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1دورية أكاديمية
المؤلفون: Claudia Dosi, Riccardo Masson
المصدر: Frontiers in Neurology, Vol 15 (2024)
مصطلحات موضوعية: nusinersen, onasemnogene abeparvovec, prognosis, SMN2 gene copy, spinal muscular atrophy, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2024.1308296/fullTest; https://doaj.org/toc/1664-2295Test
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2دورية أكاديمية
المؤلفون: E. V. Kudryavtseva, O. V. Lagutina, V. V. Kovalev, S. S. Deryabina, I. A. Zakharova, A. Yu. Cherepennikova, Е. В. Кудрявцева, О. В. Лагутина, В. В. Ковалев, С. С. Дерябина, И. А. Захарова, А. Ю. Черепенникова
المصدر: Obstetrics, Gynecology and Reproduction; Vol 17, No 6 (2023); 707-717 ; Акушерство, Гинекология и Репродукция; Vol 17, No 6 (2023); 707-717 ; 2500-3194 ; 2313-7347
مصطلحات موضوعية: наследственные заболевания, ART, spinal muscular atrophy, SMA, in vitro fertilization, IVF, SMN1 gene, SMN2 gene, preconception preparation, neonatal screening, hereditary diseases, ВРТ, спинальная мышечная атрофия, СМА, экстракорпоральное оплодотворение, ЭКО, ген SMN1, ген SMN2, преконцепционная подготовка, неонатальный скрининг
وصف الملف: application/pdf
العلاقة: https://www.gynecology.su/jour/article/view/1869/1164Test; Inhorn M.C., Patrizio P. Infertility around the globe: new thinking on gender, reproductive technologies and global movements in the 21st century. Hum Reprod Update. 2015;21(4):411–26. https://doi.org/10.1093/humupd/dmv016Test.; Клинические рекомендации – Женское бесплодие – 2021-2022-2023 (24.06.2021). М.: Министерство здравоохранения Российской Федерации, 2021. 50 с. Режим доступа: https://moniiag.ru/wp-content/uploads/2019/07/Klinicheskie-rekomendatsii.-ZHenskoe-besplodie.pdfTest. [Дата обращения: 11.06.2023].; Регистр ВРТ. Отчет за 2020 год. Российская ассоциация репродукции человека, 2020. 56 c. Режим доступа: https://rahr.ru/d_registr_otchet/RegistrVRT_2020.pdfTest. [Дата обращения: 11.06.2023].; 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):27–31. https://doi.org/10.17650/2222-8721-2013-0-3-27-31Test.; Lunn M.R., Wang C.H. Spinal muscular atrophy. Lancet. 2008;371(9630):2120–33. https://doi.org/10.1016/S01406736Test(08)60921-6.; Prior T.W., Leach M.E., Finanger E. Spinal muscular atrophy. GeneReviews®. National Library of Medicine, 2020. Режим доступа: http://www.ncbi.nlm.nih.gov/books/NBK1352Test/. [Дата обращения: 11.06.2023].; Маретина М.А., Киселев А.В., Ильина А.В. и др. Современные тенденции в диагностике, скрининге и лечении спинальной мышечной атрофии. Вестник Российской академии медицинских наук. 2022;77(2):87–96. https://doi.org/10.15690/vramn1768Test.; Scriven P.N. Combining PGT-A with PGT-M risks trying to do too much. J Assist Reprod Genet. 2022;39(9):2015–8. https://doi.org/10.1007/s10815-022-02519-8Test.; Vill K., Blaschek A., Schara U. et al. Spinal muscular atrophy: Time for newborn screening? Nervenarzt. 2017;88(120:1358–66. (In German). https://doi.org/10.1007/s00115-017-0447-3Test.; Гузева В.И., Иванов Д.О., Петренко Ю.В. и др. Проксимальная спинальная мышечная атрофия 5q. Методическое пособие для врачей. СПб.: СПбГПМУ, 2021. 20 с.; Zabnenkova V.V., Dadali E.L., Spiridonova M.G. et al. Spinal muscular atrophy carrier frequency in Russian Federation. In: Proceedings of American Society of Human Genetics (ASHG). Annual Meeting, 2016. 2476W. https://doi.org/10.13140/RG.2.2.16245.60642Test.; Sugarman E.A., Nagan N., Zhu H. 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;20(1):27–32. https://doi.org/10.1038/ejhg.2011.134Test.; Ceylan A.C., Erdem H.B., Şahin İ., Agarwal M. SMN1 gene copy number analysis for spinal muscular atrophy (SMA) in a Turkish cohort by CODESEQ technology, an integrated solution for detection of SMN1 and SMN2 copy numbers and the “2+0” genotype. Neurol Sci. 2020;41:2575–84. https://doi.org/10.1007/s10072-020-04365-xTest.; Carré A., Empey C. Review of spinal muscular atrophy (SMA) for prenatal and pediatric genetic counselors. J Genet Couns. 