Dwianingsih EK, Indrawati FX, Triningsih FX, Harijadi H. (2016). The Polymerase Chain Reaction in Diagnosis of Small B-Cell Non-Hodgkin Lymphomas. Asian Pacific Journal of Cancer Prevention, 17(2), 491-495. PMID: 26925633
  9. Pradjatmo H, Dasuki D, Dwianingsih EK, Triningsih E. (2015). Malignancy risk scoring of hydatidiform moles. Asian Pac J Cancer Prev, 16, 2441-5. PMID: 25824778
  10. Malueka RG, Dwianingsih EK, Yagi M, Lee T, Nishida A, Iijima K, Matsuo M. (2015). Phosphorothioate modification of chimeric 2′-o-methyl RNA/ethylene-bridged nucleic acid oligonucleotides increases dystrophin exon 45 skipping capability and reduces cytotoxicity. Kobe J. Med. Sci, 60, E86-E94. PMID: 25791417
  11. Widodo I, Dwianingsih EK, Triningsih E, Utoro T, Soeripto S. (2014). Clinicopathological features of Indonesian breast cancers with different molecular subtypes.Asian Pac J Cancer Prev, 15(15), 6109-13. PMID: 25124582
  12. Dwianingsih EK, Malueka RG, Nishida A, Itoh K, Lee T, Yagi M, Matsuo M. (2014). A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. Journal of human genetics, 59(8), 423. PMID: 24871807
  13. Malueka RG, Takaoka Y, Yagi M, Awano H, Lee T, Dwianingsih EK, Matsuo M. (2012). Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision
    markers. BMC genetics, 13(1), 23. PMID: 22462762
  14. Malueka RG, Yagi M, Awano H, Lee T, Dwianingsih EK, Nishida A, Matsuo M. (2011). Antisenseoligonucleotide induced dystrophin exon 45 skipping at a low half-maximal effective concentration in a cell-free splicing system. Nucleic acid therapeutics, 21(5), 347-353. PMID: 21967521

  15. Dwianingsih EK, Takeshima Y, Itoh K, Yamauchi Y, Awano H, Malueka RG, Matsuo M. (2010). A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. Molecular genetics and metabolism, 101(2), 233-237. PMID: 20638880

  16. Sa'adah N, Harahap NI, Nurputra DK, Rochmah MA, Morikawa S, Nishimura N, Sadewa AH, Astuti I, Haryana SM, Saito T, Saito K, Nishio H. (2015). A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper. Clinical Laboratory, 61(5-6):575-80. PMID: 26118191

  17. Harahap NIF, Nurputra DK Ar Rochmah M, Shima A, Morisada N, Takarada T, Takeuchi A, Tohyama Y, Yanagisawa S, Nishio H. (2015). Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells. Biochemistry and Biophysics Reports. 4: 351-356. PMID: 29124224

  18. Thursina C, Ar Rochmah M, Nurputra DK, Harahap IS, Harahap NI, Sa'Adah N,  Wibowo S, Sutarni S, Sadewa AH, Nishimura N, Mandai T, Iijima K, Nishio H, Kitayama S. (2015). Attention Deficit/Hyperactivity Disorder (ADHD): Age Related Change of Completion Time and Error Rates of Stroop Test. Kobe Journal of Medical Sciences, 61(1):E19-26. PMID: 25868610

  19. Iwatani S, Harahap NIF, Nurputra DK, Tairaku S, Shono A, Kurokawa D. (2017). Gestational age-dependent increase of survival motor neuron protein in umbilical cord-derived mesenchymal stem cell. Frontiers in Pediatrics. 5: 194. PMID: 28929094