المؤلفون: A. F. Murtazina, P. N. Tsabay, G. E. Rudenskaya, L. A. Bessonova, F. M. Bostanova, D. M. Guseva, I. V. Sharkova, O. A. Shchagina, A. A. Orlova, O. P. Ryzhkova, T. V. Markova, A. S. Kuchina, S. S. Nikitin, E. L. Dadali, А. Ф. Муртазина, П. Н. Цабай, Г. Е. Руденская, Л. А. Бессонова, Ф. М. Бостанова, Д. М. Гусева, И. В. Шаркова, О. А. Щагина, А. А. Орлова, О. П. Рыжкова, Т. В. Маркова, А. С. Кучина, С. С. Никитин, Е. Л. Дадали

المصدر: Neuromuscular Diseases; Том 13, № 2 (2023); 42-55 ; Нервно-мышечные болезни; Том 13, № 2 (2023); 42-55 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2023-13-2

مصطلحات موضوعية: TRPV4, Charcot–Marie–Tooth disease 2C, scapuloperoneal spinal muscular atrophy, congenital distal spinal muscular atrophy, болезнь Шарко–Мари–Тута 2С, скапуло‑перонеальная спинальная мышечная атрофия, врожденная дистальная спинальная мышечная атрофия

وصف الملف: application/pdf

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الاتاحة: https://nmb.abvpress.ru/jour/article/view/542
https://doi.org/10.17650/2222-8721-2023-13-2-42-55

المؤلفون: B. D. Chaltsev, A. V. Torgashina, A. M. Lila, T. V. Markova, S. I. Kutsev, O. P. Ryzhkova, A. A. Orlova, A. V. Kokhno, T. I. Solovyova, V. N. Dvirnyk, A. M. Kovrigina, T. N. Obukhova, E. N. Parovichnikova, E. L. Nasonov, Б. Д. Чальцев, А. В. Торгашина, А. М. Лила, Т. В. Маркова, С. И. Куцев, О. П. Рыжкова, А. А. Орлова, А. В. Кохно, Т. И. Соловьева, В. Н. Двирнык, А. М. Ковригина, Т. Н. Обухова, Е. Н. Паровичникова, Е. Л. Насонов

المصدر: Modern Rheumatology Journal; Том 17, № 6 (2023); 92-101 ; Современная ревматология; Том 17, № 6 (2023); 92-101 ; 2310-158X ; 1996-7012

مصطلحات موضوعية: миелодиспластический синдром, macrocytic anemia, vasculitis, relapsing polychondritis, neutrophilic dermatosis, vacuolization of bone marrow cells, myelodysplastic syndrome, макроцитарная анемия, васкулит, рецидивирующий полихондрит, нейтрофильный дерматоз, вакуолизация клеток костного мозга

وصف الملف: application/pdf

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الاتاحة: https://mrj.ima-press.net/mrj/article/view/1509
https://doi.org/10.14412/1996-7012-2023-6-92-101

المؤلفون: Y. Strugar, A. A. Orlova, A. A. Ponkratova, A. K. Whaley, M. N. Povydysh, Й. Стругар, А. А. Орлова, А. О. Понкратова, А. К. Уэйли, М. Н. Повыдыш

المساهمون: Research results were obtained using the equipment of the Center for Collective Use "Analytical Center of Saint-Petersburg State Chemical and Pharmaceutical University" within the framework of agreement No. 075-15-2021-685 dated July 26, 2021 with the financial support of the Ministry of Education and Science of Russia., Результаты работы получены с использованием оборудования ЦКП «Аналитический центр ФГБОУ ВО СПХФУ Минздрава России» в рамках соглашения № 075-15-2021-685 от 26 июля 2021 года при финансовой поддержке Минобрнауки России.

المصدر: Drug development & registration; Том 11, № 4 (2022); 177-184 ; Разработка и регистрация лекарственных средств; Том 11, № 4 (2022); 177-184 ; 2658-5049 ; 2305-2066

مصطلحات موضوعية: флавоноиды, marsh cinquefoil, secondary metabolites, polyphenols, flavonoids, сабельник болотный, вторичные метаболиты, полифенолы

وصف الملف: application/pdf

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الاتاحة: https://www.pharmjournal.ru/jour/article/view/1375
https://doi.org/10.33380/2305-2066-2022-11-4-177-184

المؤلفون: A. A. Orlova, E. A. Kondrat'eva, Ya. A. Dubrovskii, N. V. Dryagina, E. V. Verbitskaya, S. A. Kondratev, A. A. Kostareva, A. N. Kondratev, А. А. Орлова, Е. А. Кондратьева, Я. А. Дубровский, Н. В. Дрягина, Е. В. Вербицкая, С. А. Кондратьев, А. А. Костарева, А. Н. Кондратьев

المساهمون: The study was supported by the Russian Foundation for Basic Research under Scientific Project No. 19-29-01066, Исследование выполнено при финансовой поддержке РФФИ в рамках научного проекта № 19-29-01066

