1. Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, et al. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017;81:355-68.
2. Groen EJN, Talbot K, Gillingwater TH. Advances in therapy for spinal muscular atrophy: promises and challenges. Nature reviews. Neurology. 2018;14:214-24.
3. Schmalbruch H, Haase G. Spinal Muscular Atrophy: Present State. Brain Pathology. 2001;11:231-47.
4. Ahmad S, Bhatia K, Kannan A, Gangwan L. Molecular Mechanisms of Neurodegeneration in Spinal Muscular Atrophy. J Exp Neurosci. 2016;10:39-49.
5. Oskoui M, Kaufmann P. Spinal Muscular Atrophy. Neurotherapeutics. 2008;5:499-506.
6. Russman BS. Spinal Muscular Atrophy: Clinical Classification and Disease Heterogeneity. Journal of Child Neurology. 2016;22:946-51.
7. Mercuri E, Bertini E, Iannaccone ST. Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 2012;11:443-52.
8. Faravelli I, Nizzardo M, Comi GP, Corti S. Spinal muscular atrophy--recent therapeutic advances for an old challenge. Nat Rev Neurol. 2015;11:351-9.
9. Cynthia CJ, Suzanne FC, Jill J, Lisa B, Sandra PR, John S, et al. Spinal Muscular Atrophy (SMA) Subtype Concordance in Siblings: Findings From the Cure SMA Cohort. J Neuromuscul Dis. 2020;7:33-40.
10. Shababi M, Lorson CL, Rudnik Schöneborn SS. Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease? Journal of Anatomy. 2014;224:15-28.
11. Hamilton G, Gillingwater TH. Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine 2013;19:40-50.
12. Nash LA, Burns JK, Chardon JW, Kothary R, Parks RJ. Spinal Muscular Atrophy: More than a Disease of Motor Neurons? Curr Mol Med 2016;16:779-92.
13. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders. 2018;28:197-207.
14. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103-15.
15. Grychtol R, Abel F, Fitzgerald DA. The role of sleep diagnostics and non-invasive ventilation in children with spinal muscular atrophy. Paediatric Respiratory Reviews. 2018;28:18-25.
16. Takei S, Miyagi M, Saito W, Imura T, Inoue G, Nakazawa T, et al. Safety and Efficacy of Treatment for Scolios Is Secondary to Spinal Muscular Atrophy Fused to Lumbar 5 Level. Spine Surg Relat Res. 2018;2:294-8.
17. Mehta NM, Newman H, Tarrant S, Graham RJ. Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy. Pediatr Neurol. 2016;57:80-3.
18. Martinez Martin P. What is quality of life and how do we measure it? Relevance to Parkinson's disease and movement disorders. Movement Disorders. 2017;32:382-92.
19. Vanleerberghe P, De Witte N, Claes C, Schalock RL, Verté D. The quality of life of older people aging in place: a literature review. Quality of Life Research. 2017;26:2899-907.
20. Haraldstad K, Wahl A, Andenaes R, Andersen JR, Andersen MH, Beisland E, et al. A systematic review of quality of life research in medicine and health sciences. Qual Life Res. 2019;28:2641-50.
21. Rouault F, Christie-Brown V, Broekgaarden R, Gusset N, Henderson D, Marczuk P, et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients. Neuromuscular Disorders. 2017;27:428-38.
22. Weaver MS, Hanna R, Hetzel S, Patterson K, Yuroff A, Sund S, et al. A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions. J Child Neurol. 2020;35:322-30
23. Hu J, Jiang L, Hong SQ, Cheng L, Kong M, Ye YZ. Reliability and validity for Chinese version of pediatric quality of life inventoryTM(PedsQLTM) 3.0 neuromuscular module. Journal of Chongqing Medical University. 2012;37:806-10.
24. Chen RQ, Hao YT, Feng LF, Zhang YF, Huang The Chinese version of the Pediatric Quality of Life Inventory™ (PedsQL™) Family Impact Module: cross-cultural adaptation and psychometric evaluation. Health and Quality of Life Outcomes. 2011;9:16.
25. Cohen J. Statistical Power Analysis for the Behavioral Sciences. 2nd edn. Hillsdale, New Jersey: L. Erlbaum; 1988.
26. Min R, Linli P, Qin L, Michelle P, Fang H, Hong W. The association between quality of life(QoL) and health literacy among junior middle school students: a cross-sectional study. BMC Public Health. 2018;18:1183.
