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[1]Mercuri E, Sumner CJ, Muntoni F, Darras BT, Finkel RS. Spinal muscular atrophy. Nat Rev Dis Primers. 2022 Aug 4;8(1):52.

[2]Wirth B. Spinal Muscular Atrophy: In the Challenge Lies a Solution. Trends Neurosci. 2021 Apr;44(4):306-322.

[3]Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N. Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next. Annu Rev Genomics Hum Genet. 2020 Aug 31;21:231-261.

[4]Nicolau S, Waldrop MA, Connolly AM, Mendell JR. Spinal Muscular Atrophy. Semin Pediatr Neurol. 2021 Apr;37:100878.

[5]Meneri M, Abati E, Gagliardi D, Faravelli I, Parente V, Ratti A, Verde F, Ticozzi N, Comi GP, Ottoboni L, Corti S. Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples. Biomedicines. 2023 Apr 23;11(5):1254.

[6]Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015 Nov;33(4):831-46.

[7]Day JW, Howell K, Place A, Long K, Rossello J, Kertesz N, Nomikos G. Advances and limitations for the treatment of spinal muscular atrophy. BMC Pediatr. 2022 Nov 3;22(1):632.

[8]Butchbach MER. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development. Int J Mol Sci. 2021 Jul 23;22(15):7896.

[9]Haque US, Yokota T. Recent Progress in Gene-Targeting Therapies for Spinal Muscular Atrophy: Promises and Challenges. Genes (Basel). 2024 Jul 30;15(8):999.

[10]Cuscó I, Bernal S, Blasco-Pérez L, Calucho M, Alias L, Fuentes-Prior P, Tizzano EF. Practical guidelines to manage discordant situations of SMN2 copy number in patients with spinal muscular atrophy. Neurol Genet. 2020 Nov 18;6(6):e530.

[11]Calucho M, Bernal S, Alías L, March F, Venceslá A, Rodríguez-Álvarez FJ, Aller E, Fernández RM, Borrego S, Millán JM, Hernández-Chico C, Cuscó I, Fuentes-Prior P, Tizzano EF. Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018 Mar;28(3):208-215.

[12]FiercePharma. (2025, February 12). Roche nabs FDA nod: Evrysdi tablets gaining potential convenience edge over SMA meds Biogen. Retrieved March 20, 2025, from https://www.fiercepharma.com/pharma/roche-nabs-fda-nod-evrysdi-tablets-gaining-potential-convenience-edge-over-sma-meds-biogen

[13]Edens BM, Ajroud-Driss S, Ma L, Ma YC. Molecular mechanisms and animal models of spinal muscular atrophy. Biochim Biophys Acta. 2015 Apr;1852(4):685-92.

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