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Home All issues Volume 36 / No 2 (Février 2020) Med Sci (Paris), 36 2 (2020) 141-146 References
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Issue
Med Sci (Paris)
Volume 36, Number 2, Février 2020
Page(s) 141 - 146
Section M/S Revues
DOI https://doi.org/10.1051/medsci/2020011
Published online 04 March 2020
  1. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Genet 2019; Sep 16. doi: 10.1038/s41431-019-0508-0. [Google Scholar]
  2. Weissenbach J, Gyapay G, Dib C, et al. A second-generation linkage map of the human genome. Nature 1992 ; 359 : 794–801. [Google Scholar]
  3. Cohen D, Chumakov I, Weissenbach J. A first-generation physical map of the human genome. Nature 1993 ; 366 : 698–701. [Google Scholar]
  4. Lefebvre S, Bürglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995 ; 80 : 155–165. [CrossRef] [PubMed] [Google Scholar]
  5. Liu Q, Dreyfuss G. A novel nuclear structure containing the survival of motor neurons protein. EMBO J 1996 ; 15 : 3555–3565. [PubMed] [Google Scholar]
  6. Zhang Z, Pinto AM, Wan L, et al. Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy. Proc Natl Acad Sci USA 2013 ; 110 : 19348–19353. [CrossRef] [Google Scholar]
  7. Ottesen EW. ISS-N1 makes the first FDA-approved drug for spinal muscular atrophy. Transl Neurosci 2017 ; 8 : 1–6. [PubMed] [Google Scholar]
  8. Darras BT, Chiriboga CA, Iannaccone ST, et al. Nusinersen in later-onset spinal muscular atrophy: long-term results from the phase 1/2 studies. Neurology 2019 ; 92 : e2492–e2506. [Google Scholar]
  9. Finkel R, Chiriboga C, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 2016 ; 388 : 3017–3026. [CrossRef] [PubMed] [Google Scholar]
  10. De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscul Disord 2019 ; S0960–8966 : 31127–31127. [Google Scholar]
  11. Guettier-Sigrist S, Coupin G, Braun S, et al. On the possible role of muscle in the pathogenesis of spinal muscular atrophy. Fundam Clin Pharmacol 2001 ; 15 : 31–40. [CrossRef] [PubMed] [Google Scholar]
  12. Dominguez E, Marais T, Chatauret N, et al. Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice. Hum Mol Genet 2011 ; 20 : 681–693. [CrossRef] [PubMed] [Google Scholar]
  13. Foust KD, Nurre E, Montgomery CL, et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol 2009 ; 27 : 59–65. [CrossRef] [PubMed] [Google Scholar]
  14. ICER - Institute for Clinical and Economical Review - A look at Spinraza and ZolgenSMA, April 2019, pp. 1–8. https://icer-review.org/wp-content/uploads/2019/04/ICER_SMA_RAAG_040319.pdf). [Google Scholar]
  15. Dangouloff T, Servais L. Clinical evidence supporting early treatment of patients with spinal muscular atrophy: current perspectives. Ther Clin Risk Manag 2019 ; 15 : 1153–1161. [PubMed] [Google Scholar]
  16. Poirier A, Weetall M, Heinig K, et al. Risdiplam distributes and increases SMN protein in both the central nervous system and peripheral organs. Pharmacol Res Perspect 2018 ; 6 : e00447. [CrossRef] [PubMed] [Google Scholar]
  17. Bowerman M, Becker CG, Yáñez-Muñoz RJ, et al. Therapeutic strategies for spinal muscular atrophy: SMN and beyond. Dis Model Mech 2017 ; 10 : 943–954. [Google Scholar]
  18. Barkats M. SMA : de la découverte du gène à la thérapie génique. Med Sci (Paris) 2020; 36 : 137–40. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]

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