Research map: Spinal muscular atrophy with five SMN2 copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions

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Papers in this map

  1. Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy · Markus Feldkötter · 2002 · 1025 citations · Cited by this paper
  2. Effect of low-frequency repetitive transcranial magnetic stimulation combined with abdominal acupuncture on lower limb motor function and balance in post-stroke hemiplegia: a randomized controlled trial · 2026 · Related
  3. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases · Maite Calucho · 2018 · 523 citations · Cited by this paper
  4. Gut-brain axis: a revolutionary paradigm in the pathogenesis and treatment of ischemic stroke · 2026 · Related
  5. Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who Have 4 Copies of SMN2 · Jacqueline Glascock · 2020 · 143 citations · Cited by this paper
  6. Impact of cavernous internal carotid artery tortuosity on technical and clinical outcomes in mechanical thrombectomy for acute ischemic stroke: a single-center retrospective study · 2026 · Related
  7. Measuring Outcomes in Adults with Spinal Muscular Atrophy – Challenges and Future Directions – Meeting Report · Valeria Sansone · 2020 · 70 citations · Cited by this paper
  8. Analysis of macular and optic nerve vasculature using optical coherence tomography angiography in patients with human T-cell lymphotropic virus type 1 · 2026 · Related
  9. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy · Ivon Cuscó · 2020 · 61 citations · Cited by this paper
  10. Serial 7 T MRI demonstrates reversible hippocampal T2 abnormalities in transient global amnesia · 2026 · Related
  11. Clinical and radiological profile of patients with spinal muscular atrophy type 4 · Paulo Victor Sgobbi de Souza · 2020 · 49 citations · Cited by this paper
  12. Advanced radiomics techniques applied on carotid duplex ultrasound data predict adverse outcomes in acute ischemic stroke · 2026 · Related
  13. The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy · Mar Costa‐Roger · 2021 · 42 citations · Cited by this paper
  14. Association between fatigue and functional status among patients with multiple sclerosis · 2026 · Related
  15. Spinal muscular atrophy in the era of newborn screening: how the classification could change · Antonio Varone · 2025 · 17 citations · Cited by this paper
  16. Rapid accommodations for university students with concussion are feasible: nationwide return-to-learn perspectives of accessibility staff · 2026 · Related
  17. Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec · Eduardo Fidel Tizzano · 2024 · 12 citations · Cited by this paper
  18. Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view · 2026 · Related
  19. 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands · Emanuela Abiusi · 2023 · 11 citations · Cited by this paper
  20. Characteristics of subclinical seizures in an adult epilepsy population—a retrospective observational study · 2026 · Related

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