| 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 |
| Spinal muscular atrophy carriers with two SMN1 copies MA Rochmah, H Awano, T Awaya, NIF Harahap, N Morisada, Y Bouike, ... Brain and Development 39 (10), 851-860, 2017 | 22 | 2017 |
| Genetic screening of spinal muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA MA Rochmah, NIF Harahap, ETE Niba, K Nakanishi, H Awano, I Morioka, ... Brain and Development 39 (9), 774-782, 2017 | 22 | 2017 |
| 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 |
| 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 |
| Gender effects on the clinical phenotype in Japanese patients with spinal muscular atrophy MA Rochmah, A Shima, NIF Harahap, ETE Niba, N Morisada, ... Kobe Journal of medical sciences 63 (2), E41, 2017 | 16 | 2017 |
| 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 |
| Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2 S Yoshimoto, NIF Harahap, Y Hamamura, M Ar Rochmah, A Shima, ... Human Genome Variation 3 (1), 1-3, 2016 | 13 | 2016 |
| Spinal muscular atrophy: New screening system with real-time mCOP-PCR and PCR-RFLP for SMN1 deletion ETE Niba, MA Rochmah, NIF Harahap, H Awano, I Morioka, K Iijima, ... Kobe Journal of Medical Sciences 65 (2), E44, 2019 | 11 | 2019 |
| SMA mutations in SMN Tudor and C-terminal domains destabilize the protein T Takarada, MA Rochmah, NIF Harahap, M Shinohara, T Saito, K Saito, ... Brain and Development 39 (7), 606-612, 2017 | 11 | 2017 |
| 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 |
| Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2 NIF Harahap, ETE Niba, MA Rochmah, YOS Wijaya, T Saito, K Saito, ... Brain and Development 40 (8), 670-677, 2018 | 8 | 2018 |
| Telomeric region of the spinal muscular atrophy locus is susceptible to structural variations Y Noguchi, A Onishi, Y Nakamachi, N Hayashi, NIF Harahap, ... Pediatric Neurology 58, 83-89, 2016 | 8 | 2016 |
| 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 |
| Two Japanese patients with SMA Type 1 suggest that axonal-SMN may not modify the disease severity H Yamada, Y Nishida, T Maihara, N Sa'adah, NIF Harahap, DK Nurputra, ... Pediatric Neurology 52 (6), 638-641, 2015 | 6 | 2015 |
| Gestational age-dependent increase of survival motor neuron protein in umbilical cord-derived mesenchymal stem cells S Iwatani, NIF Harahap, DK Nurputra, S Tairaku, A Shono, D Kurokawa, ... Frontiers in Pediatrics 5, 194, 2017 | 4 | 2017 |
Mawaddah ar rochmahFaculty of Medicine, Public Health, and Nursing, Universitas Gadjah MadaVerified email at ugm.ac.id
