المؤلفون: E. K. Erokhina, E. A. Melnik, D. V. Vlodavets, Е. К. Ерохина, Е. А. Мельник, Д. В. Влодавец

المصدر: Russian Journal of Child Neurology; Том 18, № 1 (2023); 22-37 ; Русский журнал детской неврологии; Том 18, № 1 (2023); 22-37 ; 2412-9178 ; 2073-8803 ; undefined

مصطلحات موضوعية: мультисистемные проявления, congenital myotonic dystrophy type 1, infantile myotonic dystrophy type 1, juvenile myotonic dystrophy type 1, classic myotonic dystrophy type 1, CTG-repeat, multi-system manifestations, врожденная форма миотонической дистрофии 1-го типа, инфантильная форма миотонической дистрофии 1-го типа, ювенильная форма миотонической дистрофии 1-го типа, классическая форма миотонической дистрофии 1-го типа, CTG-повторы

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2073-8803-2023-18-1-22-37Test
https://doi.org/10.25557/2073-7998.2018.12.44-51Test
https://doi.org/10.25692/ACEN.2019.1.2Test
https://doi.org/10.1093/jncics/pky052Test
https://doi.org/10.1016/j.neurol.2016.08.003Test
https://doi.org/10.3390/genes11111321Test
https://doi.org/10.1007/s00415-018-8773-3Test
https://doi.org/10.1007/s00234-020-02611-9Test
https://doi.org/10.1016/j.nmd.2015.02.013Test
https://doi.org/10.1542/peds.113.4.811Test

المؤلفون: K. Yu. Mukhin, O. A. Pylaeva, M. Yu. Bobylova, V. A. Chadaev, К. Ю. Мухин, О. А. Пылаева, М. Ю. Бобылова, В. А. Чадаев

المصدر: Russian Journal of Child Neurology; Том 16, № 1-2 (2021); 10-41 ; Русский журнал детской неврологии; Том 16, № 1-2 (2021); 10-41 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2021-16-1-2

مصطلحات موضوعية: терапия, developmental encephalopathy, early epileptic encephalopathy, CDKL5 gene, epilepsy, clinical manifestations, diagnosis, therapy, энцефалопатия развития, ранняя эпилептическая энцефалопатия, ген CDKL5, эпилепсия, клинические проявления, диагностика

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2073-8803-2021-16-1-2-10-4110.17650/2073-8803-2021-16-1-210.17116/jnevro20191191123410.17650/2073-8803-2019-14-3-28-3610.17650/2073-8803-2012-7-1-3-2010.17650/2073-8803-2017-12-1-08-2010.17650/2073-8803-2017-12-1-21-3510.17650/2073-8803-2017-12-3-7-3310.1016/j.braindev.2016.10.00710.1159/00033133310.1093/brain/awn19710.1016/j.neuropharm.2019.10789710.1093/hmg/ddx23710.1097/WCO.0b013e32833735cf10.1016/j.biopsych.2015.08.02810.1016/j.yebeh.2018.05.01310.1186/1866-1955-7-210.1212/WNL.000000000000335210.1038/ejhg.2012.15610.1155/2019/695693410.1016/S0387-7604Test(85)80037-110.3390/brainsci1002010710.1086/37553810.1155/2012/40359210.3389/fneur.2018.005310.1002/humu.2326310.1016/j.eplepsyres.2018.07.01310.1111/epi.1381310.1186/s13023-016-0418-y10.1111/epi.1280310.1016/j.ejpn.2015.09.00110.1016/j.pediatrneurol.2019.02.01510.1007/s10048-009-0177-110.1136/jmg.2004.02623710.1038/gim.2017.11410.1038/s41467-019-10689-w10.1093/hmg/ddy10810.1086/42646210.1016/j.braindev.2014.07.00310.1186/1471-2350-15-24
https://rjdn.abvpress.ru/jour/article/view/360Test

المؤلفون: A. S. Kotov, K. V. Firsov, К. В. Фирсов, А. С. Котов

المصدر: Russian Journal of Child Neurology; Том 12, № 3 (2017); 51-57 ; Русский журнал детской неврологии; Том 12, № 3 (2017); 51-57 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2017-12-3

مصطلحات موضوعية: агалсидаза бета, neurological manifestations, agalsidase alfa, agalsidase beta, неврологические проявления, агалсидаза альфа

وصف الملف: application/pdf

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المؤلفون: E. V. Shishkina, M. V. Barkhatov, E. V. Borisova, S. O. Falalaleeva, N. A. Shchekaleva, N. Yu. Makarevskaya, M. A. Chubko, Е. В. Шишкина, М. В. Бархатов, Е. В. Борисова, С. О. Фалалеева, Н. А. Щекалева, Н. Ю. Макаревская, М. А. Чубко

المصدر: Russian Journal of Child Neurology; Том 11, № 3 (2016); 57-61 ; Русский журнал детской неврологии; Том 11, № 3 (2016); 57-61 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2016-11-3

مصطلحات موضوعية: лечение, mitochondrial diseases, NARP syndrome, neuropathy syndrome, ataxia, retinitis pigmentosa syndrome, clinical manifestations, diagnosis, treatment, митохондриальные болезни, NARP-синдром, синдром нейропатии, атаксии, пигментного ретинита, клинические проявления, диагностика

