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• W2078578510 abstract "Purpose of review Spinal muscular atrophy (SMA) is a pediatric neuromuscular condition characterized by progressive proximal muscle weakness. It is one of the most common genetic causes of infant mortality across different races and is caused by mutation of the survival of motor neuron 1 (SMN1) gene on chromosome 5q13. Recent findings To date, there have been many therapeutics developments for SMA targeting various potential pathways such as increasing SMN gene expression, enhancing SMN2 exon 7 inclusion, neuroprotection, cell replacement, and gene therapy. Summary Although SMA remains an incurable disease to date, recent advances in the field of basic and translational research have enhanced our understanding of the pathogenesis of the disease and opened new possibilities for therapeutic intervention. This article reviews and highlights past and current translational research on SMA therapeutics." @default.
• W2078578510 created "2016-06-24" @default.
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• W2078578510 date "2013-12-01" @default.
• W2078578510 modified "2023-09-25" @default.
• W2078578510 title "Current advances in drug development in spinal muscular atrophy" @default.
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• W2078578510 doi "https://doi.org/10.1097/mop.0b013e32836565ac" @default.
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