1. Lefebvre S. et al. Identification and characterization of a spinal muscular atrophy-determining gene//Cell. Elsevier, 1995. Vol. 80, N 1. P. 155 - 165.
2. Anderton R.S. et al. Spinal Muscular Atrophy and the Antiapoptotic Role of Survival of Motor Neuron (SMN) Protein//Mol. Neurobiol. 2013. Vol. 47, N 2. P. 821 - 832.
3. Prior T.W. et al. A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene//Am. J. Hum. Genet. Elsevier, 2009. Vol. 85, N 3. P. 408 - 413.
4. Wirth B. et al. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number//Hum. Genet. 2006. Vol. 119, N 4. P. 422 - 428.
5. Vitali T. et al. Detection of the Survival Motor Neuron (SMN) Genes by FISH: Further Evidence for a Role for SMN2 in the Modulation of Disease Severity in SMA Patients//Hum. Mol. Genet. 1999. Vol. 8, N 13. P. 2525 - 2532.
6. Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2020 Dec 3]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. [Internet]. Seattle (WA): University of Washington, Seattle; 1993 - 2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1352/.
7. Kashima T., Manley J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy//Nat. Genet. 2003. Vol. 34, N 4. P. 460 - 463.
8. Arnold E.S., Fischbeck K.H. Spinal muscular atrophy//Handb. Clin. Neurol. Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States., 2018. Vol. 148. P. 591 - 601.
9. Lipnick S.L. et al. Systemic nature of spinal muscular atrophy revealed by studying insurance claims//PLoS One. Public Library of Science, 2019. Vol. 14, N 3. P. e0213680 - e0213680.
10. Mailman M.D. et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2//Genet. Med. 2002. Vol. 4, N 1. P. 20 - 26.
11. Calucho M. et al. 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. Elsevier, 2018. Vol. 28, N 3. P. 208 - 215.
12. Nance J.R. Spinal Muscular Atrophy//Contin. (Minneap Minn). 2020. Vol. 26, N 5. P. 1348 - 1368.
13. Lusakowska A. et al. Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophy//Orphanet J. Rare Dis. 2021. Vol. 16, N 1. P. 150.
14. Sugarman E.A. et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens//Eur. J. Hum. Genet. 2012. Vol. 20, N 1. P. 27 - 32.
15. K. et al. De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany//Orphanet J. Rare Dis. 2019. Vol. 14, N 1. P. 152.
16. Verhaart I.E.C. et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review//Orphanet J. Rare Dis. 2017. Vol. 12, N 1. P. 124.
17. Zabnenkova V. et al. Spinal muscular atrophy carrier frequency in Russian Federation. 2016.
18. Wijngaarde C.A. et al. Natural history of lung function in spinal muscular atrophy//Orphanet J. Rare Dis. 2020. Vol. 15, N 1. P. 88.
19. Mercuri E. et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care//Neuromuscul. Disord. Elsevier, 2018. Vol. 28, N 2. P. 103 - 115.
20. L. et al. Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association//J. Clin. Invest. 1996. Vol. 98, N 5. P. 1130 - 1132.
21. Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype//Eur. J. Paediatr. Neurol. 1999. Vol. 3, N 2. P. 49 - 51.
22. Grotto S. et al. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients//J. Neuromuscul. Dis. IOS Press, 2016. Vol. 3. P. 487 - 495.
23. Keinath M.C., Prior D.E., Prior T.W. Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance//Appl. Clin. Genet. Dove, 2021. Vol. 14. P. 11 - 25.
24. Mongiovi P. et al. Patient reported impact of symptoms in spinal muscular atrophy (PRISM-SMA)//Neurology. - 2018. - Т. 91. - N 13. - С. e1206 - e1214.
25. Sporer S.M., Smith B.G. Hip Dislocation in Patients With Spinal Muscular Atrophy//J. Pediatr. Orthop. 2003. Vol. 23, N 1. P. 10 - 14.
