Zobrazeno 1 - 10
of 16
pro vyhledávání: '"V. A. Kadnikova"'
Autor:
G. E. Rudenskaya, V. A. Kadnikova, O. P. Ryzhkova, L. A. Bessonova, E. L. Dadali, D. S. Guseva, T. V. Markova, D. N. Khmelkova, A. V. Polyakov
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-14 (2020)
Abstract 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 seque
Externí odkaz:
https://doaj.org/article/7e59f0dee73549889e88ab69b144c29c
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:
I. M. Khidiyatova, E. V. Saifullina, A. S. Karunas, A. F. Akhmetgaleyeva, R. F. Kutlubaeva, L. A. Smakova, S. L. Lobov, A. V. Polyakov, O. A. Shchagina, V. A. Kadnikova, O. P. Ryzhkova, R. V. Magzhanov, E. K. Khusnutdinova
Publikováno v:
Russian Journal of Genetics. 58:1145-1153
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
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,
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
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
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
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
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