Spinal muscular atrophy - the dawning of a new era.

Michelle A Farrar, Matthew C Kiernan
Author Information
  1. Michelle A Farrar: Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, UNSW Sydney, Sydney, New South Wales, Australia. m.farrar@unsw.edu.au. ORCID
  2. Matthew C Kiernan: Brain & Mind Centre and Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia. ORCID

Abstract

No abstract text available.

References

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  7. Kariyawasam, D. S. T., Russell, J. S., Wiley, V., Alexander, I. E. & Farrar, M. A. The implementation of newborn screening for spinal muscular atrophy: the Australian experience. Genet. Med. 22, 557–565 (2020). [PMID: 31607747]
  8. Glascock, J. et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul. Dis. 7, 97–100 (2020). [PMID: 32007960]
  9. Beauchamp, K. A., Johansen Taber, K. A. & Muzzey, D. Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen. Genet. Med. 21, 1948–1957 (2019). [PMID: 30760891]
  10. Kariyawasam, D., Alexander, I. E., Kurian, M. & Farrar, M. A. Great expectations: virus-mediated gene therapy in neurological disorders. J. Neurol. Neurosurg. Psychiatry 91, 849–860 (2020). [PMID: 32503884]

MeSH Term

Humans
Muscular Atrophy, Spinal
Spinal Muscular Atrophies of Childhood

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