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2024 update: European consensus statement on gene therapy for spinal muscular atrophy

• Authors : Kirschner, J; Bernert, G; Butoianu, N

Subjects: Medicin och hälsovetenskap

• Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 51:73-78

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Male Reproduction in Spinal Muscular Atrophy (SMA) and the Potential Impact of Oral Survival of Motor Neuron 2 (SMN2) Pre-mRNA Splicing Modifiers.

• Authors : Bar-Chama, Natan^1,2,3 (AUTHOR) ; Elsheikh, Bakri⁴ (AUTHOR); Hewamadduma, Channa⁵ (AUTHOR)

• Source: Neurology & Therapy. Aug2024, Vol. 13 Issue 4, p933-947. 15p.

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Disrupted individual‐level morphological brain network in spinal muscular atrophy types 2 and 3.

• Authors : Li, Yufen¹ (AUTHOR); Nie, Huirong¹ (AUTHOR); Xiang, Pei¹ (AUTHOR)

• Source: CNS Neuroscience & Therapeutics. Jun2024, Vol. 30 Issue 6, p1-11. 11p.

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Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait.

• Authors : AlTawari, Asma¹ (AUTHOR) ; Zakaria, Mohammad² (AUTHOR); Kamel, Walaa³ (AUTHOR)

• Source: Neurology International. Jun2024, Vol. 16 Issue 3, p631-642. 12p.

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Communicating the diagnosis of spinal muscular atrophy in endogamous vs. non-endogamous regions.

• Authors : Fernandes, Isabella Araujo Mota¹ (AUTHOR) ; Menezes, Renata Oliveira Almeida² (AUTHOR); Rego, Guilhermina³ (AUTHOR)

• Source: BMC Neurology. 7/26/2024, Vol. 24 Issue 1, p1-7. 7p.

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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. 7/26/2024, Vol. 19 Issue 1, p1-9. 9p.

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Functional and Structural Changes in Patients with Spinal Muscular Atrophy Treated in Poland during 12-Month Follow-Up: A Prospective Cohort Study.

• Authors : Bieniaszewska, Aleksandra^1,2 (AUTHOR) ; Sobieska, Magdalena³ (AUTHOR) ; Gajewska, Ewa¹ (AUTHOR)

• Source: Journal of Clinical Medicine. Jul2024, Vol. 13 Issue 14, p4232. 14p.

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The Impact of Comorbidities and Motor Impairment on the Quality of Life of Patients with Spinal Muscular Atrophy: A Case–Control Study.

• Authors : Błauciak, Małgorzata¹ (AUTHOR) ; Ubysz, Jakub¹ (AUTHOR) ; Pokryszko-Dragan, Anna¹ (AUTHOR)

• Source: Journal of Clinical Medicine. Jul2024, Vol. 13 Issue 14, p4184. 12p.

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A horizontal and perpendicular interlaminar approach for intrathecal nusinersen injection in patients with spinal muscular atrophy and scoliosis: an observational study.

• Authors : Huang, Chanyan¹ (AUTHOR); Zhang, Yuanjia¹ (AUTHOR); Diedrich, Daniel A.² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 7/15/2024, Vol. 19 Issue 1, p1-10. 10p.

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Preemptive dual therapy for children at risk for infantile‐onset spinal muscular atrophy.

• Authors : Matesanz, Susan E.¹ (AUTHOR); Brigatti, Karlla W.² (AUTHOR); Young, Millie² (AUTHOR)

• Source: Annals of Clinical & Translational Neurology. Jul2024, Vol. 11 Issue 7, p1868-1878. 11p.

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