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 |
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 |
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 | 15 | 2016 |
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 | 11 | 2020 |
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 | 16 | 2015 |
Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series CTS Setyaningrum, ISK Harahap, DK Nurputra, M Ar Rochmah, ... Journal of Medical Case Reports 16 (1), 435, 2022 | 4 | 2022 |
Determining the association between polymorphisms of the DAT1 and DRD4 genes with attention deficit hyperactivity disorder in children from Java Island C Thursina, DK Nurputra, ISK Harahap, NIF Harahap, N Sa’adah, ... Neurology International 12 (1), 2020 | 4 | 2020 |
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 | 7 | 2021 |
For online access to this journal via your library JZ Wang, P Wu, ZM Shi, YL Xu, ZJ Liu, M Yoshida, K Asagiri, S Fukahori, ... | | |
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 |
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 |
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 | 5 | 2017 |
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 | 54 | 2014 |
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 | 9 | 2018 |
Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report CTS Setyaningrum, ISK Harahap, DK Nurputra, IT Rachman, ... Journal of Medical Case Reports 16 (1), 14, 2022 | 3 | 2022 |
Matos-Carvalho Index as a Comparison to other Discriminant Indexes in Initial Beta Thalassemia M Ong, T Ratnaningsih, NI Harahap, I Lesmana, NSN Handayani Jurnal Biomedika dan Kesehatan 7 (2), 108-117, 2024 | | 2024 |
Nested PCR amplification secures DNA template quality and quantity in real-time mCOP-PCR screening for SMA YOS Wijaya, ETE Niba, MA Rochmah, NIF Harahap, H Awano, ... Kobe Journal of Medical Sciences 65 (2), E54, 2019 | 3 | 2019 |
New, Improved Version of the mCOP-PCR Screening System for Detection of Spinal Muscular Atrophy Gene (SMN1) Deletion M Shinohara, MA Rochmah, K Nakanishi, NIF Harahap, ETE Niba, T Saito, ... Kobe Journal of Medical Sciences 63 (2), E37, 2017 | 4 | 2017 |
Pengkayaan ilmu petugas puskesmas sebagai langkah penurunan angka anemia di Kabupaten Sleman E Huriyati, T Ratnaningsih, A Wahab, A Farmawati, NIF Harahap, A Nisa Journal of Community Empowerment for Health 1 (1), 22-27, 2018 | 1 | 2018 |
Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients MA Rochmah, YOS Wijaya, NIF Harahap, C Tode, A Takeuchi, K Ohuchi, ... Kobe Journal of Medical Sciences 66 (1), E1, 2020 | 5 | 2020 |