26. Trucco F. et al. Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study//Neurology. 2020/10/16. Lippincott Williams & Wilkins, 2021. Vol. 96, N 4. P. e587 - e599.
27. Kolb S.J., Kissel J.T. Spinal Muscular Atrophy//Neurol. Clin. 2015. Vol. 33, N 4. P. 831 - 846.
28. Souza P.V.S. et al. Clinical and radiological profile of patients with spinal muscular atrophy type 4//Eur. J. Neurol. John Wiley & Sons, Ltd, 2021. Vol. 28, N 2. P. 609 - 619.
29. Finkel R.S. et al. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics//Neuromuscul. Disord. 2018. Vol. 28, N 3. P. 197 - 207.
30. Mellies U. et al. Sleep disordered breathing in spinal muscular atrophy//Neuromuscul. Disord. 2004. Vol. 14. P. 797 - 803.
31. Mercuri E. et al. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials//Neuromuscul. Disord. 2015/12/03. Pergamon Press, 2016. Vol. 26, N 2. P. 126 - 131.
32. Trundell D. et al. Assessment of the validity and reliability of the 32-item Motor Function Measure in individuals with Type 2 or non-ambulant Type 3 spinal muscular atrophy//PLoS One. Public Library of Science, 2020. Vol. 15, N 9. P. e0238786.
33. Duong T. et al. Understanding the relationship between the 32-item motor function measure and daily activities from an individual with spinal muscular atrophy and their caregivers' perspective: a two-part study//BMC Neurol. 2021. Vol. 21, N 1. P. 143.
34. O'Hagen J.M. et al. An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients//Neuromuscul. Disord. Elsevier, 2007. Vol. 17, N 9. P. 693 - 697.
35. Mazzone E.S. et al. Revised upper limb module for spinal muscular atrophy: Development of a new module//Muscle Nerve. John Wiley & Sons, Ltd, 2017. Vol. 55, N 6. P. 869 - 874.
36. Pierzchlewicz K. et al. Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment//Child Neurol. Open. SAGE Publications Inc, 2021. Vol. 8. P. 2329048X211008725.
37. Kaufmann P. et al. Prospective cohort study of spinal muscular atrophy types 2 and 3//Neurology. 2012/10/17. Lippincott Williams & Wilkins, 2012. Vol. 79, N 18. P. 1889 - 1897.
38. Coratti G. et al. Clinical Variability in Spinal Muscular Atrophy Type III//Ann. Neurol. John Wiley & Sons, Ltd, 2020. Vol. 88, N 6. P. 1109 - 1117.
39. Annoussamy M. et al. Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study//Ann. Clin. Transl. Neurol. John Wiley & Sons, Ltd, 2021. Vol. 8, N 2. P. 359 - 373.
40. Montes J. et al. Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy//Neurology. American Academy of Neurology, 2010. Vol. 74, N 10. P. 833 - 838.
41. Sproule D.M. et al. Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy//Neuromuscul. Disord. 2009/05/07. 2009. Vol. 19, N 6. P. 391 - 396.
42. Chen Y.-S. et al. Prevalence and Risk Factors for Feeding and Swallowing Difficulties in Spinal Muscular Atrophy Types II and III//J. Pediatr. Elsevier, 2012. Vol. 160, N 3. P. 447 - 451.e1.
43. Fujak A. et al. Natural course of scoliosis in proximal spinal muscular atrophy type II and IIIa: descriptive clinical study with retrospective data collection of 126 patients//BMC Musculoskelet. Disord. BioMed Central, 2013. Vol. 14. P. 283.
44. Kouwenhoven J.-W.M. et al. Spinal Decompensation in Neuromuscular Disease//Spine (Phila. Pa. 1976). 2006. Vol. 31, N 7. P. E188 - E191.
45. Li L. et al. Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy//Clin. Chem. Lab. Med. 2017. Vol. 55, N 3. P. 358 - 367.
