Zobrazeno 1 - 10
of 33
pro vyhledávání: '"I. V. Sharkova"'
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
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:
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:
I. V. Sharkova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 13, Iss 1, Pp 44-51 (2023)
Background. Progressive muscular dystrophies (PMD) are a group of genetically heterogeneous diseases that manifest in the age range from early childhood to adulthood. Depending on the predominant topography of the muscular lesion, there are: limb-gir
Externí odkaz:
https://doaj.org/article/5f41795a4ffb483288d17caf9b98847f
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 3, Pp 37-44 (2021)
Background. The variety of phenotypic manifestations of spinal muscular atrophy 5q (5qCMA) is the reason for the difficulty in diagnosing and delaying the diagnosis, which is of particular importance today due to the emergence of new etiopathogenetic
Externí odkaz:
https://doaj.org/article/4e9fcc84d7bc4791b08802fdb4c6a658
Autor:
E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 3, Pp 56-66 (2019)
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys20
Externí odkaz:
https://doaj.org/article/7ad99b2c7a094c959bb1285c35eed853
Publikováno v:
Русский журнал детской неврологии, Vol 14, Iss 1, Pp 49-53 (2019)
Gillespie syndrome is one of the rare monogenic syndromes characterized by a combination of congenital muscular hypotonia, delayed psychomotor and speech development, ataxia and hypoplasia of the iris. The cause of disease – homozygous, compound he
Externí odkaz:
https://doaj.org/article/5b3415033f114fb6abaf26405d530235
Autor:
A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 1, Pp 83-91 (2019)
A description of the clinical and genetic characteristics of the syndrome of congenital contractures of the limbs and face in combination with muscular hypotonia and psychomotor retardation of 2 patients from Russia is presented. As a result of full-
Externí odkaz:
https://doaj.org/article/18521ae1a47b4ad0977bbb8454c209fc
Autor:
O. V. Khlebnikova, I. V. Sharkova
Publikováno v:
Российский офтальмологический журнал, Vol 12, Iss 1, Pp 97-101 (2019)
Purpose: to present a clinical case of retinal abiotrophy in mitochondrial pathology (NARP syndrome) caused by the mutation m.8993T>G in the ATPase gene type 6 in order to improve the diagnosis of hereditary abiotrophies. Material and methods. The re
Externí odkaz:
https://doaj.org/article/de5a464a6b5d4eb1825e06660a6b7015
Autor:
I. V. Sharkova, E. L. Dadali
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 1, Pp 34-37 (2018)
Clinical and genetic characteristics of a patient with Lamb–Shaffer syndrome due to the newly discovered heterozygous missense mutation p.1868A>C in the 14 exon of the SOX5 gene are presented in the next generation sequencing of exom. It is shown t
Externí odkaz:
https://doaj.org/article/38bb959f5b86409da669bcb3214a7316