Search Results - "S. A. Klyushnikov"

ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia by Shadrina, M I, Shulskaya, M V, Klyushnikov, S A, Nikopensius, T, Nelis, M, Kivistik, P A, Komar, A A, Limborska, S A, Illarioshkin, S N, Slominsky, P A

“…Spinocerebellar ataxias (SСAs) are a highly heterogeneous group of inherited neurological disorders. The symptoms of ataxia vary in individual patients and…”
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Molecular Pathogenesis in Huntington’s Disease by Illarioshkin, S. N., Klyushnikov, S. A., Vigont, V. A., Seliverstov, Yu. A., Kaznacheyeva, E. V.

“…Huntington’s disease (HD) is a severe autosomal dominant neurodegenerative disorder characterized by a combination of motor, cognitive, and psychiatric…”
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The first family case of spinocerebellar ataxia type 14 in Russia by Nuzhnyy, E. P., Abramycheva, N. Yu, Klyushnikov, S. A., Illarioshkin, S. N.

“…Spinocerebellar ataxia type 14 (SCA14) is a rare neurodegenerative disease with a predominant cerebellar affection and autosomal dominant inheritance. A…”
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Vladimir Karlov and the Research Center of Neurology: 70 years together by Piradov, M. A., Klyushnikov, S. A., Illarioshkin, S. N.

“…Multiple aspects covering multiannual close cooperation between Dr. V.A. Karlov and prominent scientists from the Research Center of Neurology have been…”
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Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes by Bychkov, I.O., Itkis, Y.S., Tsygankova, P.G., Krylova, T.D., Mikhaylova, S.V., Klyushnikov, S.A., Pechatnikova, N.L., Degtyareva, A.V., Nikolaeva, E.A., Seliverstov, Y.A., Kurbatov, S.A., Dadali, E.L., Rudenskaya, G.E., Illarioshkin, S.N., Zakharova, E.Y.

“…•The largest Russian cohort of patients with mtDNA maintenance disorders was analysed.•Some peculiar features of the mutational spectra for the TWNK and the…”
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Generation of induced pluripotent stem cell line RCPCMi008-A derived from patient with spinocerebellar ataxia 17 by Shuvalova, L.D., Davidenko, A.V., Eremeev, A.V., Khomyakova, E.A., Zerkalenkova, E.A., Lebedeva, O.S., Bogomazova, A.N., Klyushnikov, S.A., Illarioshkin, S.N., Lagarkova, M.A.

“…IPSC line RCPCMi004-8 was generated from skin fibroblasts collected from a male patient with spinocerebellar ataxia 17. The patient has expanded trinucleotide…”
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Estimate of the Effect of Ethylene Vinyl Acetate on Technological and Deformation Properties of Silane-Based Cross-Linked Polyethylene by Klyushnikov, S. A., Shishkinskaya, V. A., Osipchik, V. S., Kravchenko, T. P., Kladovshchikova, O. I., Pachina, A. N.

“…The silane cross linking of polyethylene and the parameters affecting the structure and degree of cross linking of the polymer have been studied; as well as…”
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Epigenetic Regulation of the Clinical Signs of Friedreich’s Disease by Nuzhny, E. P., Abramycheva, N. Yu, Nikolaeva, N. S., Ershova, M. V., Klyushnikov, S. A., Illarioshkin, S. N., Fedotova, E. Yu

“…Objectives. To study the methylation profile of the FXN gene and its influence on the formation of the clinical presentation of Friedreich’s disease (FD)…”
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Features of brain electrical activity in adult patients with POLG-related disorders by Fedin, P. A., Nuzhnyi, E. P., Noskova, T. Yu, Seliverstov, Yu. A., Klyushnikov, S. A., Krylova, T. D., Tsygankova, P. G., Zakharova, E. Yu, Illarioshkin, S. N.

