References
1. Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation.Neuromuscul Disord. 2002;12(10):926-929.
2. Eagle M, Bourke J, Bullock R, et al. Managing Duchenne muscular dystrophy–the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord.2007;17(6):470-475.
3. Passamano L, Taglia A, Palladino A, et al. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients.Acta Myol. 2012;31(2):121-125.
4. Landfeldt E, Thompson R, Sejersen T, McMillan HJ, Kirschner J, Lochmuller H. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. 2020.
5. Rall S, Grimm T. Survival in Duchenne muscular dystrophy. Acta Myol. 2012;31(2):117-120.
6. Saito T, Kawai M, Kimura E, et al. Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan. Neuromuscul Disord.2017;27(2):107-114.
7. Mercuri E, Muntoni F, Osorio AN, et al. Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study. J Comp Eff Res. 2020;9(5):341-360.
8. Khan N, Eliopoulos H, Han L, et al. Eteplirsen Treatment Attenuates Respiratory Decline in Ambulatory and Non-Ambulatory Patients with Duchenne Muscular Dystrophy. J Neuromuscul Dis.2019;6(2):213-225.
9. Salmaninejad A, Jafari Abarghan Y, Bozorg Qomi S, et al. Common therapeutic advances for Duchenne muscular dystrophy (DMD). Int J Neurosci. 2020:1-20.
10. Frank DE, Schnell FJ, Akana C, et al. Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.Neurology. 2020;94(21):e2270-e2282.
11. Moretti A, Fonteyne L, Giesert F, et al. Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy. Nat Med. 2020;26(2):207-214.
12. Mendell JR, Sahenk Z, Lehman K, et al. Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy: A Nonrandomized Controlled Trial. JAMA Neurol. 2020.
13. Rideau Y, Jankowski LW, Grellet J. Respiratory function in the muscular dystrophies. Muscle Nerve. 1981;4(2):155-164.
14. Humbertclaude V, Hamroun D, Bezzou K, et al. Motor and respiratory heterogeneity in Duchenne patients: implication for clinical trials.Eur J Paediatr Neurol. 2012;16(2):149-160.
15. Wang M, Birnkrant DJ, Super DM, Jacobs IB, Bahler RC. Progressive left ventricular dysfunction and long-term outcomes in patients with Duchenne muscular dystrophy receiving cardiopulmonary therapies.Open Heart. 2018;5(1):e000783.
16. Birnkrant DJ, Ashwath ML, Noritz GH, et al. Cardiac and pulmonary function variability in Duchenne/Becker muscular dystrophy: an initial report. J Child Neurol. 2010;25(9):1110-1115.
17. Jin JB, Carter JC, Sheehan DW, Birnkrant DJ. Cardiopulmonary phenotypic discordance is common in Duchenne muscular dystrophy.Pediatr Pulmonol. 2019;54(2):186-193.
18. Ashwath ML, Jacobs IB, Crowe CA, Ashwath RC, Super DM, Bahler RC. Left ventricular dysfunction in duchenne muscular dystrophy and genotype. Am J Cardiol. 2014;114(2):284-289.
19. Phillips MF, Quinlivan RC, Edwards RH, Calverley PM. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med.2001;164(12):2191-2194.
20. Birnkrant DJ, Ararat E, Mhanna MJ. Cardiac phenotype determines survival in Duchenne muscular dystrophy. Pediatr Pulmonol.2016;51(1):70-76.
21. McDonald CM, Campbell C, Torricelli RE, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-1498.
22. Shimizu-Motohashi Y, Murakami T, Kimura E, Komaki H, Watanabe N. Exon skipping for Duchenne muscular dystrophy: a systematic review and meta-analysis. Orphanet J Rare Dis. 2018;13(1):93.
23. Mendell JR, Rodino-Klapac LR, Sahenk Z, et al. Eteplirsen for the treatment of Duchenne muscular dystrophy. Ann Neurol.2013;74(5):637-647.
24. Buyse GM, Goemans N, van den Hauwe M, et al. Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: results from a 12 month, double-blind, randomized placebo-controlled trial.Neuromuscul Disord. 2011;21(6):396-405.
25. Servais L, Straathof CSM, Schara U, et al. Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy. Neuromuscul Disord. 2020;30(1):5-16.
26. Bello L, Pegoraro E. The ”Usual Suspects”: Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy. J Clin Med. 2019;8(5).
27. Spitali P, Zaharieva I, Bohringer S, et al. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.Eur J Hum Genet. 2020;28(6):815-825.
28. Yamamoto T, Awano H, Zhang Z, et al. Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions. Circ Genom Precis Med. 2018;11(1):e001782.
29. Vo AH, McNally EM. Modifier genes and their effect on Duchenne muscular dystrophy. Curr Opin Neurol. 2015;28(5):528-534.
30. Van Dorn CS, Puchalski MD, Weng HY, Bleyl SB, Butterfield RJ, Williams RV. DMD mutation and LTBP4 haplotype do not predict onset of left ventricular dysfunction in Duchenne muscular dystrophy.Cardiol Young. 2018;28(7):910-915.
31. Bello L, D’Angelo G, Villa M, et al. Genetic modifiers of respiratory function in Duchenne muscular dystrophy. Ann Clin Transl Neurol. 2020;7(5):786-798.
32. Vianello S, Pantic B, Fusto A, et al. SPP1 genotype and glucocorticoid treatment modify osteopontin expression in Duchenne muscular dystrophy cells. Hum Mol Genet. 2017;26(17):3342-3351.