Zobrazeno 1 - 10
of 767
pro vyhledávání: '"Sharkova, A."'
Autor:
Sergey Nikitin, Evgeniya Melnik, Inna Sharkova, Aysylu Murtazina, Olga Shchagina, Victoriia Zabnenkova, Vadim Tsargush, Elena Dadali, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to bialle
Externí odkaz:
https://doaj.org/article/82f27920e9a64bbabb574a97777b72d6
Autor:
E. L. Dadali, T. V. Markova, E. A. Melnik, S. S. Nikitin, I. V. Sharkova, O. V. Khalanskaya, L. A. Bessonov, E. A. Shestopalova, O. P. Ryzhkova, S. I. Trofimova, O. E. Agranovich, S. I. Kutsev
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
Pathogenic heterozygous variants in the PIEZO2 gene cause distal arthrogryposis type 5 – a rare autosomal dominant disease, which is characterized by the development of congenital contractures, ophthalmoparesis, ptosis and restrictive respiratory d
Externí odkaz:
https://doaj.org/article/38ae51ab9cb549f18d5c8a123744b86d
Publikováno v:
Juridical Tribune, Vol 13, Iss 4, Pp 565-574 (2023)
The term ‘correlation’ can be interpretated in a wider meaning than the presence of a frequency of connection between two collignial indicators. This semantic content as "a relation existing between phenomena" is present in the discourse of liber
Externí odkaz:
https://doaj.org/article/ec50856a8f754fbcba5f300ac21064ba
Autor:
I. V. Sharkova, S. S. Nikitin, T. V. Markova, A. E. Voskanyan, E. A. Melnik, O. A. Shchagina, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 3, Pp 64-70 (2023)
Distal arthrogryposis is a group of genetically heterogeneous congenital diseases characterized by non-progressive contractures predominantly distal joints of the upper and lower extremities. 11 genes have been identified as pathogenic variants causi
Externí odkaz:
https://doaj.org/article/8a8f166572c14459a1092ae061e23c9d
Autor:
Aysylu Murtazina, Artem Borovikov, Andrey Marakhonov, Artem Sharkov, Inna Sharkova, Alena Mirzoyan, Sviatlana Kulikova, Ralina Ganieva, Viktoriia Zabnenkova, Oksana Ryzhkova, Sergey Nikitin, Elena Dadali, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the CHAT gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with musc
Externí odkaz:
https://doaj.org/article/9a7624574df34854837d3f4281fc3dae
Akademický článek
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Akademický článek
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Autor:
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
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 2, Pp 42-55 (2023)
TRPV4‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are distinguished. There are Charcot–Marie–Tooth disease type 2C, distal hereditary motor neuropathy t
Externí odkaz:
https://doaj.org/article/47a4aae3e5d74c7d8cbc451951a1d757
Autor:
Sharkova, Irina
Publikováno v:
Математика плюс / Mathematics Plus. 31(1):17-20
Externí odkaz:
https://www.ceeol.com/search/article-detail?id=1107937
Autor:
Maria Sharkova, Magela Rodao, Constantin Mouzaaber, Gonzalo Aparicio, Flavio Zolessi, Jennifer Hocking
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S22- (2023)
Externí odkaz:
https://doaj.org/article/bb9ebf396e21419abef5120fda98c865