27. Vai S, Bianchi ML, Moroni I, Mastella C, Broggi F, Morandi L, et al. Bone and Spinal Muscular Atrophy. Bone. 2015;79:116-20.
28. Merlini L, Granata C, Bonfiglioli S, Marini ML, Cervellati S, Savini R. Scoliosis in spinal muscular atrophy: natural history and management. Dev Med Child Neurol. 1989;31:501-8.
29. Mehta NMM, Newman HB, Tarrant SR, Graham RJM. Nutritional Status and Nutrient Intake Challenges in Children With Spinal Muscular Atrophy. Pediatric Neurology. 2016;57:80-3.
30. Cremers CH, Fischer MJ, Kruitwagen-van Reenen ET, Wadman RI, Vervoordeldonk JJ, Verhoef M. Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy. Neuromuscul Disord. 2019;29:321-9.
31. Veilleux L, Rauch F. Muscle-Bone Interactions in Pediatric Bone Diseases. Current Osteoporosis Reports. 2017;15:425-32.
32. Coffey VG, Hawley JA. The molecular bases of training adaptation. Sports Med. 2007;37:737-63.
33. Motl RW, Sandroff BM. Benefits of Exercise Training in Multiple Sclerosis. Current Neurology and Neuroscience Reports. 2015;15:1-9.
34. Ng S, Manta A, Ljubicic V. Exercise Biology of Neuromuscular Disorders. Applied Physiology, Nutrition, and Metabolism. 2018;43:1194-1206.
35. Case LE, Apkon SD, Eagle M, Gulyas A, Juel L, Matthews D, et al. exercise Management of the Patient With Duchenne Muscular Dystrophy. Pediatrics (Evanston).2018;142(Suppl 2):S17-33.
36. Voet NB, van der Kooi EL, van Engelen BG, Geurts AC. Strength training and aerobic exercise training for muscle disease (Review. Cochrane Database of Systematic Reviews. 2019;12:CD003907.
37. Mehta P, Melikishvili A, Carvalho KS. Neurological Complications of Respiratory Disease. Seminars in Pediatric Neurology. 2017;24:14-24.
38. Boentert M, Wenninger S, Sansone VA. Respiratory involvement in neuromuscular disorders. Current Opinion in Neurology. 2017;30:529-37.
39. Von Kodolitsch Y, Rybczynski M, Vogler M, Mir T, Schüler H, Kutsche K, et al. The role of the multidisciplinary health care team in the management of patients with Marfan syndrome. 2016;9:587-614.
40. Brook J, McGraw C. Multidisciplinary perspectives: Application of the Consolidated Framework for Implementation Research to evaluate a health coaching initiative. Health & Social Care in the Community. 2018;26:e386-95.
41. Auvin S, Bissler JJ, Cottin V, Fujimoto A, Hofbauer G, Jansen AC, et al. A step-wise approach for establishing a multidisciplinary team for the management of tuberous sclerosis complex: a Delphi consensus report. Orphanet J Rare Dis. 2019;14:91.
42. Duis J, van Wattum PJ, Scheimann A, Salehi P, Brokamp E, Fairbrother L, et al. A multidisciplinary approach to the clinical management of Prader–Willi syndrome. Molecular Genetics & Genomic Medicine. 2019;7:e514.
43. Abu-El-Haija M, Nathan JD. Pediatric chronic pancreatitis: Updates in the 21st century. Pancreatology. 2018;18:354-9.
44. Chan DS, Callahan CW, Moreno C. Multidisciplinary education and management program for children with asthma. Am J Health Syst Pharm. 2001;58:1413-7.
45. Corey DR. Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy. Nature neuroscience. 2017;20:497-9.
46. Michelson D, Ciafaloni E, Ashwal S, Lewis E, Narayanaswami P, Oskoui M, et al. Evidence in focus: Nusinersen use in spinal muscular atrophy. Neurology. 2018;20:923-33.
47. Darras BT, Farrar MA, Mercuri E, Finkel RS, Foster R, Hughes SG, et al. An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials. CNS Drugs. 2019;33:919-32.
48. Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, et al. Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function. Neuromuscular Disorders. 2018;28:582-5.