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Risdiplam for the treatment of spinal muscular atrophy
S.S. Korsakov Journal of Neurology and PsychiatrySpinal muscular atrophy (SMA) is a devastating disease that is the leading genetic cause of death in infants and young children. It includes a broad spectrum of phenotypes that are classified into clinical groups based on the age of onset and maximum motor function achieved.
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Clinical Application of Risdiplam in 5q Spinal Muscular Atrophy: A Narrative Review
British Journal of Hospital Medicine5q spinal muscular atrophy (SMA) is caused by mutations in the survival motor neuron (SMN) gene located on chromosome 5, leading to insufficient SMN protein levels. Risdiplam is an RNA splicing modifier that modifies pre-mRNA splicing of the SMN2 gene, thereby promoting the production of functional survival motor neuron protein (SMN-fl).
Tong, Zhao +4 more
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Zulassungserweiterung für Risdiplam
DNP – Die Neurologie & Psychiatrie, 2023openaire +1 more source
Risdiplam: new opportunities but more to be done
The Lancet Neurology, 2022openaire +2 more sources
Children With Spinal Muscular Atrophy Treated With Nusinersen/Risdiplam
D105. OVERCOMING OBSTACLES: APPROACHES TO PEDIATRIC SLEEP SCREENING AND TREATMENT, 2023Chacko, A. +4 more
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