46. Jin Y. et al. Limitation of PCR-RFLP method for the detection of genetic mutations in spinal muscular atrophy//Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012. Vol. 29. P. 34 - 37.
47. Yang L. et al. Sanger sequencing for the diagnosis of spinal muscular atrophy patients with survival motor neuron gene 1 compound heterozygous mutation Yang Lan//Zhonghua Yi Xue Za Zhi. 2017. Vol. 97. P. 418 - 423.
48. Zhang Y. et al. The analysis of the association between the copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein genes and the clinical phenotypes in 40 patients with spinal muscular atrophy: Observational study//Medicine (Baltimore). Wolters Kluwer Health, 2020. Vol. 99, N 3. P. e18809 - e18809.
49. MacDonald W.K., Hamilton D., Kuhle S. SMA carrier testing: a meta-analysis of differences in test performance by ethnic group//Prenat. Diagn. John Wiley & Sons, Ltd, 2014. Vol. 34, N 12. P. 1219 - 1226.
50. Rudnik-Sch neborn S. et al. Analysis of Creatine Kinase Activity in 504 Patients with Proximal Spinal Muscular Atrophy Types I - III from the Point of View of Progression and Severity//Eur. Neurol. 1998. Vol. 39, N 3. P. 154 - 162.
51. Wan, B. et al. A severe mouse model of spinal muscular atrophy develops early systemic inflammation//Human molecular genetics. 2018. Vol. 27, N 23, P. 4061 - 4076.
52. Инструкция по медицинскому применению лекарственного препарата Спинраза [Electronic resource]. URL: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=1122c0fa-2d51-462b-b3b9-f3482f3aa446&t=.
53. Инструкция по медицинскому применению лекарственного препарата Эврисди [Electronic resource]. URL: https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=997acb67-4bc6-48f0-b173-886c29314b5a&t=.
54. Nery FC et al. Impaired kidney structure and function in spinal muscular atrophy//Neurol Genet. 2019. Vol. 5, N 5. P. e353.
55. Saffari, A. et al. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy//Orphanet J Rare Dis. 2021. N 441. P. 1 - 16.
56. Alves CRR et al. Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy//Neurology. 2020. Vol. 94, N 9. P. e921 - e931.
57. Deguise MO, Chehade L, Kothary R. Metabolic Dysfunction in Spinal Muscular Atrophy//Int J Mol Sci. 2021. Vol. 22, N 11. P. 5913.
58. Wijngaarde et al. Abnormal coagulation parameters are a common non-neuromuscular feature in patients with spinal muscular atrophy//Journal of Neurology, Neurosurgery & Psychiatry. 2020. Vol. 91. P. 212 - 214.
59. Bersanini C. et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders//Eur. Respir. J. 2012. Vol. 39, N 5. P. 1206 - 1212.
60. M.C. et al. Patients with severe muscle wasting are prone to develop hypoglycemia during fasting//Neurology. 2003. Vol. 61, N 7. P. 997 - 1000.
61. Brogna C. et al. MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients//J. Neurol. Pediatric Neurology, Universit Cattolica del Sacro Cuore, Largo Gemelli 8, 00168, Rome, Italy., 2020. Vol. 267, N 4. P. 898 - 912.
62. Oudeman J. et al. Diagnostic accuracy of MRI and ultrasound in chronic immune-mediated neuropathies//Neurology. 2020. Vol. 94, N 1. P. e62 - e74.
63. Wijngaarde C.A. et al. Cardiac pathology in spinal muscular atrophy: a systematic review//Orphanet J. Rare Dis. 2017. Vol. 12, N 1. P. 67.
64. Palladino A. et al. Cardiac involvement in patients with spinal muscular atrophies//Acta Myol. myopathies cardiomyopathies Off. J. Mediterr. Soc. Myol. Pacini Editore SpA, 2011. Vol. 30, N 3. P. 175 - 178.
