Zobrazeno 1 - 10
of 14
pro vyhledávání: '"V A Kadnikova"'
Publikováno v:
Научно-практическая ревматология, Vol 50, Iss 4, Pp 40-43 (2012)
Objective: to estimate the significance of SAA1 gene polymorphism in the development of AA amyloidosis in patients with rheumatoid arthritis (RA) in the Moscow population. Subjects and methods. The investigation included 57 RA patients treated at the
Externí odkaz:
https://doaj.org/article/bb5f3e621034432fa692b640313e83ba
Publikováno v:
Анналы клинической и экспериментальной неврологии, Vol 7, Iss 2, Pp 51-54 (2017)
Description of clinical features of the disease in a 4-year-old boywith rigid spine syndrome is presented. Molecular genetic analysisrevealed in this patient an unknown homozygous mutation988delC in the SEPN1 gene (coding for selenoprotein N). Incont
Externí odkaz:
https://doaj.org/article/bd8b30a51e5a422291565599fa8e7c18
Autor:
V A Kadnikova, O.L. Mironovich, O. P. Ryzhkova, F. A. Konovalov, L. A. Bessonova, S. A. Kurbatov, G. E. Rudenskaya, Peter Sparber
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 121(5)
Objective To estimate the proportion and spectrum of infrequent autosomal dominant spastic paraplegias in a group of families with DNA-confirmed diagnosis and to investigate their molecular and clinical characteristics. Material and methods Ten famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05e2d09071287ae7eea90187f5f498e8
https://pubmed.ncbi.nlm.nih.gov/34184482
https://pubmed.ncbi.nlm.nih.gov/34184482
Publikováno v:
Biology Bulletin Reviews. 9:145-156
—Hereditary spastic paraplegia (HSP) is a heterogeneous group of neurodegenerative disorders predominantly characterized by damage to the pyramidal tract. The major, single symptom of HSP is progressive weakness and spasticity of lower extremities,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b74a67aa642ff444a73e6101358ed3dd
https://doi.org/10.1134/s2079086419020063
https://doi.org/10.1134/s2079086419020063
Autor:
G. E. Rudenskaya, O.G. Novoselova, O.L. Mironovich, D.M. Guseva, I.F. Komar’kov, O. P. Ryzhkova, V A Kadnikova, Elena L. Dadali
Publikováno v:
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 121(2)
OBJECTIVE In the course of studies of spastic paraplegias in Russian patients to detect AP4-associated forms, estimate their proportion in the total SPG group and analyze clinical and molecular characteristics. MATERIAL AND METHODS Five families of R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bce1b84a6a66583689b16076e31efb8f
https://pubmed.ncbi.nlm.nih.gov/33728854
https://pubmed.ncbi.nlm.nih.gov/33728854
Autor:
Elena L. Dadali, T. V. Markova, V. A. Kadnikova, A. V. Polyakov, G. E. Rudenskaya, D. N. Khmelkova, D. S. Guseva, L. A. Bessonova, O. P. Ryzhkova
Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-14 (2020)
BMC Neurology, Vol 20, Iss 1, Pp 1-14 (2020)
Background Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5997c481ecc6061f48a1c519e1b357ad
https://doi.org/10.1186/s12883-020-01872-4
https://doi.org/10.1186/s12883-020-01872-4
Publikováno v:
Human Physiology. 42:850-853
Description of clinical features of the disease in a four-year-old boy with rigid spine syndrome is presented. Molecular genetic analysis revealed an unknown homozygous mutation 988delC in SEPN1 gene (coding for selenoprotein N) in this patient. In c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc0c89d44ec6d7f618afaad62ab00824
https://doi.org/10.1134/s0362119716080041
https://doi.org/10.1134/s0362119716080041
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)
Hereditary spastic paraplegia (HSP) comprises a heterogeneous group of neurodegenerative disorders, it share common symptom - of progressive lower spastic paraparesis. The most common autosomal dominant (AD) forms of HSP are SPG4 (SPAST gene) and SPG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1564668369e5d95be1a239c822b6b5c
http://europepmc.org/articles/PMC6783457
http://europepmc.org/articles/PMC6783457
Autor:
A. V. Polyakov, V. A. Kadnikova, O. P. Ryzhkova, O. A. Shchagina, I. A. Akimova, A. L. Chukhrova
Publikováno v:
European Journal of Neurology. 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f923922efd1b540f4d49b456cb8b5a0
https://doi.org/10.1111/ene.13880
https://doi.org/10.1111/ene.13880
Publikováno v:
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 120:85
Spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare autosomal recessive neurodegenerative disease related to SACS gene and characterized by cerebellar, pyramidal and some other signs. The disease was delineated in Quebec, where it cumulates due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c0655187e5599625acb5e8236d2c590
https://doi.org/10.17116/jnevro202012002185
https://doi.org/10.17116/jnevro202012002185