2016;25(1):32–43. https://doi.org/10.1007/s10897-015-9859-zTest.; Плаксина А.Н., Ковтун О.П., Николаева Е.Б. Вспомогательные репродуктивные технологии: анализ достигнутых результатов и поиск новых решений (обзор литературы). Уральский медицинский журнал. 2017;(5):20–6.; Gates A., Terry S.F., Bonhomme N. Expanded carrier screening and its implications on genetic testing protocols. Genet Test Mol Biomarkers. 2016;20(11):643–4. https://doi.org/10.1089/gtmb.2016.29023.sjtTest.; Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Obstet Gynecol. 2017;129(3):e35–40. https://doi.org/10.1097/AOG.0000000000001951Test.; Волобуев А.Н., Давыдкин И.Л., Колсанов А.В., Кудлай Д.А. Математические аспекты генетики. M.: ГЭОТАР-Медиа, 2020. 176 c. https://doi.org/10.33029/9704-5890-7-MAG-2020-1-176Test.; Hendrickson B.C., Donohoe C., Akmaev V.R. et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet. 2009;46(9):641–4. https://doi.org/10.1136/jmg.2009.066969Test.; Gillingwater T.H. Counting the cost of spinal muscular atrophy. J Med Econ. 2016;19(8):827–8. https://doi.org/10.1080/13696998.2016.1202833Test.; Невмержицкая К.С., Сапего Е.Ю., Морозова Д.А. Краткосрочная безопасность и эффективность онасемноген абепарвовека у 10 пациентов со спинальной мышечной атрофией: когортное исследование. Вопросы современной педиатрии. 2021;20(6s):589–94. https://doi.org/10.15690/vsp.v20i6S.2367Test.; Droege M., Sproule D., Arjunji R. et al. Economic burden of spinal muscular atrophy in the United States: a contemporary assessment. J Med Econ. 2020;23(1):70–9. https://doi.org/10.1080/13696998.2019.1646263Test.; Armstrong E.P., Malone D.C., Yeh W.-S. et al. The economic burden of spinal muscular atrophy. J Med Econ. 2016;19(8):822–6. https://doi.org/10.1080/13696998.2016.1198355Test.; Колбин А.С., Влодавец Д.В., Курылев А.А. и др. Анализ социально-экономического бремени спинальной мышечной атрофии в Российской Федерации. ФАРМАКОЭКОНОМИКА. Современная фармакоэкономика и фармакоэпидемиология. 2020;13(4):337–54. https://doi.org/10.17749/2070-4909/farmakoekonomika.2020.068Test.; Национальный проект «Демография». Режим доступа: https://mintrud.gov.ru/ministry/programms/demographyTest. [Дата обращения: 11.06.2023].; Butchbach M.E.R. 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;22(15):7896. https://doi.org/10.3390/ijms22157896Test.; Клинические рекомендации. Проксимальная спинальная мышечная атрофия 5q. М.: Министерство здравоохранения Российской Федерации, 2023. 117 c. Режим доступа: https://amg-genetics.ru/pdf/2023/kr_sma_2023.pdfTest. [Дата обращения: 11.06.2023].; Rouzier C., Chaussenot A., Paquis-Flucklinger V. Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA). Arch Pediatr. 2020;27(7S):9–14. https://doi.org/10.1016/S0929-693XTest(20)30270-0.; Blauw H.M., Barnes C.P., van Vught P.W.J. et al. SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012;78(11):776–80. https://doi.org/10.1212/WNL.0b013e318249f697Test.; Kuźma-Kozakiewicz M., Jędrzejowska M., Kaźmierczak B. SMN1 gene duplications are more frequent in patients with progressive muscular atrophy. Amyotroph Lateral Scler Frontotemporal Degener. 2013;14(5–6):457–62. https://doi.org/10.3109/21678421.2013.771367Test.; Wang X.-.B, Cui N.-H., Gao J.-J. et al. SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: evidence from a meta-analysis. J Neurol Sci. 2014;340(1–2):63–8. https://doi.org/10.1016/j.jns.2014.02.026Test.; Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б. и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика. 2019;18(2):3–23. https://doi.org/10.25557/2073-7998.2019.02.3-23Test.; Ar Rochmah M., Awano H., Awaya T. et al. Spinal muscular atrophy carriers with two SMN1 copies. Brain Dev. 2017;39(10):851–60. https://doi.org/10.1016/j.braindev.2017.06.002Test.; Забненкова В.