Zobrazeno 1 - 10
of 69
pro vyhledávání: '"S A, Kurbatov"'
Autor:
E. K. Erokhina, K. V. Shamtieva, E. A. Melnik, D. O. Kazakov, S. A. Kurbatov, E. P. Pavlikova, O. A. Tikhonova, E. A. Mershina, V. E. Sinitsyn, D. V. Vlodavets
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
Background. Myotonic dystrophy type 1 (DM1) is a hereditary slowly progressive multisystem disease with an autosomal dominant mode of inheritance, caused by the expansion of trinucleotide (CTG)n repeats in the 3’ untranslated region of the DMPK gen
Externí odkaz:
https://doaj.org/article/002ad306ab4241e18b1f04d4f7cc328f
Autor:
S. N. Bardakov, I. S. Limaev, A. M. Emelin, V. Nikitins, E. V. Presnyakov, S. A. Kurbatov, P. G. Tsygankova, V. A. Tsargush, I. A. Chekmareva, E. V. Kolmakova, N. V. Bakulina, R. V. Deev
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 56-72 (2022)
Mitochondrial neurogastrointestinal encephalomyopathy is an extremely rare (1–9:1 000 000, Orphanet, 2021) multisystem genetic disease caused by mutations in the TYMP gene encoding the enzyme thymidine phosphorylase.The article presents the data of
Externí odkaz:
https://doaj.org/article/18016ff039554d8791c0c23664fce85c
Autor:
S. A. Kurbatov, V. M. Kenis, M. V. Savina, I. S. Kleimenova, N. S. Priymak, Yu. V. Kryukov, A. A. Kokorina, N. V. Ryadninskaya, I. A. Kuznetsova, O. A. Shchagina, A. V. Poliakov
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 2, Pp 47-63 (2022)
Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation of muscle” is the leading symptom in DM1 and can occur at any time after onset disease. Myotonia symptoms and
Externí odkaz:
https://doaj.org/article/ffff0a550e5f4992979dd129d9b79133
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:
S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 3, Pp 67-76 (2019)
Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology. Early childhood
Externí odkaz:
https://doaj.org/article/c8547eadb9714b9699ee0f447599cffd
Autor:
N. L. Sheremet, I. G. Grushke, N. V. Zhorzholadze, I. A. Ronzina, A. A. Mikaelyan, S. A. Kurbatov, V. V. Kadyshev, K. I. Anoshkin, V. V. Strelnikov
Publikováno v:
Сибирский научный медицинский журнал, Vol 38, Iss 5, Pp 65-71 (2019)
Purpose of the study was to assess the spectrum of molecular genetic disorders and the variety of clinical forms in patients with Stargardt disease. Material and methods. 56 patients aged 15-44 years who had been diagnosed with Stargardt disease in a
Externí odkaz:
https://doaj.org/article/dd9051f9de144ecca4e63b03284bd4cb
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
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
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 9, Iss 2, Pp 47-52 (2017)
Myotonic dystrophy type 1 (DM1) is an autosomal dominantdisease associated with the expansion of trinucleotide CTG repeatsin the dystrophia myotonica protein kinase (DMPK) gene.DM1 is clinically manifested by a combination of myotonia,progressive atr
Externí odkaz:
https://doaj.org/article/d4f3e3b99c5a4be5bde50bc3b578b736
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 4, Iss 2, Pp 52-58 (2017)
Juvenile Huntingtons disease (JHD) manifests in 1st2nddecades of life and accounts for 29% of all cases ofHuntingtons disease; its pathogenic mechanisms are related togenetic anticipation and imprinting. Typical features of JHDare akinesia and rigidi
Externí odkaz:
https://doaj.org/article/4a21bc1822514c32bac9f9850226f22d