يعرض 1 - 20 نتائج من 298 نتيجة بحث عن '"M. A. Fomina"', وقت الاستعلام: 2.74s تنقيح النتائج
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    المصدر: The Scientific Notes of the Pavlov University; Том 30, № 4 (2023); 79-90 ; Учёные записки Первого Санкт-Петербургского государственного медицинского университета имени академика И. П. Павлова; Том 30, № 4 (2023); 79-90 ; 2541-8807 ; 1607-4181 ; 10.24884/1607-4181-2023-30-4

    وصف الملف: application/pdf

    Relation: https://www.sci-notes.ru/jour/article/view/1003/pdf_348; https://www.sci-notes.ru/jour/article/downloadSuppFile/1003/967; Stenton S. L., Prokisch H. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis // EBioMedicine. – 2020. – Vol. 56. – P. 102784. DOI:10.1016/j.ebiom.2020.102784.; Tan J., Wagner M., Stenton S. L. et al. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases // EBioMedicine. – 2020. – Vol. 54. – P. 102730.; Wesol-Kucharska D., Rokicki D., Jezela-Stanek A. Epilepsy in mitochondrial diseases-current state of knowledge on aetiology and treatment // Children. – 2021. – Vol. 8. – P. 532. DOI: 103390.; Lim A., Thomas R. H. The mitochondrial epilepsies // Eur. J. Paediatr. Neurol. – 2020. – Vol. 24. – P. 47–52.; Fisher R. S., Cross J. H., French J. A. et al. Operational classification of seizure types by the International League against Epilepsy: Position Paper of the ILAE Commissionfor Classification and Terminology // Epilepsia. – 2017. – Vol. 58. – P. 522–530.; Marbois B., Gin P., Gulmezian M., Clarke C. F. The yeast Coq4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis // Biochim. Biophys. Acta. – 2009. – Vol. 1791, № 1. – P. 69–75.; Gherardi G., Corbioli G., Ruzza F., Rizzuto R. CoQ10 and resveratrol effects to ameliorate aged-related mitochondrial dysfunctions // Nutrients. – 2022. – Vol. 14. – P. 4326. DOI:10.3390/nu14204326.; Sifuentes-Franco S., Sanchez-Marcias D. C., Carrillo-Ibarra S. et al. Antioxidant and Anti-Inflammatory Effects of Coenzyme Q10 Supplementation on Infectious Diseases // Healthcare. – 2022. – Vol. 10, № 3. – P. 487. DOI:10.3390/healthcare10030487.; Wang S., Jain A., Novales N. A. et al. Predicting and Understanding the Pathology of Single Nucleotide Variants in Human COQ Genes // Antioxidants. – 2022. – Vol. 11. – P. 2308. DOI:10.3390/antiox11122308.; Alcázar-Fabra M., Rodríguez-Sánchez F., Trevisson E., Brea-Calvo G. Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations // Free Radical Biology and Medicine. – 2021. – Vol. 167, № 1. – P. 141–180.; Wang Y., Hekimi S. The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: a systematic review // J Cell Mol Med. – 2022. – Vol. 26, № 17. – P. 4635–4644. DOI:10.1111/jcmm.17488.; Wesół-Kucharska D., Rokicki D., Jezela-Stanek A. Epilepsy in mitochondrial diseases – current state of knowledge on aetiology and treatment // Children. – 2021. – Vol. 8. – P. 532. DOI:10.3390/children8070532.; Campisi L., La Motta C. The use of the Coenzyme Q10 as a food supplement in the management of fibromyalgia: a critical review // Antioxidants. – 2022. – Vol. 11, №10. – P. 1969. DOI:10.3390/antiox11101969.; Chung W. K., Martin K., Jalas C. et al. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy // J Med Genet. – 2015. – Vol. 52. – P. 627–35.; Bosch A. M., Kamsteeg E.-J., Rodenburg R. J. et al. Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhoodonset spinocerebellar ataxia and stroke-like episodes // Mol. Geneticsvand metabolism Report. – 2018. – Vol. 17. – P. 19–21.; Brea-Calvo G., Haack T. B., Karall D. et al. COQ4 Mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency // The American J of Human genetics. – 2015. – Vol. 96. – P. 309–317.; Ticci C., Sicca F., Ardissone A.et al. Mitochondrial epilepsy: A cross-sectional nationwide Italian survey // Neurogenetics. – 2020. – Vol. 2. – P. 87–96.; Loprione P., Gomes F., Montano V. et al. Mitochondrial epilepsy, a challenge for neurologists // Inf J. Ned Sci. – 2022. – Vol. 23. – P. 13216. DOI: 103390.; Sondheimer N., Newson S., Cameron J. M. et al. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated withCoQ10 deficiency // Mol Genetics and Metabolism Report. – 2017. – Vol. 12. – P. 23–27.; Yu M. H., Tsang M. H., Lai S. et al. Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese // NPJ Genom Med. – 2019. – Vol. 4. – P. 18. DOI:10.1038/s41525-019-009s.; https://www.sci-notes.ru/jour/article/view/1003

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    المصدر: Труды по прикладной ботанике, генетике и селекции, Vol 182, Iss 2, Pp 107-113 (2021)

    وصف الملف: electronic resource

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    المؤلفون: M. A., Fomina

    المصدر: International Journal of Inclusive and Sustainable Education; Vol. 1 No. 4 (2022): INTERNATIONAL JOURNAL OF INCLUSIVE AND SUSTAINABLE EDUCATION; 170-171 ; 2833-5414 ; 10.51699/ijise.v1i4

    وصف الملف: application/pdf

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