نتائج البحث

Treatment preferences in spinal muscular atrophy: A swing weighting study for caregivers of patients with SMA types 1 and 2.

• Authors : Patel, Anish¹ (AUTHOR) ; Toro, Walter¹ (AUTHOR); Bourke, Siobhan² (AUTHOR)

Subjects: *CAREGIVER attitudes; *SPINAL muscular atrophy; *MEDICAL personnel

• Source: PLoS ONE. 10/21/2024, Vol. 19 Issue 10, p1-20. 20p.

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Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort study.

• Authors : Barrois, R.^1,2,3,4 (AUTHOR) ; Tervil, B.³ (AUTHOR); Cacioppo, M.^5,6 (AUTHOR)

• Source: Journal of NeuroEngineering & Rehabilitation (JNER). 10/17/2024, Vol. 21 Issue 1, p1-16. 16p.

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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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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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Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis.

• Authors : Hagenacker, Tim¹ (AUTHOR) ; Maggi, Lorenzo² (AUTHOR); Coratti, Giorgia³ (AUTHOR)

• Source: Neurology & Therapy. Oct2024, Vol. 13 Issue 5, p1483-1504. 22p.

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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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Significance of Programmed Cell Death Pathways in Neurodegenerative Diseases.

• Authors : Guo, Dong^1,2 (AUTHOR) ; Liu, Zhihao^1,2 (AUTHOR) ; Zhou, Jinglin^1,2 (AUTHOR)

Subjects: *APOPTOSIS; *SPINAL muscular atrophy; *ALZHEIMER'S disease

• Source: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p9947. 43p.

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Understanding the Role of the SMN Complex Component GEMIN5 and Its Functional Relationship with Demethylase KDM6B in the Flunarizine-Mediated Neuroprotection of Motor Neuron Disease Spinal Muscular Atrophy.

• Authors : Salman, Badih¹ (AUTHOR) ; Bon, Emeline¹ (AUTHOR) ; Delers, Perrine¹ (AUTHOR)

Subjects: *SPINAL muscular atrophy; *TRANSCRIPTION factors; *RNA metabolism

• Source: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 18, p10039. 23p.

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Glucose and Lipid Metabolism Disorders in Adults with Spinal Muscular Atrophy Type 3.

• Authors : Miletić, Marija^1,2 (AUTHOR) ; Stević, Zorica^2,3 (AUTHOR) ; Vujović, Svetlana^1,2 (AUTHOR)

• Source: Diagnostics (2075-4418). Sep2024, Vol. 14 Issue 18, p2078. 11p.

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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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