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"...They were just treating her Symptom by Symptom": maternal experiences of having a child with spinal muscular atrophy in Ghana.

• Authors : Tawiah, Esther Doe-Yo^1,2; Sarfo, Jacob Owusu³

• Source: BMC Palliative Care. 1/31/2025, Vol. 24 Issue 1, p1-10. 10p.

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Maximal mouth opening in infants and toddlers with spinal muscular atrophy: a prospective controlled study.

• Authors : Zang, Jana^1,2 (AUTHOR) ; Weiss, Deike³ (AUTHOR); Dumitrascu, Charlotte¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/15/2025, Vol. 20 Issue 1, p1-9. 9p.

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A cross-sectional and longitudinal evaluation of serum creatinine as a biomarker in spinal muscular atrophy.

• Authors : Zhao, Xin¹ (AUTHOR); Gong, Zhenxiang¹ (AUTHOR); Luo, Han¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/25/2024, Vol. 19 Issue 1, p1-9. 9p.

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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study.

• Authors : Kato, Tamaki¹ (AUTHOR) ; Yokomura, Mamoru¹ (AUTHOR) ; Osawa, Yutaka² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 2/7/2025, Vol. 20 Issue 1, p1-12. 12p.

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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.

• Authors : Gao, Shanshan^1,2 (AUTHOR); Chen, Duo¹ (AUTHOR); Li, Qianqian¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/15/2025, Vol. 20 Issue 1, p1-10. 10p.

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Risdiplam utilization, adherence, and associated health care costs for patients with spinal muscular atrophy: a United States retrospective claims database analysis.

• Authors : Patel, Anish¹ (AUTHOR) ; Toro, Walter¹ (AUTHOR); Yang, Min² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/30/2024, Vol. 19 Issue 1, p1-11. 11p.

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Efficacy of Nusinersen Treatment in Type 1, 2, and 3 Spinal Muscular Atrophy: Real-World Data from a Single-Center Study.

• Authors : Lemska, Anna¹ (AUTHOR) ; Ruminski, Piotr¹ (AUTHOR); Szymarek, Jakub¹ (AUTHOR)

• Source: Neurology International. Dec2024, Vol. 16 Issue 6, p1266-1278. 13p.

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The Impact of Nusinersen Treatment on Respiratory Function in Patients with Spinal Muscular Atrophy: A Systematic Review.

• Authors : Aldukain, Mona¹ (AUTHOR) ; Aldukain, Ali¹ (AUTHOR) ; Hobani, Assal² (AUTHOR)

• Source: Journal of Clinical Medicine. Nov2024, Vol. 13 Issue 21, p6306. 14p.

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Taldefgrobep Alfa and the Phase 3 RESILIENT Trial in Spinal Muscular Atrophy.

• Authors : Servais, Laurent^1,2 (AUTHOR); Lair, Lindsey Lee³ (AUTHOR); Connolly, Anne M.⁴ (AUTHOR)

Subjects: *SPINAL muscular atrophy; *CLINICAL trials; *ACTIVIN receptors

• Source: International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10273. 20p.

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Recombinant SMN protein synergizes with spinal muscular atrophy therapy to counteract pathological motor neuron phenotypes.

• Authors : Brambilla, Liliana¹ (AUTHOR); Valori, Chiara F.¹ (AUTHOR); Guidotti, Giulia¹ (AUTHOR)

• Source: Translational Neurodegeneration. 12/17/2024, Vol. 13, p1-5. 5p.

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