Zobrazeno 1 - 10
of 113
pro vyhledávání: '"S N, Illarioshkin"'
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:
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
Publikováno v:
Rossijskij Vestnik Perinatologii i Pediatrii, Vol 66, Iss 4, Pp 8-15 (2021)
Hereditary neurological diseases represent a substantial part of human monogenic disorders. Most of them are progressive, disabling,and lacking disease-modifying therapy. Early diagnosis of severe genetic neurological conditions is essentialfor prima
Externí odkaz:
https://doaj.org/article/ac751eb01f0e445bb69cf8d017727ffc
Publikováno v:
Эпилепсия и пароксизмальные состояния, Vol 13, Iss 1S, Pp 24-29 (2021)
Multiple aspects covering multiannual close cooperation between Dr. V.A. Karlov and prominent scientists from the Research Center of Neurology have been illuminated in the report. It was shown how an extended study was performed at the joint between
Externí odkaz:
https://doaj.org/article/81c27e3b949143fc973c9dde8337b9c6
Autor:
E. I. Fomicheva, R. P. Myasnikov, Y. A. Selivyorstov, S. N. Illarioshkin, E. L. Dadali, O. M. Drapkina
Publikováno v:
Рациональная фармакотерапия в кардиологии, Vol 17, Iss 1, Pp 105-110 (2021)
Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia, dysa
Externí odkaz:
https://doaj.org/article/ef4d44f17b8f4eb081d4bec169ed0c6f
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:
А. V. Stavrovskaya, D. N. Voronkov, E. A. Artyomova, B. V. Belugin, М. М. Shmarov, N. G. Yamshchikova, А. S. Gushchina, А. S. Olshansky, B. S. Naroditskiy, S. N. Illarioshkin
Publikováno v:
Нервно-мышечные болезни, Vol 10, Iss 3, Pp 63-73 (2020)
Introduction. Over the past several decades, the study of mutations associated with motor neuron disease has led to the development of a number of transgenic animal models of motor neuron disease. One of the causes of the familial form of this disord
Externí odkaz:
https://doaj.org/article/655b814d1d144d0da7b8caec46089655
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