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Editorial

Funding for Spinal Muscular Atrophy Research must Continue

ORCID Icon
Article: FNL10 | Received 08 Feb 2019, Accepted 22 Feb 2019, Published online: 05 Jun 2019

References

  • PearnJ. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J. Med. Genet. 15(6), 409–413 (1978).
  • CrawfordTO, PardoCA. The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis. 3(2), 97–110 (1996).
  • LefebvreS, BürglenL, ReboulletSet al.Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 80(1), 155–165 (1995).
  • LorsonCL, HahnenE, AndrophyEJ, WirthB. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl Acad. Sci. USA 96(11), 6307–6311 (1999).
  • SchrankB, GötzR, GunnersenJMet al.Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl Acad. Sci. USA 94(18), 9920–9925 (1997).
  • LefebvreS, BurletP, LiuQet al.Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 16(3), 265–269 (1997).
  • WoodMJA, TalbotK, BowermanM. Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape. Hum. Mol. Genet. 26(R2), R151–R159 (2017).
  • GidaroT, ServaisL. Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Dev. Med. Child Neurol. 61(1), 19–24 (2019).
  • FinkelRS, MercuriE, DarrasBTet al.Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N. Engl. J. Med. 377(18), 1723–1732 (2017).
  • FinkelRS, ChiribogaCA, VajsarJet al.Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet Lond. Engl. 388(10063), 3017–3026 (2016).
  • BowermanM, BeckerCG, Yáñez-MuñozRJet al.Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis. Model. Mech. 10(8), 943–954 (2017).
  • PechmannA, LangerT, SchorlingDet al.Evaluation of children with SMA type 1 under treatment with Nusinersen within the expanded access program in germany. J. Neuromuscul. Dis. 5(2), 135–143 (2018).
  • MessinaS, PaneM, SansoneVet al.Expanded access program with Nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience. Neuromuscul. Disord. 27(12), 1084–1086 (2017).
  • Aragon-GawinskaK, SeferianAM, DaronAet al.Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: a cohort study. Neurology 91(14), e1312–e1318 (2018).
  • FarrarMA, TeohHL, CareyKAet al.Nusinersen for SMA: expanded access programme. J. Neurol. Neurosurg. Psychiatry. 89(9), 937–942 (2018).
  • BertiniE, HwuW-L, ReynaSPet al.Efficacy and safety of nusinersen in infants with presymptomatic spinal muscular atrophy (SMA): Interim results from the NURTURE study. Eur. J. Paediatr. Neurol. 21, e14 (2017).
  • MontesJ, YoungSD, MazzoneEet al.Ambulatory function and fatigue in nusinersen-treated children with spinal muscular atrophy. (P2.322). Neurology 90(15 Supplement),  P2.322 (2018).
  • PacioneM, SiskindCE, DayJW, TaborHK. Perspectives on Spinraza (Nusinersen) treatment study: views of individuals and parents of children diagnosed with spinal muscular atrophy. J. Neuromuscul. Dis. 6(1), 119–131 (2018).
  • HamiltonG, GillingwaterTH. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol. Med. 19(1), 40–50 (2013).
  • Christie-BrownV, MitchellJ, TalbotK. The SMA Trust: the role of a disease-focused research charity in developing treatments for SMA. Gene Ther. 24(9), 544–546 (2017).

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