| Spinal muscular atrophy: from gene discovery to clinical trials DK Nurputra, PS Lai, NIF Harahap, S Morikawa, T Yamamoto, ... Annals of human genetics 77 (5), 435-463, 2013 | 107 | 2013 |
| Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients T Yamamoto, H Sato, P San Lai, DK Nurputra, NIF Harahap, S Morikawa, ... Brain and Development 36 (10), 914-920, 2014 | 47 | 2014 |
| Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines ISK Harahap, T Saito, LP San, N Sasaki, DKP Nurputra, S Yusoff, ... Brain and Development 34 (3), 213-222, 2012 | 44 | 2012 |
| Fast and noninvasive electronic nose for sniffing out COVID-19 based on exhaled breath-print recognition DK Nurputra, A Kusumaatmaja, MS Hakim, SN Hidayat, T Julian, ... NPJ Digital Medicine 5 (1), 115, 2022 | 42 | 2022 |
| Hybrid learning method based on feature clustering and scoring for enhanced COVID-19 breath analysis by an electronic nose SN Hidayat, T Julian, AB Dharmawan, M Puspita, L Chandra, A Rohman, ... Artificial Intelligence in Medicine 129, 102323, 2022 | 25 | 2022 |
| Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper NIF Harahap, ISK Harahap, RH Kaszynski, DKP Nurputra, TB Hartomo, ... Genetic testing and molecular biomarkers 16 (2), 123-129, 2012 | 20 | 2012 |
| The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine K Iskandar, EK Dwianingsih, L Pratiwi, AS Kalim, H Mardhiah, AH Putranti, ... BMC Research Notes 12, 1-6, 2019 | 19 | 2019 |
| SMA screening system using dried blood spots on filter paper: application of COP-PCR to the SMN1 deletion test N Kato 神戸大学, 2015 | 19 | 2015 |
| A systematic review on Treacher Collins syndrome: Correlation between molecular genetic findings and clinical severity ZS Ulhaq, DK Nurputra, GV Soraya, S Kurniawati, LA Istifiani, ... Clinical Genetics 103 (2), 146-155, 2023 | 16 | 2023 |
| Salbutamol inhibits ubiquitin-mediated survival motor neuron protein degradation in spinal muscular atrophy cells NIF Harahap, DK Nurputra, MA Rochmah, A Shima, N Morisada, ... Biochemistry and Biophysics Reports 4, 351-356, 2015 | 15 | 2015 |
| Attention Deficit/Hyperactivity Disorder (ADHD): age related change of completion time and error rates of Stroop test C Thursina, MA Rochmah, DK Nurputra, ISK Harahap, NIF Harahap, ... Kobe J Med Sci 61 (1), E19-26, 2015 | 14 | 2015 |
| School reopening: Evidence-based recommendations during COVID-19 pandemic in Indonesia RY Kristyanto, L Chandra, H Hanjaya, MS Hakim, DK Nurputra Journal of Community Empowerment for Health 4 (1), 1-14, 2021 | 11 | 2021 |
| Diagnosis of spinal muscular atrophy via high-resolution melting analysis symmetric polymerase chain reaction without probe: a screening evaluation for SMN1 deletions and … S Morikawa, ISK Harahap, RH Kaszynski, T Yamamoto, DK Pramudya, ... Genetic testing and molecular biomarkers 15 (10), 677-684, 2011 | 11 | 2011 |
| Paramyotonia congenita: From clinical diagnosis to in silico protein modeling analysis DK Nurputra, T Nakagawa, Y Takeshima, ISK Harahap, S Morikawa, ... Pediatrics International 54 (5), 602-612, 2012 | 10 | 2012 |
| Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots YOS Wijaya, J Purevsuren, NIF Harahap, ETE Niba, Y Bouike, ... International journal of neonatal screening 6 (2), 43, 2020 | 9 | 2020 |
| A Study of valproic acid for patients with spinal muscular atrophy T Saito, DK Nurputra, NIF Harahap, ISK Harahap, H Yamamoto, ... Neurology and Clinical Neuroscience 3 (2), 49-57, 2015 | 9 | 2015 |
| A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper. N Sa'adah, NI Harahap, DK Nurputra, MA Rochmah, S Morikawa, ... Clinical Laboratory 61 (5-6), 575-580, 2015 | 9 | 2015 |
| Molecular pathology of Sandhoff disease with p. Arg505Gln in HEXB: application of simulation analysis N Yasui, Y Takaoka, H Nishio, DK Nurputra, K Sekiguchi, H Hamaguchi, ... Journal of human genetics 58 (9), 611-617, 2013 | 8 | 2013 |
| A Brief analysis on clinical severity of mandibulofacial dysostosis Guion-Almeida type ZS Ulhaq, GV Soraya, LA Istifiani, SA Pamungkas, D Arisanti, B Dini, ... The Cleft palate-craniofacial journal, 10556656221136177, 2022 | 6 | 2022 |
| Dried blood spot screening system for spinal muscular atrophy with allele-specific polymerase chain reaction and melting peak analysis YOS Wijaya, H Nishio, ETE Niba, T Shiroshita, M Kato, Y Bouike, C Tode, ... Genetic Testing and Molecular Biomarkers 25 (4), 293-301, 2021 | 6 | 2021 |
