Zobrazeno 1 - 10
of 33
pro vyhledávání: '"A. F . Murtazina"'
Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene
Autor:
T. V. Markova, E. L. Dadali, S. S. Nikitin, A. F . Murtazina, O. L. Mironovich, I. V. Kanivets
Publikováno v:
Нервно-мышечные болезни, Vol 11, Iss 2, Pp 48-55 (2021)
Mutations in the PIEZO2 gene, which is involved in the formation of the mechanosensitive cation channel Piezo2, can cause distal arthrogryposis type 3 (Gordon’s syndrome), type 5, and Marden–Walker syndrome. Clinical and genetic characteristics o
Externí odkaz:
https://doaj.org/article/7b02dadbbcc84e028d1b72a97d5240b0
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:
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
Autor:
Aysylu F. Murtazina, Olga A. Shchagina, Sergey S. Nikitin, Elena L. Dadali, Alexander V. Polyakov
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 13, Iss 1, Pp 55-69 (2019)
Inherited peripheral neuropathies (IPNs) are a heterogeneous group of hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies, and hereditary sensory neuropathies. IPNs can be inherited in autosomal dominant, autosomal recessi
Externí odkaz:
https://doaj.org/article/8fe8c1dac0da48f595d086947fab1394
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 11, Iss 2, Pp 55-65 (2017)
Various neurological diseases involving motor neurons or their axons lead to decrease in the number of functioning motor units (MU). Counting the number of intact MUs plays significant role in assessing the progression of the pathological process ass
Externí odkaz:
https://doaj.org/article/57881a67d7ff445ca46b94bde4ba0070
Publikováno v:
Neuromuscular Diseases. 12:28-36
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://explore.openaire.eu/search/publication?articleId=doi_________::c0394e395328fbec700ec64e9bf95814
https://doi.org/10.17650/2222-8721-2022-12-2-28-36
https://doi.org/10.17650/2222-8721-2022-12-2-28-36
Autor:
Tatyana V. Markova, Evgenii V. Melchenko, Vladimir Kenis, Aysylu F. Murtazina, Elena L. Dadali, Tatyana S. Nagornova
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 9:327-337
BACKGROUND: Geleophysic dysplasia and acromicric dysplasia are rare hereditary diseases characterized by dwarfism and dysplastic skeletal features. In the literature, only a few cases of geleophysic dysplasia and acromicric dysplasia caused by mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e3bd5ec1ac320738b7d0456b480e20ed
https://doi.org/10.17816/ptors65367
https://doi.org/10.17816/ptors65367
Publikováno v:
Nervno-Myšečnye Bolezni, 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://explore.openaire.eu/search/publication?articleId=doajarticles::d74e65ee1fe6ddb22b2c1ac281a42892
https://nmb.abvpress.ru/jour/article/view/424
https://nmb.abvpress.ru/jour/article/view/424
Publikováno v:
Nervno-Myšečnye Bolezni, 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://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f2d28397c373280c2773532604d36df
https://doi.org/10.17650/2222-8721-2021-11-4-48-54
https://doi.org/10.17650/2222-8721-2021-11-4-48-54
Autor:
Aysylu F. Murtazina, S. S. Nikitin, Peter Sparber, S. A. Kurbatov, A. V. Polyakov, M. D. Orlova, G. E. Rudenskaya, T. B. Milovidova, Elena L. Dadali, T. V. Fedotova, O. A. Shchagina
Publikováno v:
Nervno-Myšečnye Bolezni, 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://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7e7c8ca36bdc603f1e9feabacf68c02
https://nmb.abvpress.ru/jour/article/view/385
https://nmb.abvpress.ru/jour/article/view/385