65. Ryabykh SO, Savin DM, Filatov EYu, Medvedeva SN, Tretjakova AN, Popkov DA, Ryabykh TV, Shchurova EN, Saifutdinov MS. Spinal muscular atrophy: clinical features and treatment of spinal and limb deformities. Interstate Consensus Protocol. Hir. Pozvonoc. 2020; 17(2): 79 - 94. In Russian. DOI: http://dx.doi.org/10.14531/ss2020.2.79-94.
66. Veiga-Canuto D et al. Ultrasound-guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients//Eur J Neurol. 2021. Vol. 28, N 2. P. 676 - 680.
67. Manzur A.Y., Muntoni F., Simonds A. Muscular Dystrophy Campaign sponsored workshop: Recommendation for Respiratory Care of Children with Spinal Muscular Atrophy Type II and III. 13th February 2002, London, UK//Neuromuscul. Disord. Elsevier, 2003. Vol. 13, N 2. P. 184 - 189.
68. Simonds A.K. Home Mechanical Ventilation: An Overview//Ann. Am. Thorac. Soc. American Thoracic Society - AJRCCM, 2016. Vol. 13, N 11. P. 2035 - 2044.
69. Singh R.N., Ottesen E.W., Singh N.N. The First Orally Deliverable Small Molecule for the Treatment of Spinal Muscular Atrophy//Neurosci. insights. SAGE Publications, 2020. Vol. 15. P. 2633105520973985-2633105520973985.
70. Kirschner J. et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy//Eur. J. Paediatr. Neurol. 2020/07/09. European Paediatric Neurology Society. Published by Elsevier Ltd., 2020. Vol. 28. P. 38 - 43.
71. Инструкция по медицинскому применению препарата (раствор для инфузий). Регистрационное удостоверение номер ЛП-007675 от 09.12.2021 г. Государственный реестр лекарственных средств, https://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=57a4c3e1-4577-4435-b3b0-5dfbfc3ff2ec&t=
72. Dangouloff T., Servais L. Clinical Evidence Supporting Early Treatment Of Patients
73. With Spinal Muscular Atrophy: Current Perspectives//Ther. Clin. Risk Manag. Dove, 2019. Vol. 15. P. 1153 - 1161.
74. Mercuri E. et al. Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy//N. Engl. J. Med. Massachusetts Medical Society, 2018. Vol. 378, N 7. P. 625 - 635.
75. Walter M.C. et al. Safety and Treatment Effects of Nusinersen in Longstanding Adult 5q-SMA Type 3 - A Prospective Observational Study//J. Neuromuscul. Dis. IOS Press, 2019. Vol. 6. P. 453 - 465.
76. Osmanovic A. et al. Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy//J. Neurol. 2020. Vol. 267, N 8. P. 2398 - 2407.
77. Hagenacker T. et al. Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study//Lancet Neurol. Elsevier, 2020. Vol. 19, N 4. P. 317 - 325.
78. Sansone V.A. et al. Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen//Eur. J. Neurol. John Wiley & Sons, Ltd, 2021. Vol. 28, N 2. P. 602 - 608.
79. Meyer T. et al. Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen//Eur. J. Neurol. John Wiley & Sons, Ltd, 2021. Vol. 28, N 8. P. 2582 - 2595.
80. Duong T. et al. Nusinersen Treatment in Adults With Spinal Muscular Atrophy//Neurol. Clin. Pract. Lippincott Williams & Wilkins, 2021. Vol. 11, N 3. P. e317 - e327.
81. Moshe-Lilie O. et al. Nusinersen in adult patients with spinal muscular atrophy//Neurology. 2020. Vol. 95, N 4. P. e413 - e416.
82. Konersman C.G. et al. Nusinersen treatment of older children and adults with spinal muscular atrophy//Neuromuscul. Disord. Elsevier, 2021. Vol. 31, N 3. P. 183 - 193.
83. Maggi L. et al. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3//J. Neurol. Neurosurg. & Psychiatry. 2020. Vol. 91, N 11. P. 1166 - 1174.
