Search Results - "Akimova, I A"

A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family by Chukhrova, A. L., Akimova, I. A., Shchagina, O. A., Kadnikova, V. A., Ryzhkova, O. P., Polyakov, A. V.

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Gillespiе syndrome, caused by previously undescribed mutation in the gene ITPR1 by Sharkova, I. V., Akimova, I. A., Khlebnikova, O. V., Dadali, E. L.

“…Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech…”
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New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene by Anisimova, I V, Dadali, E L, Konovalov, F A, Akimova, I A

“…To determine clinical and genetic characteristics of patients with non-syndromic mental retardation (NMR), type 20 with autosomal dominant type of inheritance…”
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CADASIL syndrome: differential diagnosis with multiple sclerosis by Danchenko, I Yu, Kulesh, A A, Drobakha, V E, Kanivets, I V, Akimova, I A, Monak, A A

“…Two cases of clinical and MRI manifestations of genetically verified CADASIL syndrome in female patients under 40 years of age are presented. The primary…”
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Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations by Dadali, E. L., Akimova, I. A., Konovalov, F. A., Shatalov, P. A., Krasnenko, A. Yu, Strelnikov, V. V., Ampleeva, M. A.

“…Early infantile epileptic encephalopathies (EIEE) are a group of disorders characterized by pharmacoresistant epileptic seizures manifesting in infancy and…”
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Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy by Semenova, N. A., Dadali, E. L., Sharkov, A. A., Akimova, I. A.

“…One of the most common neurological symptoms in children of the first year of life is seizures, the etiology of which is manifold. Investigations in recent…”
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Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations by Akimova, I. A., Markova, T. V., Konovalov, F. A., Antonets, A. V., Dadali, E. L.

“…To date, a large number of monogenic diseases and syndromes, in the clinical picture of which there are convulsions, a psycho-speech development delay and…”
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Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene by Dadali, E. L., Nikitin, S. S., Konovalov, F. A., Akimova, I. A., Korostelev, S. A.

“…Background.  Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of…”
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Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470) by Dadali, E. I., Akimova, I. A., Semenova, N. A., Guseva, D. M., Shchagina, O. A., Chukhrova, A. I., Kanivets, I. V., Korostelev, S. A.

“…Introduction . The description of the clinical and genetic characteristics of eight patients with autosomal-recessive variant pontocerebellar hypoplasia due to…”
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Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients by Dadali, E. L., Konovalov, F. A., Akimova, I. A., Sharkov, A. A., Rudenskaya, G. E., Mikhaylova, S. V., Korostelev, S. A.

“…Background. A large number of single gene disorders with seizures in clinical picture has been described. Among them, a special place is held by early-onset…”
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HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES by Dadali, E. L., Sharkov, A. A., Sharkova, I. V., Kanivets, I. V., Konovalov, F. A., Akimova, I. A.

“…The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is…”
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Effect of Adrenoblockers on Slow (LF) Waves in Rabbit Heart Rate by Sergeeva, O. V., Akimova, I. A., Antonov, I. S., Luzina, L. S., Alipov, N. N., Kuznetsova, T. E.

“…Propranolol and atenolol were used to examine the role of the adrenergic system in the genesis of slow HR variations (waves) in rabbits, the animals…”
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Клинико-генетические характеристики новых аллельных вариантов синдрома моват–Вилсона, обусловленного мутациями в гене ZEB2 by Акимова, И А, Маркова, Т В, Коновалов, Ф А, Антонец, А В, Дадали, Е Л, Akimova, I A, Markova, T V, Konovalov, F A, Antonets, A V, Dadali, E L

“…К настоящему времени описано большое количество моногенных заболеваний и синдромов, в клинической картине которых наблюдаются судороги, задержка темпов…”
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Клинико-генетические характеристики спинальной мышечной атрофии с преимущественным поражением ног, обусловленной мутациями в гене DYNC1H1 by Дадали, Е Л, Никитин, С С, Коновалов, Ф А, Акимова, И А, Коростелев, С А, Dadali, E L, Nikitin, S S, Konovalov, F A, Akimova, I A, Korostelev, S A

“…Введение. Спинальные мышечные атрофии (СМА) – группа генетически гетерогенных заболеваний, обусловленных мутациями в нескольких десятках генов. Одна из редких…”
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Клинико-генетические характеристики понтоцеребеллярной гипоплазии, обусловленной мутациями в гене TSEN54 (OMIM: 277470) by Дадали, Е Л, Акимова, И А, Семенова, Н А, Гусева, Д М, Щагина, О А, Чухрова, А Л, Канивец, И В, Коростелев, С А, Dadali, E I, Akimova, I A, Semenova, N A, Guseva, D M, Shchagina, O A, Chukhrova, A I, Kanivets, I V, Korostelev, S A

“…Введение. Представлено описание клинико-генетических характеристик 8 больных с аутосомно-рецессивным вариантом понтоцеребеллярных гипоплазий, обусловленных…”
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Особенности диагностики и клинико-генетические характеристики наследственных вариантов младенческой эпилепсии by Семенова, Н А, Дадали, Е Л, Шарков, А А, Акимова, И А, Semenova, N A, Dadali, E L, Sharkov, A A, Akimova, I A

“…Судороги различной этиологии являются одним из самых частых неврологических симптомов у детей первого года жизни. Результаты исследований последних лет…”
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Клинико-генетические характеристики ранней эпилептической энцефалопатии II типа, обусловленной мутациями в гене SCN2A by Дадали, Е Л, Коновалов, Ф А, Акимова, И А, Шарков, А А, Руденская, Г Е, Михайлова, С В, Коростелев, С А, Dadali, E L, Konovalov, F A, Akimova, I A, Sharkov, A A, Rudenskaya, G E, Mikhaylova, S V, Korostelev, S A

“…Введение. Описано большое количество моногенных заболеваний, в клинической картине которых наблюдаются судороги. Среди них особое место занимают ранние…”
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Epidemiology of ischemic heart disease and characteristics of atherosclerosis in male residents in Yakutsk by Alekseev, V P, Ivanov, K I, Konstantinov, V V, Zhdanov, V S, Akimova, A I, Osipova, O N, Krivoshapkin, V G

“…To study trends in prevalence, risk factors (RF) and mortality of ischemic heart disease (IHD), contribution of RF to risk of death due to IHD and other…”
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