Zobrazeno 1 - 10
of 39
pro vyhledávání: '"S A Klyushnikov"'
Publikováno v:
Сахарный диабет, Vol 3, Iss 4, Pp 51-54 (2000)
Сочетание сахарного диабета (СД) с различными наследственными заболеваниями и синдромами считается одним из доказательств его генетич
Externí odkaz:
https://doaj.org/article/218527b55b2644718007701c1f1234c4
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 3, Pp 45-51 (2022)
Spinocerebellar ataxia type 14 (SCA14) is a rare neurodegenerative disease with a predominant cerebellar affection and autosomal dominant inheritance. A characteristic clinical presentation is slowly progressive cerebellar ataxia, hyperreflexia, cogn
Externí odkaz:
https://doaj.org/article/aeb8e55dec9e4cb79b91d91dac1baf25
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 7, Iss 4, Pp 16-19 (2017)
One of the most important inherited neurodegenerative disorders,Huntingtons disease (HD), is characterized by cerebral atrophy,the features of which need to be clarified. MRI morphometryallows assessing quantitatively the atrophy of different brainre
Externí odkaz:
https://doaj.org/article/6842987c8f5541758eb156ac4b012eb8
Autor:
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
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 6, Iss 4, Pp 30-35 (2017)
Huntingtons disease (HD) is one of the most severe hereditaryneurodegenerative disorders caused by CAG repeats expansionin the HTT gene. A recently elaborated technology of geneticreprogramming allows obtaining induced pluripotent stem(iPS) cells fro
Externí odkaz:
https://doaj.org/article/7b751fe0d04346018f1d9deb3d96b4b6
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 4, Pp 8-15 (2021)
Hereditary neurological diseases represent a substantial part of human monogenic disorders. Most of them are progressive, disabling,and lacking disease-modifying therapy. Early diagnosis of severe genetic neurological conditions is essentialfor prima
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c9425ccd1e227663712c5c9a41b8cba
https://www.ped-perinatology.ru/jour/article/view/1438
https://www.ped-perinatology.ru/jour/article/view/1438
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 13, Iss 1S, Pp 24-29 (2021)
Multiple aspects covering multiannual close cooperation between Dr. V.A. Karlov and prominent scientists from the Research Center of Neurology have been illuminated in the report. It was shown how an extended study was performed at the joint between
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb018475891489a053d88e7d11257271
https://www.epilepsia.su/jour/article/view/676
https://www.epilepsia.su/jour/article/view/676
Autor:
S. A. Klyushnikov, V. A. Shishkinskaya, V. S. Osipchik, T. P. Kravchenko, O. I. Kladovshchikova, A. N. Pachina
Publikováno v:
Polymer Science, Series D. 15:87-89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::017068f4c2c2384761c79e8c62992062
https://doi.org/10.1134/s1995421222010117
https://doi.org/10.1134/s1995421222010117
Autor:
Amayak Broutian, S. A. Klyushnikov, Alexandra Belyakova-Bodina, E. P. Nuzhnyi, Yury Seliverstov, Mikhail Ratanov, Erich Schneider
Publikováno v:
Journal of Neurology. 268:3909-3912
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fe4332df4513f31ad51ecee305da28b
https://doi.org/10.1007/s00415-021-10650-2
https://doi.org/10.1007/s00415-021-10650-2
Autor:
Vyacheslav Tabakov, S. A. Klyushnikov, Maria Karpova, Grigory Perelman, Alexandra Filatova, Ekaterina Zakharova, Igor Bychkov, Mikhail Skoblov, Alexandra Ilyushkina, Tatiana Yu. Proshlyakova, Daria Korotkova, Galina Baydakova
Publikováno v:
Eur J Hum Genet
Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age of onset. We studied the imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e93d5d7856ea13f4bfc3211a20f6e4
https://doi.org/10.1038/s41431-021-00898-7
https://doi.org/10.1038/s41431-021-00898-7
Autor:
Polina G. Tsygankova, P. A. Fedin, Sergei N. Illarioshkin, T. Yu. Noskova, Tatiana D. Krylova, E. Yu. Zakharova, S. A. Klyushnikov, Yu. A. Seliverstov, E. P. Nuzhnyi
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 12, Iss 4, Pp 205-215 (2021)
Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain electrical activity features of POLG-related disorders in adult patients have not been adequately s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba01e6e98435001bddd0de148243a2b
https://www.epilepsia.su/jour/article/view/622
https://www.epilepsia.su/jour/article/view/622