84. Coratti G. et al. Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis//Orphanet Journal of Rare Diseases 2021, Vol. 16, N 430.
85. Mousa M.A. et al. A comprehensive institutional overview of intrathecal nusinersen injections for spinal muscular atrophy. Pediatr Radiol. 2018; 48(12): 1797 - 1805].
86. C. et al. Nusinersen injections in adults and children with spinal muscular atrophy: a single-center experience//Diagn Interv Radiol., 2020 Vol. 26, N 6. P. 596 - 602.
87. Darras B.T. et al. Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies//Neurology. 2019/04/24. Lippincott Williams & Wilkins, 2019. Vol. 92, N 21. P. e2492 - e2506.
88. Mercuri E. et al. SUNFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Patients with Type 2 or Non-Ambulant Type 3 Spinal Muscular Atrophy (SMA) (1260)//Neurology. 2020. Vol. 94, N 15 Supplement. P. 1260.
89. Assessment report: Evrysdi [Electronic resource]. 2021. URL: https://www.ema.europa.eu/en/documents/assessment-report/evrysdi-epar-public-assessment-report_en.pdf.
90. Shoval H.A. et al. Onabotulinum Toxin A Injections Into the Salivary Glands for Spinal Muscle Atrophy Type I: A Prospective Case Series of 4 Patients//Am. J. Phys. Med. Rehabil. 2018. Vol. 97, N 12.
91. McGeachan A.J., Mcdermott C.J. Management of oral secretions in neurological disease//Pract. Neurol. 2017. Vol. 17, N 2. P. 96 - 103.
92. Fujak A. et al. Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients//Arch. Orthop. Trauma Surg. 2012. Vol. 132, N 12. P. 1697 - 1706.
93. Messina S. et al. Feeding problems and malnutrition in spinal muscular atrophy type II//Neuromuscul. Disord. Elsevier, 2008. Vol. 18, N 5. P. 389 - 393.
94. C et al. ESPEN guidelines on artificial enteral nutrition-percutaneous endoscopic gastrostomy (PEG)//Clin Nutr. 2005. Vol. 24, N 5. P. 848 - 861.
95. Schofield C. An annotated bibliography of source material for basal metabolic rate data.//Hum. Nutr. Clin. Nutr. 1985. Vol. 39 Suppl 1. P. 42 - 91.
96. C. et al. Palliative Care: The World Health Organization's Global Perspective//J. Pain Symptom Manage. Elsevier, 2002. Vol. 24, N 2. P. 91 - 96.
97. Pastrana T. et al. A matter of definition - key elements identified in a discourse analysis of definitions of palliative care//Palliat. Med. SAGE Publications Ltd STM. 2008. Vol. 22, N 3. P. 222 - 232.
98. Dunaway S. et al. Physical therapy services received by individuals with spinal muscular atrophy (SMA)//J. Pediatr. Rehabil. Med. IOS Press, 2016. Vol. 9. P. 35 - 44.
99. Cunha M.C.B. et al. Spinal muscular atrophy type II (intermediary) and III (Kugelberg-Welander): evolution of 50 patients with physiotherapy and hydrotherapy in a swimming pool//Arq. Neuropsiquiatr. Academia Brasileira de Neurologia - ABNEURO, 1996. Vol. 54, N 3. P. 402 - 406.
100. Cichocki P. et al. Strategia fizjoterapii u chorych z dysfagia z powodu rdzeniowego zaniku typu Ib. Studium przypadku [Strategy of physiotherapy in dysphagia associated with spinal muscular atrophy type Ib: Case study]//Ann Acad Med Stetin. 2011. Vol. 57, N 1. P. 26 - 30. In Polish.
101. van Bruggen H.W. et al. Mandibular dysfunction as a reflection of bulbar involvement in SMA type 2 and 3//Neurology. 2016. Vol. 86, N 6. P. 552 - 559.
102. Wadman R.I. et al. Bulbar muscle MRI changes in patients with SMA with reduced mouth opening and dysphagia//Neurology. 2014. Vol. 83, N 12. P. 1060 - 1066.