المصدر: General Reanimatology; Том 18, № 2 (2022); 22-36 ; Общая реаниматология; Том 18, № 2 (2022); 22-36 ; 2411-7110 ; 1813-9779

مصطلحات موضوعية: мультидисциплинарный подход, vegetative state, unresponsive wakefulness syndrome, minimal consciousness state, metabolomics, metabolomic profile, blood-brain barrier, circadian rhythm, glymphatic system, prediction of consciousness recovery, multidisciplinary approach, вегетативное состояние, синдром ареактивного бодрствования, состояние минимального сознания, метаболомика, метаболомный профиль, гематоэнцефалический барьер, циркадианный ритм, глимфатическая система, прогнозирование восстановления сознания

وصف الملف: application/pdf

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الاتاحة: https://www.reanimatology.com/rmt/article/view/2210
https://doi.org/10.15360/1813-9779-2022-2-22-36

المؤلفون: A. O. Ponkratova, A. K. Whaley, A. A. Orlova, S. N. Smirnov, E. B. Serebryakov, V. G. Luzhanin, А. О. Понкратова, А. К. Уэйли, А. А. Орлова, С. Н. Смирнов, Е. Б. Серебряков, В. Г. Лужанин

المصدر: Drug development & registration; Том 10, № 2 (2021); 80-86 ; Разработка и регистрация лекарственных средств; Том 10, № 2 (2021); 80-86 ; 2658-5049 ; 2305-2066

مصطلحات موضوعية: вторичные метаболиты, Empetrum nigrum, condensed tannins, A-type proanthocyanidins, secondary metabolites, конденсированные танины, проантоцианидины типа А

وصف الملف: application/pdf

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الاتاحة: https://www.pharmjournal.ru/jour/article/view/918
https://doi.org/10.33380/2305-2066-2021-10-2-80-86

المؤلفون: O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov, О. А. Щагина, О. П. Рыжкова, А. Л. Чухрова, Т. Б. Миловидова, П. Гундорова, О. Л. Миронович, А. А. Орлова, М. Д. Орлова, А. В. Поляков

المصدر: Neuromuscular Diseases; Том 10, № 4 (2020); 12-26 ; Нервно-мышечные болезни; Том 10, № 4 (2020); 12-26 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2020-10-4

مصطلحات موضوعية: наследственная периферическая нейропатия, HMSN, Charcot–Marie–Tooth disease, CMT, whole exome sequencing, WES, inherited peripheral neuropathy, болезнь Шарко–Мари–Тута, полноэкзомное секвенирование

وصف الملف: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/404/279; Barreto L.C.L.S., Oliveira F.S., Nunes P.S. et al. Epidemiologic study of Charcot–Marie–Tooth disease: a systematic review. Neuroepidemiology 2016;46(3):157–65. DOI:10.1159/000443706. PMID: 26849231.; Baets J., Timmerman V. Inherited peripheral neuropathies: a myriad of genes and complex phenotypes. Brain 2011;134(6):1587–90. DOI:10.1093/brain/awr114.; Drew A.P., Zhu D., Kidambi A. et al. Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. Mol Genet Genomic Med 2015;3(2):143–54. DOI:10.1002/mgg3.126. PMID: 25802885.; Hartley T., Wagner J.D., WarmanChardon J. et al. Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. Clin Genet 2018;93(2):301–9. DOI:10.1111/cge.13101. PMID: 28708278.; Schabhüttl M., Wieland T., Senderek J. et al. Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. J Neurol 2014;(261):970–82. DOI:10.1007/s00415-014-7289-8. PMID: 24627108.; Gonzaga-Jauregui C., Harel T., Gambin T. et al. Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Rep 2015;12(7):1169–83. DOI:10.1016/j.celrep.2015.07.023. PMID: 26257172.; Richards S., Aziz N., Bale S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;(17):405–23. DOI:10.1038/gim.2015.30. PMID: 25741868.; Щагина О.А., Дадали Е.Л., Федотов В.П., Поляков А.В. Спектр мутаций в гене MFN2 у больных наследственной моторно-сенсорной нейропатией II А типа. Медицинская генетика 2006;5(9):21–6.; Дадали Е.Л., Щагина О.А., Федотов В.П. Клинико-генетические особенности моторно-сенсорной нейропатии IIА типа. Анналы клинической и экспериментальной неврологии 2007;1(4):10–5.; Миловидова Т.Б., Дадали Е.Л., Федотов В.П. и др. Клинико-генетичекие корреляции при наследственной моторно-сенсорной нейропатии, вызванной мутациями в гене МРZ (P0). Журнал неврологии и психиатрии им. С.С. Корсакова 2011;111(12):48–55.; Latour P., Thauvin-Robinet C., BaudeletMéry C. et al. A major determinant for binding and aminoacylation of tRNAAla in cytoplasmic alanyl-trna synthetase is mutated in dominant axonal charcotmarie-tooth disease. Am J Hum Genet 2010;86(1):77–82. DOI:10.1016/j.ajhg.2009.12.005. PMID: 20045102.; Shchagina O.A., Milovidova T.B., Murtazina A.F. et al. HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients. Mol Biol Rep 2020;(47):1331–7. DOI:10.1007/s11033-019-05238-z.; Дадали Е.Л., Никитин С.С., Курбатов С.А. и др. Клинико-генетические характеристики аутосомно-рецессивной аксональной нейропатии с нейромиотонией у больных из России. Нервно-мышечные болезни 2017;7(3): 47–55. DOI:10.17650/2222-8721-2017-7-3-47-55.; https://nmb.abvpress.ru/jour/article/view/404

