Поиск
Озвучить текст Озвучить книгу
Изменить режим чтения
Изменить размер шрифта
Оглавление
Для озвучивания и цитирования книги перейдите в режим постраничного просмотра.

Список литературы

1. Brzustowicz L.M., Lehner Т., Castilla et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5qll.2 - ql3.3. //Nature. 1990.V. 344. P. 540-541.

2. Burglen L., Lefebvre S., Clermont O. et al. Structure and organization of the human survival motor neuron (SMN) gene.//Genomics. 1996a. V.32.P.479-482.

3. Lorson C.L., Hahnen E., Androphy E.J. et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy// Proc. Natl. Acad. Sci. USA. 1999. V. 96. P. 6307-6311.

4. Lefebvre S., Burglen L.,Reboullet S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. // Cell. 1995. V.80. P. 155-165.

5. Harada Y., Sutomo R., Sadewa A.H. et al. Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity// J Neurol. 2002. V. 249(9) P. 1211-1219.

6. Jedrzejowska M., Milewski M., Zimowski J. et al. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease //ActaBiochimicaPolonica. 2009. V. 56. P. 103-108.

7. Butchbach M.E.R. Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases. // Front Mol Biosci. 2016 V. 3P. 7.

8. Prior T.W., Swoboda K.J., Scott H.D. et al. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2 //Am J Med Genet. 2004. V. 130A. P. 307-310.

9. Tizzano E., Baiget M. Molecular bases of spinal muscular atrophy: the survival motoneuron gene // Contributions to Science. 2001.V. 2. P. 35-42.

10. Burghes A. H. M., Beattie C.E. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? // Nat Rev Neurosci. 2009 V. 10(8) P. 597-609.

11. Rossoll W., Bassell G.J. Spinal muscular atrophy and a model for survival of motor neuron protein function in axonal ribonucleoprotein complexes. // Results Probl Cell Differ. 2009 V. 48 P. 289-326.

12. Calucho M., Bernal S., Alias L. 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. 2018 V. 28(3) P. 208-215.

13. Bernal S., Alias L., Barceló M.J. et al. The c.859G>C variant in the SMN2 gene is associated with both type II and III SMA and originates from a common ancestor. // J Med Genet. 2010 V. 47(9) P. 640-2.

14. Hosseinibarkooie S., Peters M., Torres-Benito L. et al. The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype. //Am J Hum Genet. 2016 V. 99(3) P. 647-665.

15. Kaczmarek A. Analysis of reduced Neurocalcin delta (NCALD) as a protective modifier in mouse models of Spinal Muscular Atrophy (SMA). // PhD thesis, Universität zu Köln, Köln, 2016

16. Janzen E., Mendoza-Ferreira N., Hosseinibarkooie S., et al. (2018). CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis. // Brain. 2018 V. 141(8) P. 2343-2361.

17. Zheleznyakova GY, Voisin S, Kiselev AV, Sällman Almén M, Xavier MJ, Maretina MA, Tishchenko LI, Fredriksson R, Baranov VS, Schiöth HB. Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity. // Eur. J.Hum. Genet. 2013 V. 21 P. 988-993.

18. Zheleznyakova, G. Y., Nilsson, E. K., Kiselev, A. V., Maretina, M. A., Tishchenko, L. I., Fredriksson, R.,... & Schiöth, H. B. Methylation Levels of SLC23A2 and NCOR2 Genes Correlate with Spinal MuscularAtrophySeverity.//PloS one. 2015 V.10(3) e0121964.

19. Maretina M. A., Egorova A. A., Baranov V. S., Kiselev Α. V. DYNC1H1 gene methylation correlates with severity of spinal muscular atrophy//Ann. Hum. Genet. 2019 V. 83(2) P. 73-81.

20. Mercuri E., Finkel R.S., Muntoni F., et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. //Neuromuscul Disord. 2018 V. 28(2) P. 103-115.

21. Ogino S., Leonard D.G., Rennert H. et al. Genetic risk assessment in carrier testing for spinal muscular atrophy. //Am J Med Genet. 2002,V. 110 P. 301-07.

22. Prior T.W., Snyder P.J., Rink B.D. et al.: Newborn and carrier screening for spinal muscular atrophy. //Am J Med Genet A. 2010, V. 1S2A P. 160S-1607.

23. Zabnenkova V.V., Dadali E.L., Spiridonova M.G., et al. Spinal muscular atrophy carrier frequency in Russian Federation//ASHG 2016. P. 2476W.

24. Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype // Eur J Paediatr Neurol. 1999. V. 3(2). P. 49-51.

25. Pearn J.H., Wilson J. Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy. //ArchDis Child. 1973 V. 48(6) P. 425-430.

26. Darras B.T., Markowitz J.A., Monani U.R, De Vivo D.C. Neuromuscular Disorders of Infancy, Childhood, and Adolescence (Second Edition)//Academic Press, 2015, P. 117-145

27. Prior T.W., Leach M.E., Finanger E. Spinal muscular atrophy // In: Adam M.P., Ardinger H.H., Pagon R.A., et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.

28. Russman B.S. Spinal muscular atrophy: clinical classification and disease heterogeneity // J Child Neurol. 2007,V. 22(8). P. 946-951.

29. Mellies U1. Dohna-Schwake С. Stehling F. Voit T. Sleep disordered breathing in spinal muscular atrophy. //Neuromuscul Disord. 2004 V.14(12)P.797-803.

30. Федеральные клинические рекомендации (протоколы) по диагностике и лечению cпинaльныx мышечных атрофии у детей.// Авторы: Bлoдaвeц Д.В, Харламов Д.A., Артемьева С.Б., Бeлoycoвa E.Д., 2013; 32 стр. http://ulgb3.ru/doc/211218_10-58.pdf

Для продолжения работы требуется Registration
На предыдущую страницу

Предыдущая страница

Следующая страница

На следующую страницу
Список литературы
На предыдущую главу Предыдущая глава
оглавление
Следующая глава На следующую главу