103. Fujak A. et al. Use of orthoses and orthopaedic technical devices in proximal spinal muscular atrophy. Results of survey in 194 SMA patients//Disabil. Rehabil. Assist. Technol. Taylor & Francis, 2011. Vol. 6, N 4. P. 305 - 311.
104. Singh H, Nene Y, Mehta TR, Govindarajan R. Efficacy of Botulinum Toxin for Treating Sialorrhea in Neuromuscular Conditions. Front Neurol. 2020; 11: 513. Published 2020 Jun 10. doi:10.3389/fneur.2020.00513.
105. Sabine , Klaus Zerres, in Emery and Rimoin"s Principles and Practice of Medical Genetics (Sixth Edition), 2013.
106. A. McDonough, L. Urquia, N. Boulis, Chapter 5 - An Introduction to the Natural History, Genetic Mapping, and Clinical Spectrum of Spinal Muscular Atrophy, Editor(s): Nicholas Boulis, Deirdre O'Connor, Anthony Donsante, Molecular and Cellular Therapies for Motor Neuron Diseases, Academic Press, 2017, Pages 101 - 120, ISBN 9780128022573, https://doi.org/10.1016/B978-0-12-802257-3.00005-5
107. Селиверстов Ю.А., Клюшников С.А., Иллариошкин С.Н. Спинальные мышечные атрофии: понятие, дифференциальная диагностика, перспективы лечения. Нервные болезни. 2015; 3: 9 - 17
108. M. Oskoui, B.T. Darras, D.C. De Vivo, Chapter 1 - Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure, Editor(s): Charlotte J. Sumner, Sergey Paushkin, Chien-Ping Ko, Spinal Muscular Atrophy, Academic Press, 2017, Pages 3 - 19, ISBN 780128036853, https://doi.org/10.1016/B978-0-12-803685-3.00001-X
109. JAMES B. ATKINSON, MAHLON D. JOHNSON, THOMAS W. BOULDIN, WILLIAM O. WHETSELL, CHAPTER 53 - Muscle and Nerve Biopsy, Editor(s): Noel Weidner, Richard J. Cote, Saul Suster, Lawrence M. Weiss, Modern Surgical Pathology (Second Edition), W.B. Saunders, 2009, Pages 2069 - 2088, ISBN 9781416039662, https://doi.org/10.1016/B978-1-4160-3966-2.00053-9
110. Забненкова В.В., Дадали Е.Л., Поляков А.В. Проксимальная спинальная мышечная атрофия типов I - IV: особенности молекулярно-генетической диагностики. Нервно-мышечные болезни. 2013; (3): 2731. https://doi.org/10.17650/2222-8721-2013-0-3-27-31
111. Точковые мутации в гене SMN1 у больных проксимальной спинальной мышечной атрофией I - IV типа, имеющих одну копию гена SMN1/В.В. Забненкова, Е.Л. Дадали, С.Б. Артемьева [и др.]//Генетика. - 2015. - Т. 51, N 9. - С. 1075. - DOI 10.7868/S0016675815080123. - EDN UGERPR.
112. Martinez EE, Quinn N, Arouchon K, et al. Comprehensive nutritional and metabolic assessment in patients with spinal muscular atrophy: Opportunity for an individualized approach. Neuromuscul Disord. 2018; 28(6): 512 - 519. doi:10.1016/j.nmd.2018.03.009
113. Palladino A, Passamano L, Taglia A, et al. Cardiac involvement in patients with spinal muscular atrophies. Acta Myol. 2011; 30(3): 175 - 178.
