ArticleThe Kobe journal of medical sciences2017
Gender Effects on the Clinical Phenotype in Japanese Patients with Spinal Muscular Atrophy.
Article in The Kobe journal of medical sciences, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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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
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- The impact of threeFrontiers in neurology · 2024Pooled it
- Disparities in Spinal Muscular Atrophy-Related Mortality in the United States, 2018-2023.NeuroSci · 2026Article
- Article
- Sexual dimorphisms in skeletal muscle: current concepts and research horizons.Journal of applied physiology (Bethesda, Md. : 1985) · 2024Review
- Long-Term Comparative Efficacy and Safety of Risdiplam and Nusinersen in Children with Type 1 Spinal Muscular Atrophy.Advances in therapy · 2024Article
- No significant sex differences in incidence or phenotype for the SMNΔ7 mouse model of spinal muscular atrophy.Neuromuscular disorders : NMD · 2024Article
- Cognitive impairment in children with 5q-associated spinal muscular atrophy type 1: two case reports and the review of the literature.Frontiers in pediatrics · 2024Article
- Sex and Gender Differences in Neurodegenerative Diseases: Challenges for Therapeutic Opportunities.International journal of molecular sciences · 2023Review
- Cognitive impairment in Chinese adult patients with type III spinal muscular atrophy without disease-modifying treatment.Frontiers in neurology · 2023Article
- Sex Difference in Spinal Muscular Atrophy Patients - are Males More Vulnerable?Journal of neuromuscular diseases · 2023Article
- Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.Biochimica et biophysica acta. Molecular basis of disease · 2021Review
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is a neuromuscular disease caused by a mutation in SMN1. SMA is classified into three subtypes (types 1, 2, 3) based on achieved motor milestones. Although NAIP and SMN2 are widely accepted as SMA-modifying factors, gender-related modifying factors or gender effects on the clinical phenotype are still controversial.
methodsA total of 122 Japanese patients with SMA, of which SMN1 was homozygously deleted, were analyzed from the perspective of the achieved motor milestone, NAIP status and SMN2 copy number.
resultsA predominance of male patients was observed in SMA type 3 (the walker group) without NAIP-deletion or with high SMN2 copy number (3 or 4 copies).
conclusionWe suggest the presence of gender-related modifiers on disease severity in SMA patients. The modifiers may contribute only in the presence of NAIP and a high copy number of SMN2.
Indexed as
Identifiers
29434173PMC5826018W2948718628What OpenQuestion holds
Registered trials
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.