Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Yu A Shpilyukova"'
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 15, Iss 6, Pp 101-108 (2023)
Polycythemia vera (PV) is a clonal myeloproliferative disorder that is often associated with neurological symptoms. Rare manifestations of PV may include movement disorders (mainly chorea) and cognitive impairment (CI), which are fully or partially r
Externí odkaz:
https://doaj.org/article/90a3310bd711420ea24893e738e6875e
Autor:
Yu. A. Shpilyukova, A. O. Protopopova, N. Yu. Abramycheva, E. Yu. Fedotova, S. N. Illarioshkin
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 15, Iss 2, Pp 63-67 (2023)
Rapidly progressive dementias are a rare group of cognitive disorders that primarily require the exclusion of a large number of potentially reversible causes. Prion diseases are frequent in this group of disorders. Some hereditary forms of Alzheimer'
Externí odkaz:
https://doaj.org/article/9bea524e01934c9690747350b90495e2
Autor:
Yu. A. Shpilyukova, S. N. Illarioshkin
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 4, Pp 37-45 (2022)
Background. Spinal muscular atrophy (SMA) associated with chromosome 5q is an autosomal recessive neuromuscular disease caused by a mutation in the SMN1 gene. Adult forms of SMA are relatively rarer and associated with significant diagnostic difficul
Externí odkaz:
https://doaj.org/article/5e29129b8336446c8f26630c248a4d34
Publikováno v:
Медицинский совет, Vol 0, Iss 19, Pp 42-50 (2020)
Frontotemporal degeneration (FTD) is a heterogeneous group of diseases causing neurodegeneration on the frontal and/or anterior temporal lobes. FTD is the second most common dementia in presenile age (up to 65 years) after Alzheimer’s disease. Usua
Externí odkaz:
https://doaj.org/article/b1b7479497d74d518311aa99f3184845
Autor:
Yu. A. Shpilyukova, E. Yu. Fedotova, T. V. Pogoda, N. Yu. Abramycheva, A. S. Vetchinova, M. N. Zakharova, S. N. Illarioshkin
Publikováno v:
Нервно-мышечные болезни, Vol 8, Iss 2, Pp 33-41 (2018)
Background. Hexanucleotide repeat expansion in the C9orf72 gene is the most significant cause of a large number of neurodegenerative diseases: frontotemporal degeneration (FTD), amyotrophic lateral sclerosis (ALS), Parkinson’s disease (PD), etc. Se
Externí odkaz:
https://doaj.org/article/fcec782708154077a2d6f1746820167a
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 4, Pp 50-55 (2018)
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive loss of central and peripheric motor neurons, with genetic factors playing significant role in its development. In this article, we discuss in detai
Externí odkaz:
https://doaj.org/article/e2c01c4d4ac04cd79fc378c2a3bc82d7
Publikováno v:
Human Physiology. 48:912-918
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5e0b61be35819fbc1fbb7bbf032b201
https://doi.org/10.1134/s0362119722080126
https://doi.org/10.1134/s0362119722080126
Autor:
M. Yu. Krasnov, S. L. Timerbaeva, N. Yu. Abramycheva, M. S. Stepanova, Yu. A. Shpilyukova, M. V. Ershova
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 10, Iss 2, Pp 52-56 (2017)
DYT6 is a recently described autosomal dominant form of primarydystonia with early onset of symptoms caused by mutationsin THAP1 gene in chromosome 8. The incidence of this formin various populations is extremely variable and ranges from 1%to 25%. Kn
Externí odkaz:
https://doaj.org/article/ce4bef34a2e94799b55f130e87f35e9d
Autor:
N. Yu. Abramycheva, E. V. Lysogorskaya, Yu. S. Shpilyukova, A. S. Vetchinova, M. N. Zakharova, S. N. Illarioshkin
Publikováno v:
Нервно-мышечные болезни, Vol 6, Iss 4, Pp 21-27 (2017)
Materials and methods. 285 Russian patients with amyotrophic lateral sclerosis (ALS) including 260 patients with a sporadic form and 25 with a familial form were examined for mutations in SOD1, C9orf72, TARDBP, ANG and other genes and the presence of
Externí odkaz:
https://doaj.org/article/bea568ff397243559b6cb15536752cc3
Publikováno v:
Russian neurological journal. 27:5-13
In the light of the development of molecular biology and pathomorphology, ideas about degenerative diseases of the nervous system are gradually changing. A clear evidence of this is the description in recent years of new forms of neurodegenerative pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87d73bb926cd6fc24229f0f6fa382bbe
https://doi.org/10.30629/2658-7947-2022-27-2-5-13
https://doi.org/10.30629/2658-7947-2022-27-2-5-13