| Spinal muscular atrophy: Diagnosis, incidence, and newborn screening in Japan T Kimizu, S Ida, K Okamoto, H Awano, ETE Niba, YOS Wijaya, S Okazaki, ... International journal of neonatal screening 7 (3), 45, 2021 | 36 | 2021 |
| A novel system for spinal muscular atrophy screening in newborns: Japanese pilot study M Shinohara, ETE Niba, YOS Wijaya, I Takayama, C Mitsuishi, ... International Journal of Neonatal Screening 5 (4), 41, 2019 | 31 | 2019 |
| Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene ETE Niba, H Nishio, YOS Wijaya, P San Lai, T Tozawa, T Chiyonobu, ... Brain and Development 43 (2), 294-302, 2021 | 24 | 2021 |
| 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 | 21 | 2012 |
| Phenotypes of SMA patients retaining SMN1 with intragenic mutation YOS Wijaya, MA Rohmah, ETE Niba, N Morisada, Y Noguchi, Y Hidaka, ... Brain and Development 43 (7), 745-758, 2021 | 19 | 2021 |
| PCR-based screening of spinal muscular atrophy for newborn infants in Hyogo Prefecture, Japan Y Noguchi, R Bo, H Nishio, H Matsumoto, K Matsui, Y Yano, M Sugawara, ... Genes 13 (11), 2110, 2022 | 18 | 2022 |
| 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 |
| 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 |
| 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 |
| Stability and oligomerization of mutated SMN protein determine clinical severity of spinal muscular atrophy ETE Niba, H Nishio, YOS Wijaya, M Ar Rochmah, T Takarada, A Takeuchi, ... Genes 13 (2), 205, 2022 | 6 | 2022 |
| 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 |
| Newborn screening for spinal muscular atrophy: DNA preparation from dried blood spot and DNA polymerase selection in PCR A Takeuchi, C Tode, M Nishino, YOS Wijaya, ETE Niba, H Awano, ... Kobe Journal of Medical Sciences 65 (3), E95, 2019 | 5 | 2019 |
| DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming … ETE Niba, YOS Wijaya, H Awano, N Taniguchi, Y Takeshima, H Nishio, ... International Journal of Neonatal Screening 7 (04), 79, 2021 | 4 | 2021 |
| Detection of spinal muscular atrophy patients using dried saliva spots YOS Wijaya, H Nishio, ETE Niba, K Okamoto, H Shintaku, Y Takeshima, ... Genes 12 (10), 1621, 2021 | 4 | 2021 |
| High Concentration or Combined Treatment of Antisense Oligonucleotides for Spinal Muscular Atrophy Perturbed SMN2 Splicing in Patient Fibroblasts YOS Wijaya, ETE Niba, H Nishio, K Okamoto, H Awano, T Saito, ... Genes 13 (4), 685, 2022 | 3 | 2022 |
| 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 |
| Glycogen storage disease type Ia screening using dried blood spots on filter paper: Application of COP-PCR for detection of the c. 648G> T G6PC gene mutation YOS Wijaya, ETE Niba, R Yabushita, Y Bouike, H Nishio, H Awano Kobe Journal of Medical Sciences 67 (2), E71, 2021 | 2 | 2021 |
| Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110 Y Noguchi, R Bo, H Nishio, H Matsumoto, K Matsui, Y Yano, M Sugawara, ... Genes 14 (3), 759, 2023 | | 2023 |
| Nutrition and Mental Health Empowerment Project for Counseling Teachers and Students of Senior High Schools in Yogyakarta R Oktriani, DS Rubi, YOS Wijaya, BA Nurrahma, MF Faizal, S Maulidya, ... Journal of Community Empowerment for Health 6 (3), 2023 | | 2023 |
| Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy. Genes 2022, 13, 205 ETE Niba, H Nishio, YOS Wijaya, M Ar Rochmah, T Takarada, A Takeuchi, ... s Note: MDPI stays neutral with regard to jurisdictional claims in published …, 2022 | | 2022 |