الاتاحة: https://nmb.abvpress.ru/jour/article/view/404
https://doi.org/10.17650/2222-8721-2020-10-4-12-26

المؤلفون: A. F. Murtazina, T. V. Markova, A. A. Orlova, O. P. Ryzhkova, O. A. Shchagina, E. L. Dadali, А. Ф. Муртазина, Т. В. Маркова, А. А. Орлова, О. П. Рыжкова, О. А. Щагина, Е. Л. Дадали

المصدر: Neuromuscular Diseases; Том 11, № 4 (2021); 48-54 ; Нервно-мышечные болезни; Том 11, № 4 (2021); 48-54 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2021-11-4

مصطلحات موضوعية: спастическая атаксия, POLR3A, spastic ataxia

وصف الملف: application/pdf

Relation: https://nmb.abvpress.ru/jour/article/view/468/309; Pouwels P.J., Vanderver A., Bernard G. et al. Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol 2014;76(1):5–19. DOI:10.1002/ana.24194.; Timmons M., Tsokos M., Asab M.A. et al. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology 2006;67:2066–9. DOI:10.1212/01.wnl.0000247666.28904.35.; Wolf N.I., Vanderver A., van Spaendonk R.M. et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014;83:1898–905. DOI:10.1212/WNL.0000000000001002.; Atrouni S., Daraze A., Tamraz J. et al. Leukodystrophy associated with oligodontia in a large inbred family: Fortuitous association or new entity? Am J Med Genet A 2003;118A:76–81. DOI:10.1002/ajmg.a.10019.; Bernard G., Chouery E., Putorti M.L. et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy [published correction appears in Am J Hum Genet 2012;91(5):972]. Am J Hum Genet 2011;89(3):415–23. DOI:10.1016/j.ajhg.2011.07.014.; Choquet K., Forget D., Meloche E. et al. Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200. J Biol Chem 2019;294:7445–59. DOI:10.1074/jbc.RA118.006271.; Thiffault I., Wolf N.I., Forget D. et al. Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nat Commun 2015;6:7623. DOI:10.1038/ncomms8623.; Bernard G., Thiffault I., Tetreault M. et al. Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. Neurogenetics 2010;11:457–64. DOI:10.1007/s10048-010-0251-8.; La Piana R., Cayami F.K., Tran L.T. et al. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 2016;86(17):1622–6. DOI:10.1212/WNL.0000000000002612.; Perrier S., Gauquelin L., Fallet-Bianco C. et al. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020;6(3):e425. DOI:10.1212/NXG.0000000000000425.; Minnerop M., Kurzwelly D., Wagner H. et al. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 2017;140(6):1561–78. DOI:10.1093/brain/awx095.; Ruggiero L., Iovino A., Dubbioso R. et al. Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations. Ann Clin Transl Neurol 2020;7(11):2326–331. DOI:10.1002/acn3.51221.; Wambach J.A., Wegner D.J., Patni N. et al. Bi-allelic POLR3A loss-of-function variants cause autosomal-recessive Wiedemann–Rautenstrauch syndrome. Am J Hum Genet 2018;103(6):968–75. DOI:10.1016/j.ajhg.2018.10.010.; Bernard G., Vanderver A. POLR3-Related Leukodystrophy. 2012. In: GeneReviews®. Eds.: Adam M.P., Ardinger H.H., Pagon R.A. et al. Seattle: University of Washington, 1993–2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK99167/.; Harting I., Al-Saady M., Krageloh-Mann I. et al. POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics. 2020;21(2):121–33. DOI:10.1007/s10048-019-00602-4.; Hiraide T., Kubota K., Kono Y. et al. POLR3A variants in striatal involvement without diffuse hypomyelination. Brain Dev 2020;42(4):363–8. DOI:10.1016/j.braindev.2019.12.012.; Infante J., Serrano-Cárdenas K.M., Corral-Juan M. et al. POLR3A-related spastic ataxia: new mutations and a look into the phenotype. J Neurol 2020;2.67(2):324–30. DOI:10.1007/s00415-019-09574-9.; https://nmb.abvpress.ru/jour/article/view/468

الاتاحة: https://nmb.abvpress.ru/jour/article/view/468
https://doi.org/10.17650/2222-8721-2021-11-4-48-54

المؤلفون: Орлова;а. А., Орлова;а. А.

المصدر: Scientific Journal of Chernihiv State Institute of Economics & Management. Series 1, Economics. 2013, Issue 1, p188-188. 2/3p.