“…Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain…”
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Diagnostic algorithm for autosomal recessive ataxia by Nuzhnyi, E P, Abramycheva, N Yu, Klyushnikov, S A, Seliverstov, Yu A, Vetchinova, A S, Pogoda, T V, Ershova, M V, Fedotova, E Yu, Illarioshkin, S N

“…To develop a complex algorithm for autosomal recessive ataxia (ARA) diagnosis applicable for Russian patients with degenerative ataxias. 48 patients with of…”
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Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features by Illarioshkin, S N, Bagieva, G K, Klyushnikov, S A, Ovchinnikov, I V, Markova, E D, Ivanova-Smolenskaya, I A

“…We examined a large Turkmen family with 'pseudo-dominant' inheritance of Friedreich's ataxia resulting from consanguineous marriage of a Friedreich's ataxia…”
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Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features by Illarioshkin, S. N., Bagieva, G. kH, Klyushnikov, S. A., Ovchinnikov, I. V., Markova, E. D., Ivanova-Smolenskaya, I. A.

“…We examined a large Turkmen family with ‘pseudo‐dominant’ inheritance of Friedreich's ataxia resulting from consanguineous marriage of a Friedreich's ataxia…”
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Experience of using MRI morphometry in Huntington’s disease by E. N. Yudina, R. N. Konovalov, N. Yu. Abramycheva, S. A. Klyushnikov, S. N. Illarioshkin

“…One of the most important inherited neurodegenerative disorders,Huntingtons disease (HD), is characterized by cerebral atrophy,the features of which need to be…”
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Molecular Genetic Analysis of Hereditary Neurodegenerative Diseases by Illarioshkin, S. N., Ivanova-Smolenskaya, I. A., Markova, E. D., Shadrina, M. I., Klyushnikov, S. A., Zagorovskaya, T. B., Miklina, N. I., Slominsky, P. A., Limborska, S. A.

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Spinocerebellar ataxia type 1 in Russia by Illarioshkin, S N, Slominsky, P A, Ovchinnikov, I V, Markova, E D, Miklina, N I, Klyushnikov, S A, Shadrina, M, Vereshchagin, N V, Limborskaya, S A, Ivanova-Smolenskaya, I A

“…Spinocerebellar ataxia type 1 (SCA1) is one form of autosomal dominant cerebellar ataxia (ADCA) caused by trinucleotide (CAG) repeat expansion within a mutant…”
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A clinical case of adult onset Niemann–Pick disease type C by E. V. Saifullina, R. V. Magzhanov, A. K. Mardanova, T. Yu. Proshlyakova, E. Yu. Zakharova, S. A. Klyushnikov, S. N. Illarioshkin

“…The paper presents a brief review of an update of the etiology and pathogenesis of Niemann–Pick disease type C (NPC), a rare neurovisceral lysosomal storage…”
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A platform for studies of Huntington’s disease on the basis of induced pluripotent stem cells by E. D. Nekrasov, O. S. Lebedeva, E. M. Vasina, A. N. Bogomazova, I. V. Chestkov, S. L. Kiselev, M. A. Lagarkova, S. A. Klyushnikov, S. N. Illarioshkin, I. A. Grivennikov

“…Huntingtons disease (HD) is one of the most severe hereditaryneurodegenerative disorders caused by CAG repeats expansionin the HTT gene. A recently elaborated…”
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Sakharnyy diabet pri ataksii Fridreykha by Shcheglova, O S, Rudenskaya, G E, Kuraeva, Tamara Leonidovna, Klyushnikov, S A

“…Сочетание сахарного диабета (СД) с различными наследственными заболеваниями и синдромами считается одним из доказательств его генетической гетерогенности. В…”
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Mental disorders in Huntington’s disease by Klyushnikov, Sergei Anatolyevich, Yudina, E N, Illarioshkin, S N, Ivanova-Smolenskaya, I A

“…untington’s disease (HD) is one of the most severe and fatal hereditary diseases of the nervous system. The paper outlines the history of studies of the…”
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The role of apolipoprotein E in patients with amyotrophic lateral sclerosis (a clinical and genetic study) by Kutakova, E V, Zakharova, M N, Illarioshkin, S N, Kliushnikov, S A, Zavalishin, I A, Ivanova-Smolenskaia, I A

“…The apolipoprotein E (apoE) gene plays an important role in forming predisposition and modulating the course of Alzheimer's disease, primary parkinsonism and…”
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