Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data [PDF]
, 2022 Judit Erdös, Claudia Wild
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Recent Progress in Gene Delivery Systems Based on Gemini‐Surfactant
MedComm – Future Medicine, Volume 4, Issue 3, September 2025.Gene delivery is a key area in biomedicine, where nucleic acids are delivered into cells to treat diseases by modulating genes. The low micelle concentration, effective nucleic acid complexation, and low immunogenicity make Gemini surfactants promising gene delivery vectors.
Peng Qian +5 more
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Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence. [PDF]
, 1978 John Pearn
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POSB339 Real-World Adherence of Nusinersen for the Treatment of Spinal Muscular Atrophy (SMA) Using US Large Administrative Claims Dataset [PDF]
, 2022 Nicole B. Johnson +4 more
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Alternative Splicing Regulation in Metabolic Disorders
Obesity Reviews, Volume 26, Issue 9, September 2025.ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley +1 more source
Therapeutic activity of modified U1 core spliceosomal particles
Nature Communications, 2016 Modification of the spliceosome is being tested as a potential therapy for exon-skipping diseases, such as spinal muscular atrophy (SMA). Here the authors show that 70K and stem loop IV structural elements of a modified U1 particle are essential for ...
Malgorzata Ewa Rogalska +6 more
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Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome. [PDF]
, 1991 Z Borochowitz, Bruce Glick, S Blazer
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Correction to: Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA) [PDF]
, 2022 Noman Paracha +3 more
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Quality of Life of People With Neuromuscular Diseases: The Role of Stigma
Muscle &Nerve, Volume 72, Issue 2, Page 274-285, August 2025.ABSTRACT Introduction/Aims Stigma is thought to have a profound impact on quality of life (QoL) among people with neuromuscular diseases (NMD), but empirical evidence is limited. This study sought to explore associations of enacted stigma (social exclusion) and felt stigma (shame, fear of exclusion) with QoL.
Marion Sommers‐Spijkerman +5 more
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Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients
ChildrenSpinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
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