Journal article : Review
Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps
- Abstract:
-
Spinal muscular atrophy (SMA) is a recessive disorder caused by a mutation in the survival motor neuron 1 gene (SMN1); it affects 1 in 11 000 newborn infants. The most severe and most common form, type 1 SMA, is associated with early mortality in most cases and severe disability in survivors. Nusinersen, an antisense oligonucleotide, promotes production of full-length protein from the pseudogene SMN2. Nusinersen treatment prolongs survival of patients with type 1 SMA and allows motor mileston...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Publisher copy:
- 10.1111/dmcn.14027
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Bibliographic Details
- Publisher:
- Wiley Publisher's website
- Journal:
- Developmental Medicine and Child Neurology Journal website
- Volume:
- 61
- Issue:
- 1
- Pages:
- 19-24
- Publication date:
- 2018-09-17
- Acceptance date:
- 2018-07-25
- DOI:
- EISSN:
-
1469-8749
- ISSN:
-
0012-1622
- Pmid:
-
30221755
Item Description
- Language:
- English
- Keywords:
- Subtype:
- Review
- Pubs id:
-
1092840
- Local pid:
- pubs:1092840
- Deposit date:
- 2020-03-12
Terms of use
- Copyright holder:
- Mac Keith Press
- Copyright date:
- 2018
- Rights statement:
- ©2018 Mac Keith Press
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