В., Дадали Е.Л., Артемьева С.Б. и др. Точковые мутации в гене SMN1 у больных проксимальной спинальной мышечной атрофией I–IV типа, имеющих одну копию гена SMN1. Генетика. 2015;51(9):1075–82. https://doi.org/10.7868/S0016675815080123Test.; Theodorou L., Nicolaou P., Koutsou P. et al. Genetic findings of Cypriot spinal muscular atrophy patients. Neurol Sci. 2015;36(10):1829–34. https://doi.org/10.1007/s10072-015-2263-5Test.; Souček .P, Réblová K., Kramárek M. et al. High-throughput analysis revealed mutations’ diverging effects on SMN1 exon 7 splicing. RNA Biol. 2019;16(10):1364–76. https://doi.org/10.1080/15476286.2019.1630796Test.; Sneha P., Zenith T.U., Abu Habib U.S. et al. Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach. Metab Brain Dis. 2018;33(6):1823–34. https://doi.org/10.1007/s11011-018-0285-4Test.; Ganji H., Nouri N., Salehi M. et al. Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1. J Child Neurol. 2015;30(5):558–62. https://doi.org/10.1177/0883073814521297Test.; Zhao X., Wang Y., Mei S. et al. Identification of two novel SMN1 point mutations associated with a very severe SMA-I phenotype. Eur J Med Genet. 2020;63(9):104006. https://doi.org/10.1016/j.ejmg.2020.104006Test.; Wijaya Y.O.S., Ar Rohmah M., Niba E.T.E. et al. Phenotypes of SMA patients retaining SMN1 with intragenic mutation. Brain Dev. 2021;43(7):745–58. https://doi.org/10.1016/j.braindev.2021.03.006Test.; Кудрявцева Е.В. Философские, медицинские и юридические аспекты репродуктивной генетики. Уральский медицинский журнал. 2018;(13):54–7. https://doi.org/10.25694/URMJ.2018.13.46Test.; Ижевская В.Л., Баранова Е.Е. Информированное согласие при генетическом тестировании и скрининге. Медицинская генетика. 2022;21(4):16–24. https://doi.org/10.25557/2073-7998.2022.04.16-24Test.; Михальчук К.А., Забненкова В.В., Щагина О.А., Поляков А.В. Спектр минорных вариантов локуса SMN. Медицинская генетика. 2022;21(10):19–22. https://doi.org/10.25557/2073-7998.2022.10.19-22Test.; https://www.gynecology.su/jour/article/view/1869Test
الإتاحة: https://doi.org/10.17749/2313-7347/ob.gyn.rep.2023.441Test
https://doi.org/10.1093/humupd/dmv016Test
https://doi.org/10.17650/2222-8721-2013-0-3-27-31Test
https://doi.org/10.1016/S01406736Test(08)60921-6
https://doi.org/10.15690/vramn1768Test
https://doi.org/10.1007/s10815-022-02519-8Test
https://doi.org/10.13140/RG.2.2.16245.60642Test
https://doi.org/10.1038/ejhg.2011.134Test
https://doi.org/10.1007/s10072-020-04365-xTest
https://doi.org/10.1007/s10897-015-9859-zTest -
3دورية أكاديمية
المؤلفون: S. B. Artemyeva, O. A. Shidlovskaya, Yu. O. Papina, A. V. Monakhova, I. V. Shulyakova, E. D. Belousova, O. Yu. Germanenko, D. V. Vlodavets, С. Б. Артемьева, О. А. Шидловская, Ю. О. Папина, А. В. Монахова, И. В. Шулякова, Е. Д. Белоусова, О. Ю. Германенко, Д. В. Влодавец
المصدر: Neuromuscular Diseases; Том 14, № 1 (2024); 86-92 ; Нервно-мышечные болезни; Том 14, № 1 (2024); 86-92 ; 2413-0443 ; 2222-8721
مصطلحات موضوعية: патогенетическое лечение, gene SMN1, gene SMN2, 4 copies, pathogenetical treatment, ген SMN1, ген SMN2, 4 копии
وصف الملف: application/pdf
العلاقة: https://nmb.abvpress.ru/jour/article/view/593/380Test; Wirth B., Karakaya M., Kye M.J., 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;21:231–61. DOI:10.1146/annurev-genom-102319-103602; Groen E.J.N., Talbot K., Gillingwater T.H. Advances in therapy for spinal muscular atrophy: Promises and challenges. Nat Rev Neurol 2018;14:214–24. DOI:10.1038/nrneurol.2018.4; Singh R.N., Howell M.D., Ottesen E.W., Singh N.N. Diverse role of survival motor neuron protein. Biochim Biophys Acta 2017;1860:299–315. DOI:10.1016/j.bbagrm.2016.12.008; Foust K.D., Wang X., McGovern V.L. et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 2010;28:271–4. DOI:10.1038/nbt.1610; Annoussamy M., Seferian A.M., Daron A. et al. Natural history of type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study. Ann Clin Trans Neurol 2021;8:359–73. DOI:10.1002/acn3.51281; Calucho A., Bernal S., Alías 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. J Neuromuscul Dis 2018;28(3):208–15. DOI:10.1016/j.nmd.2018.01.003; Клинические рекомендации «Проксимальная спинальная мышечная атрофия 5q». 