Rujukan Atrofi otot spina

  1. 1 2 3 4 5 6 7 "Spinal muscular atrophy". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Dicapai pada 27 May 2019.
  2. 1 2 3 4 5 6 7 8 9 "Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Dicapai pada 27 May 2019.
  3. ↑ "Spinal muscular atrophy". nhs.uk (dalam bahasa Inggeris). 2017-10-23. Dicapai pada 2020-10-24.
  4. 1 2 "Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov (dalam bahasa Inggeris). Dicapai pada 2020-10-24.
  5. ↑ "Spinal Muscular Atrophy (SMA) | Boston Children's Hospital". www.childrenshospital.org. Dicapai pada 2020-10-25.
  6. ↑ "FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality". FDA (dalam bahasa Inggeris). 24 May 2019. Dicapai pada 27 May 2019.
  7. ↑ "Spinal Muscular Atrophy Fact Sheet | National Institute of Neurological Disorders and Stroke". NINDS. Dicapai pada 27 May 2019.
  8. 1 2 3 4 5 "Spinal muscular atrophy". Genetics Home Reference (dalam bahasa Inggeris). Dicapai pada 27 May 2019.
  9. ↑ "Spinal Muscular Atrophy – Conditions | Children's National". childrensnational.org. Dicapai pada 2020-10-25.
  10. ↑ Prior, Thomas W.; Leach, Meganne E.; Finanger, Erika (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (penyunting), "Spinal Muscular Atrophy", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301526, dicapai pada 2020-10-25
  11. ↑ Verhaart, Ingrid E. C.; Robertson, Agata; Leary, Rebecca; McMacken, Grace; König, Kirsten; Kirschner, Janbernd; Jones, Cynthia C.; Cook, Suzanne F.; Lochmüller, Hanns (July 2017). "A multi-source approach to determine SMA incidence and research ready population". Journal of Neurology (dalam bahasa Inggeris). 264 (7): 1465–1473. doi:10.1007/s00415-017-8549-1. ISSN 0340-5354. PMC 5502065. PMID 28634652.
  12. ↑ "Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2–13.3". Nature. 344 (6266): 540–1. April 1990. Bibcode:1990Natur.344..540B. doi:10.1038/344540a0. PMID 2320125.
  13. ↑ "Spinal muscular atrophy". Genetics Home Reference. Dicapai pada 2019-05-15.
  14. ↑ "Consensus statement for standard of care in spinal muscular atrophy". Journal of Child Neurology. 22 (8): 1027–49. August 2007. doi:10.1177/0883073807305788. PMID 17761659.
  15. 1 2 Oskoui M, Darras BT, DeVivo DC (2017). "Chapter 1". Dalam Sumner CJ, Paushkin S, Ko CP (penyunting). Spinal Muscular Atrophy: Disease Mechanisms. Elsevier. ISBN 978-0-12-803685-3.
  16. 1 2 3 "Spinraza- nusinersen injection, solution". DailyMed. 30 June 2020. Dicapai pada 8 August 2020.
  17. ↑ Grant, Charley (2016-12-27). "Surprise Drug Approval Is Holiday Gift for Biogen". The Wall Street Journal. ISSN 0099-9660. Dicapai pada 2016-12-27.
  18. ↑ "Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy". New England Journal of Medicine. 377 (18): 1723–32. November 2017. doi:10.1056/NEJMoa1702752. PMID 29091570. Unknown parameter |displayauthors= ignored (bantuan)
  19. ↑ Wadman, Renske I.; van der Pol, W. Ludo; Bosboom, Wendy Mj; Asselman, Fay-Lynn; van den Berg, Leonard H.; Iannaccone, Susan T.; Vrancken, Alexander Fje (1 June 2020). "Drug treatment for spinal muscular atrophy types II and III". The Cochrane Database of Systematic Reviews. 1 (1): CD006282. doi:10.1002/14651858.CD006282.pub5. ISSN 1469-493X. PMC 6995983. PMID 32006461.
  20. ↑ "Spinraza (nusinersen) Injection". U.S. Food and Drug Administration (FDA). 18 January 2017. Dicapai pada 8 August 2020.
  21. ↑ "Spinraza EPAR". European Medicines Agency (EMA). Dicapai pada 8 August 2020.
  22. ↑ "Spinraza (Nusinersen) Approved in the European Union as First Treatment for Spinal Muscular Atrophy". Agence France-Presse (AFP). 2017-06-01. Dicapai pada 2017-06-01.
  23. ↑ "Zolgensma 2 x 1013 vector genomes/mL solution for infusion". www.medicines.org.uk. Dicapai pada 8 August 2020.
  24. ↑ "Zolgensma- onasemnogene abeparvovec-xioi kit". DailyMed. 24 May 2019. Dicapai pada 8 August 2020.
  25. ↑ "FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality" (Siaran akhbar). 24 May 2019. Dicapai pada 27 May 2019. Rencana ini mengandungi teks dari suatu penerbitan yang kini berada dalam domain awam:
  26. ↑ "Zolgensma". U.S. Food and Drug Administration (FDA). 24 May 2019. Dicapai pada 8 August 2020.
  27. ↑ "Zolgensma EPAR". European Medicines Agency (EMA). 24 March 2020. Dicapai pada 8 August 2020.
  28. ↑ "Novartis receives approval from Japanese Ministry of Health, Labour and Welfare for Zolgensma the only gene therapy for patients with spinal muscular atrophy (SMA)" (Siaran akhbar). Dicapai pada 8 August 2020.
  29. 1 2 "FDA Approves Oral Treatment for Spinal Muscular Atrophy". U.S. Food and Drug Administration (FDA) (Siaran akhbar). 7 August 2020. Dicapai pada 7 August 2020.
  30. ↑ "Evrysdi (risdiplam) for oral solution" (PDF). Genentech. Dicapai pada 8 August 2020.
  31. ↑ Maria Joao Almeida (2016-09-08). "RG7916". BioNews Services. Dicapai pada 2017-10-08.
  32. ↑ Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, dll. (May 2016). "Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy". Human Molecular Genetics. 25 (10): 1885–1899. doi:10.1093/hmg/ddw062. PMC 5062580. PMID 26931466.
  33. ↑ Darras B, Finkel R (2017). Spinal Muscular Atrophy. United Kingdom, United States: Elsevier. m/s. 417. ISBN 978-0-12-803685-3.
  34. ↑ Yuan N, Wang CH, Trela A, Albanese CT (June 2007). "Laparoscopic Nissen fundoplication during gastrostomy tube placement and noninvasive ventilation may improve survival in type I and severe type II spinal muscular atrophy". Journal of Child Neurology. 22 (6): 727–31. doi:10.1177/0883073807304009. PMID 17641258. S2CID 38799022.
  35. ↑ Bach JR (May 2007). "Medical considerations of long-term survival of Werdnig-Hoffmann disease". American Journal of Physical Medicine & Rehabilitation. 86 (5): 349–55. doi:10.1097/PHM.0b013e31804b1d66. PMID 17449979. S2CID 39989993.
  36. ↑ Oskoui M, Levy G, Garland CJ, Gray JM, O'Hagen J, De Vivo DC, Kaufmann P (November 2007). "The changing natural history of spinal muscular atrophy type 1". Neurology. 69 (20): 1931–6. doi:10.1212/01.wnl.0000290830.40544.b9. PMID 17998484. S2CID 7528894.