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Publication : orphanet journal of rare diseases

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Academic Journal

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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Academic Journal

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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Academic Journal

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy.

Authors : Li, Wenjing¹ (AUTHOR); Zhang, Qin² (AUTHOR); Miao, Hongjun² (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/26/2025, Vol. 20 Issue 1, p1-10. 10p.

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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.

Authors : Kruse, Teresa^1,2 (AUTHOR) ; Leflerovà, Diana¹ (AUTHOR); Cap, Annette¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 10/15/2024, Vol. 19 Issue 1, p1-13. 13p.

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Academic Journal

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Authors : Desguerre, Isabelle^1,2 (AUTHOR); Barrois, Rémi² (AUTHOR) ; Audic, Frédérique³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 9/13/2024, Vol. 19 Issue 1, p1-11. 11p.

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Academic Journal

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening.

Authors : Trollmann, Regina¹ (AUTHOR) ; Johannsen, Jessika² (AUTHOR); Vill, Katharina³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 9/26/2024, Vol. 19 Issue 1, p1-9. 9p.

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Academic Journal

Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.

Authors : Wang, Duan¹ (AUTHOR); Zhang, Ting¹ (AUTHOR); Li, Yi¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 7/25/2024, Vol. 19 Issue 1, p1-9. 9p.

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نتائج البحث

فلترة النتائج

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

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

Real-world analysis of the efficacy and safety of nusinersen in pediatric patients with spinal muscular atrophy.

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

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

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

Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Postnatal management of preterm infants with spinal muscular atrophy: experience from German newborn screening.

Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.

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