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• W2105989886 endingPage "R118" @default.
• W2105989886 startingPage "R111" @default.
• W2105989886 abstract "Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of Survival Motor Neuron-1 (SMN1). The clinical features of the disease are caused by specific degeneration of α-motor neurons in the spinal cord, leading to muscle weakness, atrophy and, in the majority of cases, premature death. A highly homologous copy gene (SMN2) is retained in almost all SMA patients but fails to generate adequate levels of SMN protein due to its defective splicing pattern. The severity of the SMA phenotype is inversely correlated with SMN2 copy number and the level of full-length SMN protein produced by SMN2 (∼10–15% compared with SMN1). The natural history of SMA has been altered over the past several decades, primarily through supportive care measures, but an effective treatment does not presently exist. However, the common genetic etiology and recent progress in pre-clinical models suggest that SMA is well-suited for the development of therapeutic regimens. We summarize recent advances in translational research that hold promise for the progression towards clinical trials." @default.
• W2105989886 created "2016-06-24" @default.
• W2105989886 creator A5053176977 @default.
• W2105989886 creator A5060349063 @default.
• W2105989886 creator A5083079765 @default.
• W2105989886 date "2010-04-13" @default.
• W2105989886 modified "2023-10-18" @default.
• W2105989886 title "Spinal muscular atrophy: mechanisms and therapeutic strategies" @default.
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• W2105989886 doi "https://doi.org/10.1093/hmg/ddq147" @default.
• W2105989886 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2875050" @default.
• W2105989886 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/20392710" @default.
• W2105989886 hasPublicationYear "2010" @default.
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