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المؤلفون: K. Yu. Mukhin, O. A. Pylaeva, A. F. Dolinina, S. Moiseeva, Yu. V. Verbitskaya, A. S. Petrukhin, G. Kluger, H. Holthausen, M. Staudt, К. Ю. Мухин, О. А. Пылаева, А. Ф. Долинина, С. Моисеева, Ю. В. Вербицкая, А. С. Петрухин, Г. Клюгер, Х. Хольтхаузен, М. Штаудт

المصدر: Russian Journal of Child Neurology; Том 11, № 2 (2016); 26-32 ; Русский журнал детской неврологии; Том 11, № 2 (2016); 26-32 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2016-11-2

مصطلحات موضوعية: антиэпилептические препараты, epilepsy and mental retardation limited to females, epilepsy, epileptic seizure, development retardation, clinical manifestations, diagnosis, treatment, antiepileptic drugs, эпилепсия с умственной отсталостью, ограниченной женским полом, эпилепсия, эпилептический приступ, задержка развития, клинические проявления, диагноз, лечение

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المؤلفون: K. Yu. Mukhin, К. Ю. Мухин

المصدر: Russian Journal of Child Neurology; Том 11, № 2 (2016); 8-24 ; Русский журнал детской неврологии; Том 11, № 2 (2016); 8-24 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2016-11-2

مصطلحات موضوعية: хирургическое лечение, antiepileptic therapy, focal epilepsy, treatment-resistant epilepsies, focal cortical dysplasias, classification, clinical manifestations, prognosis, medical treatment, surgical treatment, антиэпилептическая терапия, фокальная эпилепсия, резистентные к лечению эпилепсии, фокальные кортикальные дисплазии, классификация, клинические проявления, прогноз, медикаментозное лечение

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المؤلفون: E. I. Semenova, Yu. V. Tokareva, Yu. A. Belova, A. S. Kotov, Yu. V. Eliseev, Е. И. Семёнова, Ю. В. Токарева, Ю. А. Белова, Алексей Сергеевич Котов, Ю. В. Елисеев

المصدر: Russian Journal of Child Neurology; Том 10, № 3 (2015); 43-47 ; Русский журнал детской неврологии; Том 10, № 3 (2015); 43-47 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2015-10-3

مصطلحات موضوعية: каннабиноиды, hypersomnia, hyperphagia, etiology, pathogenesis, clinical manifestations, diagnosis, treatment, amphetamine, cannabinoids, гиперсомния, гиперфагия, этиология, патогенез, клинические проявления, диагноз, лечение, амфетамин

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2073-8803-2015-10-3-43-4710.17650/2073-8803-2015-10-3Test
https://rjdn.abvpress.ru/jour/article/view/108Test

المؤلفون: K. Yu. Mukhin, O. A. Pylaeva, M. B. Mironov, A. F. Dolinina, D. V. Morozov, M. A. Nikitina, К. Ю. Мухин, О. А. Пылаева, М. Б. Миронов, А. Ф. Долинина, Д. В. Морозов, М. А. Никитина

المصدر: Russian Journal of Child Neurology; Том 9, № 4 (2014); 6-13 ; Русский журнал детской неврологии; Том 9, № 4 (2014); 6-13 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2014-9-4

مصطلحات موضوعية: диагностика, severe myoclonic epilepsy of early infancy, Dravet syndrome, genetic basis, SCN1A gene mutation, febrile seizures, myoclonic seizures, hemiclonic seizures, clinical manifestations, diagnostics, electroencephalographic characteristics, тяжелая миоклоническая эпилепсия младенчества, синдром Драве, генетические основы, мутация в гене SCN1A, фебрильные приступы, миоклонические приступы, гемиклонические приступы, клинические проявления

وصف الملف: application/pdf

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المؤلفون: I. G. Rudakova, K. Yu. Mukhin, M. B. Mironov, M. O. Abramov, И. Г. Рудакова, К. Ю. Мухин, М. Б. Миронов, М. О. Абрамов

المصدر: Russian Journal of Child Neurology; Том 9, № 3 (2014); 43-47 ; Русский журнал детской неврологии; Том 9, № 3 (2014); 43-47 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2014-9-3

مصطلحات موضوعية: лечение, etiology, pathogenesis, clinical manifestations, diagnosis, treatment, этиология, патогенез, клинические проявления, диагностика

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2073-8803-2014-9-3-43-47Test
https://doi.org/10.17650/2073-8803-2014-9-3Test
https://rjdn.abvpress.ru/jour/article/view/30Test

المؤلفون: K. Yu. Mukhin, M. B. Mironov, L. Yu. Glukhova, К. Ю. Мухин, М. Б. Миронов, Л. Ю. Глухова

المصدر: Russian Journal of Child Neurology; Том 9, № 3 (2014); 30-35 ; Русский журнал детской неврологии; Том 9, № 3 (2014); 30-35 ; 2412-9178 ; 2073-8803 ; 10.17650/2073-8803-2014-9-3

مصطلحات موضوعية: лечение, clinical manifestations, diagnosis, treatment, клинические проявления, диагностика

وصف الملف: application/pdf

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الإتاحة: https://doi.org/10.17650/2073-8803-2014-9-3-30-35Test
https://doi.org/10.17650/2073-8803-2014-9-3Test
https://rjdn.abvpress.ru/jour/article/view/28Test