Zobrazeno 1 - 8
of 8
pro vyhledávání: '"E. P. Nuzhny"'
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 14, Iss 6, Pp 63-66 (2022)
The article presents a description of the family case of rare hereditary prion disease – Gerstmann–Sträussler–Scheinker syndrome with a verified p.P102L mutation in the PRNP gene. The clinical picture was represented by progressive cerebellar
Externí odkaz:
https://doaj.org/article/36a9b0649a9e4a4e8eb680dda1058c15
Publikováno v:
Нервно-мышечные болезни, Vol 12, Iss 3, Pp 45-51 (2022)
Spinocerebellar ataxia type 14 (SCA14) is a rare neurodegenerative disease with a predominant cerebellar affection and autosomal dominant inheritance. A characteristic clinical presentation is slowly progressive cerebellar ataxia, hyperreflexia, cogn
Externí odkaz:
https://doaj.org/article/aeb8e55dec9e4cb79b91d91dac1baf25
Autor:
N. Yu. Abramycheva, N. S. Nikolaeva, Sergei N. Illarioshkin, E. P. Nuzhny, M. V. Ershova, S. A. Klyushnikov, E. Yu. Fedotova
Publikováno v:
Neuroscience and Behavioral Physiology. 50:1000-1004
Objectives. To study the methylation profile of the FXN gene and its influence on the formation of the clinical presentation of Friedreich’s disease (FD). Materials and methods. The promoter area and intron 1 of the FXN gene up to the GAA expansion
Autor:
M. V. Ershova, E. Yu. Fedotova, N. Yu. Abramycheva, Sergey N. Illarioshkin, E. P. Nuzhny, S. A. Klyushnikov
Publikováno v:
IMMUNO-ONCOLOGY. :39-44
Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia associated with the non-coding GAA tandem repeats expansion in the FXN gene. Transcription impairment and frataxin protein deficiency are the key features of the disease pathogene
Autor:
M. V. Ershova, N. Yu. Abramycheva, Sergei N. Illarioshkin, N. S. Nikolaeva, S. A. Klyushnikov, E. P. Nuzhny, E. Yu. Fedotova
Publikováno v:
Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova. 120:20
To study a methylation profile of FXN gene and its influence on the clinical phenotype of Friedreich's desease (FD).The methylation pattern was analyzed in 17 patients with FD. Forty-five CpG-sites in the promoter region and the region of intron 1 of
Autor:
P. A. Fedin, E. P. Nuzhnyi, T. Yu. Noskova, Yu. A. Seliverstov, S. A. Klyushnikov, T. D. Krylova, P. G. Tsygankova, E. Yu. Zakharova, S. N. Illarioshkin
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 12, Iss 4, Pp 205-215 (2021)
Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain electrical activity features of POLG-related disorders in adult patients have not been adequately s
Externí odkaz:
https://doaj.org/article/4301f83c628f4f6d94de784af98ba08f
Autor:
E. P. Nuzhnyi, S. N. Illarioshkin
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 3, Pp 27-34 (2020)
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a relatively poorly understood autosomal recessive neurodegenerative disease. The molecular basis of CANVAS was discovered only in 2019 and it is associated with the biallelic p
Externí odkaz:
https://doaj.org/article/deeb704420ec471c97fb3853744307f3
Autor:
E. P. Nuzhnyi, M. Yu. Krasnov, D. R. Akhmadullina, A. A. Abramova, E. Yu. Fedotova, S. N. Illarioshkin
Publikováno v:
Неврология, нейропсихиатрия, психосоматика, Vol 12, Iss 5, Pp 66-70 (2020)
Anti-glutamic acid decarboxylase (GAD) antibody-associated ataxia is a rarely diagnosed but potentially curable disease associated with autoimmune damage to and death of Purkinje cells in the cerebellar cortex. In Russia, the authors have provided fo
Externí odkaz:
https://doaj.org/article/d4fc00214f164fa895dfc4c649a5d1f8