114. Gavriilaki M, Moschou M, Papaliagkas V, et al. Nusinersen in Adults with 5q Spinal Muscular Atrophy: a Systematic Review and Meta-analysis. Neurotherapeutics. 2022; 19(2): 464 - 475. doi:10.1007/s13311-022-01200-3
115. Zhang J, Cui X, Chen S, Dai Y, Huang Y, Zhang S. Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study. Orphanet J Rare Dis. 2021; 16(1): 274. Published 2021 Jun 13. doi:10.1186/s13023-021-01903-4
116. Spiliopoulos S, Reppas L, Zompola C, et al. Computed-tomography-guided transforaminal intrathecal nusinersen injection in adults with spinal muscular atrophy type 2 and severe spinal deformity. Feasibility, safety and radiation exposure considerations. Eur J Neurol. 2020; 27(7): 1343 - 1349. doi:10.1111/ene.14245
117. Li Y-J, Chen T-H, Wu Y-Z, Tseng Y-H. Metabolic and Nutritional Issues Associated with Spinal Muscular Atrophy. Nutrients. 2020; 12(12): 3842. https://doi.org/10.3390/nu12123842
118. Yasuma F, Kuru S, Konagaya M. Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure. Intern Med. 2004; 43(10): 951 - 954. doi:10.2169/internalmedicine.43.951
119. Pitarch Castellano I, Cabrera-Serrano M, Calvo Medina R, et al. Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus). Neurologia (Engl Ed). 2022; 37(3): 216 - 228. doi:10.1016/j.nrleng.2021.07.002
120. Wan HWY, Carey KA, D"Silva A, et al. Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review. Orphanet J Rare Dis. 2020; 15(1): 70. Published 2020 Mar 12. doi:10.1186/s13023-020-1339-3
121. R. et al. Patient-reported prevalence of non-motor symptoms is low in adult patients suffering from 5q spinal muscular atrophy//Frontiers in neurology. - 2019. - Т. 10. - С. 1098
122. Dos Santos M. A. R. et al. Accuracy of muscle fasciculations for the diagnosis of later-onset spinal muscle atrophy//Neuromuscular Disorders. - 2022. - Т. 32. - N 9. - С. 763 - 768
123. Puruckherr M. et al. Severe obstructive sleep apnea in a patient with spinal muscle atrophy//Chest. - 2004. - Т. 126. - N 5. - С. 1705 - 1707
124. Gurbani N. et al. Sleep disordered breathing: Assessment and therapy in the age of emerging neuromuscular therapies//Pediatric Pulmonology. - 2021. - Т. 56. - N 4. - С. 700 - 709
125. Veiga Canuto D. et al. Ultrasound guided lumbar puncture for nusinersen administration in spinal muscular atrophy patients//European Journal of Neurology. - 2021. - Т. 28. - N 2. - С. 676 - 680
126. Ambawatte S. B. et al. 191 Real world treatment with risdiplam in adults with type-2 spinal muscular atrophy at St George's Hospital, London//Journal of Neurology, Neurosurgery and Psychiatry. - 2022. - Т. 93. - N 9. - С. e2.
127. Wang Z. et al. Surgical treatment of spinal deformities in spinal muscular atrophy: a single-center experience from China//European Spine Journal. - 2022. - Т. 31. - N 11. - С. 3089 - 3097
128. Fujak A. et al. Operative treatment of scoliosis in proximal spinal muscular atrophy: results of 41 patients//Archives of orthopaedic and trauma surgery. - 2012. - Т. 132. - С. 1697 - 1706
129. Schroth M. K. Special considerations in the respiratory management of spinal muscular atrophy//Pediatrics. - 2009. - Т. 123. - N. Supplement_4. - С. S245 - S249
130. Cichocki P., Zyzniewska-Banaszak E., Mosiejczuk H. Strategy of physiotherapy in dysphagia associated with spinal muscular atrophy type Ib: case study//Annales Academiae Medicae Stetinensis. - 2011. - Т. 57. - N. 1. - С. 26 - 30
131. Рябых С.О. и др. Спинальная мышечная атрофия: особенности клиники и лечения деформаций позвоночника и конечностей Протокол межгосударственного консенсуса//Хирургия позвоночника. - 2020. - Т. 17. - N. 2. - С. 79 - 94
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