ArticleInternational journal of neonatal screening2019
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.
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Article in International journal of neonatal screening, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24citing papers in PubMed
2.4field-weighted citation impact, top 11% of its field
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 39 citations in OpenAlex.
- A Single-Tube Nested PCR Method forMethods and protocols · 2026Article
- Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps.International journal of neonatal screening · 2026Article
- Incidence of HomozygousGenes · 2025Article
- Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy.BMC biotechnology · 2025Article
- Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.International journal of neonatal screening · 2025Article
- Systematic Review of Newborn Screening Programmes for Spinal Muscular Atrophy.International journal of neonatal screening · 2024Review
- Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience.Annals of clinical and translational neurology · 2024Article
- A new line method; A direct test in spinal muscular atrophy screening for DBS.Molecular genetics & genomic medicine · 2023Article
- Real-Time PCR-Based Screening for HomozygousGenes · 2023Article
- Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.International journal of molecular sciences · 2023Review
- Spinal Muscular Atrophy Type I With False Negative in Newborn Screening: A Case Report.Cureus · 2023Article
- PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.Genes · 2022Article
- Changes in the Incidence of Infantile Spinal Muscular Atrophy in Shikoku, Japan between 2011 and 2020.International journal of neonatal screening · 2022Article
- Review
- DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation inInternational journal of neonatal screening · 2021Article
- 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.The Kobe journal of medical sciences · 2021Article
- Article
- Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.Scientific reports · 2021Article
- Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.Muscle & nerve · 2021Review
- Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan.Children (Basel, Switzerland) · 2021Article
Corrections and comments
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Authors and funding
15 authors at 8 institutions in 1 country.
Masakazu ShinoharaDepartment of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; mashino@med.kobe-u.ac.jp (M.S.); niba@med.kobe-u.ac.jp (E.T.E.N.); yogik.onky@gmail.com (Y.O.S.W.); itakayam@med.kobe-u.ac.jp (I.T.).
Emma Tabe Eko NibaDepartment of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; mashino@med.kobe-u.ac.jp (M.S.); niba@med.kobe-u.ac.jp (E.T.E.N.); yogik.onky@gmail.com (Y.O.S.W.); itakayam@med.kobe-u.ac.jp (I.T.).ORCID https://orcid.org/0000-0002-1311-3448
Yogik Onky Silvana WijayaDepartment of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; mashino@med.kobe-u.ac.jp (M.S.); niba@med.kobe-u.ac.jp (E.T.E.N.); yogik.onky@gmail.com (Y.O.S.W.); itakayam@med.kobe-u.ac.jp (I.T.).
Izumi TakayamaDepartment of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; mashino@med.kobe-u.ac.jp (M.S.); niba@med.kobe-u.ac.jp (E.T.E.N.); yogik.onky@gmail.com (Y.O.S.W.); itakayam@med.kobe-u.ac.jp (I.T.).
Chisako MitsuishiJapanese Red Cross Katsushika Maternity Hospital, 5-11-12 Tateishi, Katsushika-ku, Tokyo 124-0012, Japan; mitsuishi@katsushika.jrc.or.jp (C.M.); kumasaka@nms.ac.jp (S.K.).
Sakae KumasakaJapanese Red Cross Katsushika Maternity Hospital, 5-11-12 Tateishi, Katsushika-ku, Tokyo 124-0012, Japan; mitsuishi@katsushika.jrc.or.jp (C.M.); kumasaka@nms.ac.jp (S.K.).
Yoichi KondoMatsuyama Red Cross Hospital, 1 Bunkyo-cho, Matsuyama 790-8524, Japan; ykondoh@matsuyama.jrc.or.jp.
Akihiro TakateraChibune General Hospital, 3-2-39 Fukumachi, Nishiyodogawa-ku, Osaka 555-0034, Japan; a-takatera@kakohp.jp.
Isamu HokutoDepartment of Pediatrics, St. Marianna University School of Medicine, 2-16-1 Sugao, Kawasaki 216-8511, Japan; isamuhokuto@gmail.com.
Ichiro MoriokaDepartment of Pediatrics and Child Health, Nihon University School of Medicine, 30-1 Oyaguchi kamicho, Itabashi-ku, Tokyo 173-8610, Japan; morioka.ichiro@nihon-u.ac.jp.ORCID https://orcid.org/0000-0002-5685-2670
Kazutaka OgiwaraBiogen Japan Ltd., 1-4-1 Nihonbashi, Chuo-ku, Tokyo 103-0027, Japan; cntcr303@ybb.ne.jp (K.O.); ktobita1103@gmail.com (K.T.).
Kimimasa TobitaBiogen Japan Ltd., 1-4-1 Nihonbashi, Chuo-ku, Tokyo 103-0027, Japan; cntcr303@ybb.ne.jp (K.O.); ktobita1103@gmail.com (K.T.).ORCID https://orcid.org/0000-0001-5435-8436
Atsuko TakeuchiKobe Pharmaceutical University, 4-19-1, Motoyamakitamachi, Higashinada-ku, Kobe 658-8558, Japan; takeuchi@kobepharma-u.ac.jp.ORCID https://orcid.org/0000-0001-7841-2783
Hisahide NishioDepartment of Community Medicine and Social Healthcare Science, Division of Epidemiology, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan; mashino@med.kobe-u.ac.jp (M.S.); niba@med.kobe-u.ac.jp (E.T.E.N.); yogik.onky@gmail.com (Y.O.S.W.); itakayam@med.kobe-u.ac.jp (I.T.).
SMA-NBS PILOT STUDY GROUP
Kobe University · JPJapanese Red Cross Katsushika Maternity Hospital · JPChibune General Hospital · JPKobe Gakuin University · JPKobe Pharmaceutical University · JPMatsuyama Red Cross Hospital · JPNihon University · JPSt. Marianna University School of Medicine · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by
Indexed as
mCOP-PCRSMN1SMN2spinal muscular atrophy
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.