Zobrazeno 1 - 10
of 34
pro vyhledávání: '"A. F. Murtazina"'
Autor:
S. N. Bardakov, A. М. Emelin, S. S. Nikitin, A. N. Khelkovskaya-Sergeeva, I. S. Limaev, A. F. Murtazina, V. A. Tsargush, M. V. Gusev, Ya. V. Safronova, V. S. Kaimonov, A. A. Isaev, R. V. Deev
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 73-87 (2022)
Differential diagnosis of inflammatory myopathies with hereditary muscular dystrophies accompanied by a secondary inflammatory process is a time‑consuming clinical and pathomorphological task. In particular, false diagnosis of polymyositis in patie
Externí odkaz:
https://doaj.org/article/b2e69f02488b40eaa34fb3cd3cd8b162
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 2, Pp 28-36 (2022)
This study presents the structure and population data of spinal muscular atrophy 5q in the Republic of North Ossetia – Alania. The number of newborns for the period 2000–2020 was 195 954, and the prevalence of spinal muscular atrophy 5q among new
Externí odkaz:
https://doaj.org/article/e357e303fc41434c8575f29408ee80be
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 4, Pp 48-54 (2021)
Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition. One of the most common autosomal recessive HL is HL type 7 caused by mutations in the POLR3A
Externí odkaz:
https://doaj.org/article/364f3ca250c4411fb04a3e143f73d2df
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 1, Pp 25-38 (2021)
Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal d
Externí odkaz:
https://doaj.org/article/9be308800d7547d8b394a7291abae5cf
Autor:
A. F. Murtazina, O. A. Shchagina, T. B. Milovidova, E. L. Dadali, G. E. Rudenskaya, S. A. Kurbatov, T. V. Fedotova, S. S. Nikitin, P. A. Sparber, M. D. Orlova, A. V. Polyakov
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 2, Pp 39-45 (2020)
Introduction. Charcot–Marie–Tooth disease type 4D is a hereditary demyelinating neuropathy, that occurs with the high frequency in patients of Roma origin. It is characterized by early onset at the age of 2–10 years and hearing impairment, mani
Externí odkaz:
https://doaj.org/article/f0577b02099e4f6d8c46c8a3b3e02aca
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:
Нервно-мышечные болезни, Vol 9, Iss 1, Pp 12-23 (2019)
Evaluation and interpretation of electrophysiological phenomena often plays an important role in the diagnosis of neuromuscular diseases. Motor nerve conduction block is a reduction of either amplitude or area of the compound motor action potential e
Externí odkaz:
https://doaj.org/article/771aff1d1e5946e6bcd473edd32c5074
Autor:
S. A. Kurbatov, T. B. Milovidova, V. P. Fedotov, A. F. Murtazina, G. E. Rudenskaya, O. A. Shchagina, A. V. Polyakov
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 2, Pp 75-83 (2018)
Background. Hereditary motor and sensory neuropathies (HMSN) are a genetically diverse group of disorders of the peripheral nerves characterized by gradual development of weakness, muscular hypo-/atrophy, sensory disturbances in distal areas of the e
Externí odkaz:
https://doaj.org/article/96b1961b116a487cb60b2bbda418640b
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 4, Pp 10-19 (2018)
Since the term “thoracic outlet syndrome” (TOS) has been introduced, there have been disputes about the accuracy of the diagnosis, definition, diagnostic workup and treatment of this condition. Existing clinical variants include involvement of bl
Externí odkaz:
https://doaj.org/article/e202b5e527e841f89d07239060da08aa
Autor:
E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 3, Pp 47-55 (2017)
Introduction. Hereditary motor and sensory neuropathies are genetically heterogeneous group of disorders characterized by a progressive muscle weakness, atrophy of hand and leg muscles often associated with deformations, and mild to moderate sensory
Externí odkaz:
https://doaj.org/article/b27ffc0c525e43ec8645e495ae9e4dda