280

 

1.      Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, vd. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscular Disorders. 01 Mart 2018;28(3):208-15.

2.      Canadian Agency for Drugs and Technologies in Health. Clinical Review Report for Nusinersen. Spinraza, Biogen Canada Inc; 2018. 1-83 s.

3.      Crawford TO, Swoboda KJ, De Vivo DC, Bertini E, Hwu WL, Finkel RS, vd. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle Nerve. 01 Ağustos 2023;68(2):157-70.

4.      Dangouloff T, Botty C, Beaudart C, Servais L, Hiligsmann M. Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments. C. 16, Orphanet Journal of Rare Diseases. BioMed Central Ltd; 2021.

5.      De Vivo DC, Bertini E, Swoboda KJ, Hwu WL, Crawford TO, Finkel RS, vd. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study. Neuromuscular Disorders. 01 Kasım 2019;29(11):842-56.

6.      Dhillon S. Risdiplam: First Approval. Drugs [Internet]. 2020;80(17):1853-8. Erişim adresi: https://doi.org/10.1007/s40265-020-01410-z

7.      Hoffmann J. Ueber chronische spinale Muskelatrophie im Kindesalter, auf familiärer Basis. Dtsch Z Nervenheilkd. 1893;6(3):427-70.

8.      Hoy SM. Nusinersen: First Global Approval. Drugs [Internet]. 2017;77(4):473-9. Erişim adresi: https://doi.org/10.1007/s40265-017-0711-7

9.      Hoy SM. Onasemnogene Abeparvovec: First Global Approval. Drugs [Internet]. 2019;79(11):1255-62. Erişim adresi: https://doi.org/10.1007/s40265-019-01162-5

10.  Keinath MC, Prior DE, Prior TW. Spinal muscular atrophy: Mutations, testing, and clinical relevance. C. 14, Application of Clinical Genetics. Dove Medical Press Ltd; 2021. s. 11-25.

11.  Lefebvre S, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, vd. Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene. C. 80, Cell. 1995.

12.  Paik J. Risdiplam: A Review in Spinal Muscular Atrophy. CNS Drugs [Internet]. 2022;36(4):401-10. Erişim adresi: https://doi.org/10.1007/s40263-022-00910-8

13.  Prior TW, Leach ME, Finanger EL, Adam MP, Feldman J, Mirzaa GM. Spinal Muscular Atrophy [Internet]. Seattle; 2024. 1-31 s. Erişim adresi: https://www.ncbi.nlm.nih.gov/books/

14.  Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, vd. Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA). J Med Chem. 09 Ağustos 2018;61(15):6501-17.

15.  Rudnik-Schöneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, vd. Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet [Internet]. 01 Ekim 2008;45(10):635. Erişim adresi: http://jmg.bmj.com/content/45/10/635.abstract

16.  Schroth MK, Deans J, Bharucha Goebel DX, Burnette WB, Darras BT, Elsheikh BH, vd. Spinal Muscular Atrophy Update in Best Practices Recommendations for Treatment Considerations. Neurol Clin Pract. 08 Ekim 2024;15(1).

17.  Sosyal Güvenlik Kurumu Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ 30115 [Internet]. 2017. Erişim adresi: https://www.resmigazete.gov.tr/eskiler/2017/07/20170705-8.htm

Sosyal Güvenlik Kurumu Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ 30673 [Internet]. 2019. Erişim adresi: https://www.resmigazete.gov.tr/eskiler/2019/02/20190201-8.pdf

Sosyal Güvenlik Kurumu Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ 32882 [Internet]. 2025. Erişim adresi: https://www.resmigazete.gov.tr/eskiler/2025/04/20250426-4.pdf

Strauss KA, Farrar MA, Muntoni F, Saito K, Mendell JR, Servais L, vd. Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nat Med. 01 Temmuz 2022;28(7):1390-7.

T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü Çocuk ve Ergen Sağlığı Dairesi Başkanlığı. Spinal Musküler Atrofi Taşıyıcı Tarama Programı Saha Rehberi [Internet]. Ankara; 2023. Erişim adresi: https://hsgm.saglik.gov.tr/depo/birimler/cocuk-ergen-sagligi-db/Programlar/EO_SMA_TASIYICI_TARAMA_PROGRAMI_SAHA_REHBERI.pdf

T.C. Sağlık Bakanlığı. SMA Bilim Kurulu Toplantısına İlişkin Açıklama [Internet]. 2023. Erişim adresi: https://www.saglik.gov.tr/TR-94662/sma-bilim-kurulu-toplantisina-iliskin-aciklama.html

Türkiye Cumhuriyeti Sağlık Bakanlığı Sağlık Hizmetleri Genel Müdürlüğü. Spinal Musküler Atrofi (SMA) Klinik Protokolü [Internet]. Ankara; 2022 Haz [a.yer 05 Kasım 2025]. Erişim adresi: https://shgmargestddb.saglik.gov.tr

Van Der Heul AMB, Cuppen I, Wadman RI, Asselman F, Schoenmakers MAGC, Van De Woude DR, vd. Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: An Observational Study. J Neuromuscul Dis. 2020;7(3):323-30.

Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC, vd. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - A literature review. C. 12, Orphanet Journal of Rare Diseases. BioMed Central Ltd.; 2017.

Werdnig G. Zwei frühinfantile hereditäre Fälle von progressiver Muskelatrophie unter dem Bilde der Dystrophie, aber anf neurotischer Grundlage. Arch Psychiatr Nervenkr. 1891;2(22):437-80.

Wijngaarde CA, Stam M, Otto LAM, van Eijk RPA, Cuppen I, Veldhoen ES, vd. Population-based analysis of survival in spinal muscular atrophy. Neurology [Internet]. 14 Nisan 2020;94(15):e1634-44. Erişim adresi: https://doi.org/10.1212/WNL.0000000000009248

Winnicka E, Łabuz A, Kułaga Z, Grochowski T, Socha P. Difficulties of Eating and Masticating Solid Food in Children with Spinal Muscular Atrophy—Preliminary Study †. Nutrients . 01 Ağustos 2025;17(15).

Yeo CJJ, Tizzano EF, Darras BT. Challenges and opportunities in spinal muscular atrophy therapeutics. C. 23, The Lancet Neurology. Elsevier Ltd; 2024. s. 205-18.

ideasoft e-ticaret paketleri ile hazırlandı.