2023.; Glascock J., Sampson J., Haidet-Phillips A. et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis 2018;5(2):145–58. DOI:10.3233/JND-180304; Glascock J., Sampson J., Connolly A.M. et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul Dis 2020;7(2):97–100. DOI:10.3233/JND-190468.; Nusinersen Effect in Infants in the Presymptomatic Stage of SMA: 4.9-Year Interim of the NURTURE Study. Crawford TO, EPNS Congress.; Instruction for medical use of the medicinal product Spinraza LP-005730 dated 10.01.2023. (In Russ.); Инструкция по медицинскому применению лекарственного препарата Эврисди ЛП-006602 от 12.01.2023 г.; Общая характеристика лекарственного препарата Золгенсма. Доступно по: https://www.novartis.com/ru-ru/sites/novartis_ru/files/2022-11-28-Zolgensma-SmPC.pdfTest.; Cure SMA 2023, Annual SMA Research & Clinical Care Meeting, June 28–30, 2023, Orlando, FL, USA.; https://nmb.abvpress.ru/jour/article/view/593Test
الإتاحة: https://doi.org/10.17650/2222-8721-2024-14-1-86-92Test
https://doi.org/10.1146/annurev-genom-102319-103602Test
https://doi.org/10.1038/nrneurol.2018.4Test
https://doi.org/10.1016/j.bbagrm.2016.12.008Test
https://doi.org/10.1038/nbt.1610Test
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https://doi.org/10.1016/j.nmd.2018.01.003Test
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https://doi.org/10.3233/JND-190468Test
https://nmb.abvpress.ru/jour/article/view/593Test -
4دورية أكاديمية
المؤلفون: Anna Łusakowska, Adrianna Wójcik, Anna Frączek, Karolina Aragon-Gawińska, Anna Potulska-Chromik, Paweł Baranowski, Ryszard Nowak, Grzegorz Rosiak, Krzysztof Milczarek, Dariusz Konecki, Zuzanna Gierlak-Wójcicka, Małgorzata Burlewicz, Anna Kostera-Pruszczyk
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Patient global impression – improvement, Computed tomography–guided lumbar puncture, Functional tests, Nusinersen, Scoliosis, SMN2 gene, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: M. A. Akhkiamova, O. A. Shchagina, A. V. Polyakov, М. А. Ахкямова, О. А. Щагина, А. В. Поляков
المصدر: Neuromuscular Diseases; Том 13, № 4 (2023); 62‑73 ; Нервно-мышечные болезни; Том 13, № 4 (2023); 62‑73 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-4
مصطلحات موضوعية: модифицирующие факторы, SMN1, SMN2, modifying factors
وصف الملف: application/pdf
العلاقة: https://nmb.abvpress.ru/jour/article/view/574/367Test; Tisdale S., Pellizzoni L. Disease mechanisms and therapeutic approaches in spinal muscular atrophy. J Neurosci 2015;35(23):8691–700. DOI:10.1523/JNEUROSCI.0417-15.2015; Ogino S., Leonard D.G., Rennert H. et al. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet 2002;110:301–7. DOI:10.1002/ajmg.10425; 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; 152A:1605–7. DOI:10.1002/ajmg.a.33474; Zabnenkova V.V., Dadali E.L., Spiridonova M.G. et al. Spinal muscular atrophy carrier frequency in Russian Federation. ASHG 2016;2476. DOI:10.13140/RG.2.2.16245.60642; Sugarman E.A., Nagan N., Zhu H. et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: Clinical laboratory analysis of >72400 specimens. Eur J Hum Genet 2012;20:27–32. DOI:10.1038/ejhg.2011.134; Chaytow H., Huang YT., Gillingwater T.H., Faller K.M.E. The role of survival motor neuron protein (SMN) in protein homeostasis. Cell Mol Life Sci 2018;75:3877–94. DOI:10.1007/s00018-018-2849-1; Singh R.N., Howell M.D., Ottesen E.W. Singh N.N. Diverse role of survival motor neuron protein. Biochim Biophys Acta 2017;1860(3):299–315. DOI:10.1016/j.bbagrm.2016.12.008; Lefebvre S., Bürglen,L., Reboullet S. et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80(1):155–65. DOI:10.1016/0092-8674(95)90460-3; Butchbach M.E.R. 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;22(15):7896. DOI:10.3390/ijms22157896; Ogino S., Wilson R.B. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn 2004;4(1):15–29. DOI:10.1586/14737159.4.1.15; Ruhno C., McGovern V.L., Avenarius M.R. et al. Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype. Hum Gen 2019;138(3):241–56. DOI:10.1007/s00439-019-01983-0; Диль А.В., Назаров В.Д., Сидоренко Д.В. и др. Исследование особенностей генетических изме‑ нений гена SMN1 при спинальной мышечной атрофии 5q. Нервно-мышечные болезни 2022;12(3):36–44. DOI:10.17650/2222-8721-2022-12-3-36-44; Wu X., Wang S.H., Sun J. et al. A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Hum Mol Genet 2017;26(14):2768–80. DOI:10.1093/hmg/ddx166; Wirth B., Herz M., Wetter A. et al. Quantitative analysis of survival motor neuron copies: Identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation and implications for genetic counseling. Am J Hum Gene 1999;64(5):1340–56. 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الإتاحة: https://doi.org/10.17650/2222-8721-2023-13-62-73Test
https://doi.org/10.17650/2222-8721-2023-13-4Test
https://doi.org/10.1523/JNEUROSCI.0417-15.2015Test
https://doi.org/10.1002/ajmg.10425Test
https://doi.org/10.1002/ajmg.a.33474Test
https://doi.org/10.13140/RG.2.2.16245.60642Test
https://doi.org/10.1038/ejhg.2011.134Test
https://doi.org/10.1007/s00018-018-2849-1Test
https://doi.org/10.1016/j.bbagrm.2016.12.008Test
https://doi.org/10.1016/0092-8674Test(95)90460-3 -
6دورية أكاديمية
المؤلفون: Faisal Ibrahim, Dinesh Velayutham, Mohamed Alsharshani, Usama AlAlami, Manar AlDewik, Tala Abuarja, Hilal Al Rifai, Nader I. Al‐Dewik
المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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7دورية أكاديمية
المؤلفون: Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan
المصدر: Global Medical Genetics, Vol 10, Iss 02, Pp 117-122 (2023)
مصطلحات موضوعية: spinal muscular atrophy, smn1, smn2, copy number, consanguinity, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2699-9404Test
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8دورية أكاديمية
المصدر: Balneo and PRM Research Journal, Vol 15, Iss 3, p 643 (2024)
مصطلحات موضوعية: neurofilaments, phosphorylated neurofilament heavy subunit (pnfh), spinal muscular atrophy (sma), smn2 gene, nusinersen, biomarkers, pediatric population, motor function, cerebrospinal fluid (csf), treatment efficacy, Science
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Heba A. Hassan, Nagia A. Fahmy, Nagham M. El-Bagoury, Noura R. Eissa, Wessam E. Sharaf-Eldin, Mahmoud Y. Issa, Maha S. Zaki, Mona L. Essawi
المصدر: Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Spinal muscular atrophy, SMN1, SMN2, NAIP, MLPA, SMA, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-2441Test
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10دورية أكاديمية
المؤلفون: Anton Kiselev, Marianna Maretina, Sofia Shtykalova, Haya Al-Hilal, Natalia Maslyanyuk, Mariya Plokhih, Elena Serebryakova, Marina Frolova, Natalia Shved, Nadezhda Krylova, Arina Il’ina, Svetlana Freund, Natalia Osinovskaya, Iskender Sultanov, Anna Egorova, Anastasia Lobenskaya, Alexander Koroteev, Irina Sosnina, Yulia Gorelik, Olesya Bespalova, Vladislav Baranov, Igor Kogan, Andrey Glotov
المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 9 (2024)
مصطلحات موضوعية: spinal muscular atrophy, newborn screening, SMN1, SMN2, real-time PCR, dried blood spots, Pediatrics, RJ1-570
وصف الملف: electronic resource
النص الكامل