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Page 1
[Diagnostic algorithm for autosomal recessive ataxia].
Nuzhnyi EP, Abramycheva NY, Klyushnikov SA, Seliverstov YA, Vetchinova AS, Pogoda TV, Ershova MV, Fedotova EY, Illarioshkin SN. Nuzhnyi EP, et al. Among authors: illarioshkin sn. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(9):74-82. doi: 10.17116/jnevro201911909174. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 31626222 Russian.
Spinocerebellar ataxia type 1 in Russia.
Illarioshkin SN, Slominsky PA, Ovchinnikov IV, Markova ED, Miklina NI, Klyushnikov SA, Shadrina M, Vereshchagin NV, Limborskaya SA, Ivanova-Smolenskaya IA. Illarioshkin SN, et al. J Neurol. 1996 Jul;243(7):506-10. doi: 10.1007/BF00886871. J Neurol. 1996. PMID: 8836939
Alpha-theta border EEG abnormalities in preclinical Huntington's disease.
Ponomareva N, Klyushnikov S, Abramycheva N, Malina D, Scheglova N, Fokin V, Ivanova-Smolenskaia I, Illarioshkin S. Ponomareva N, et al. J Neurol Sci. 2014 Sep 15;344(1-2):114-20. doi: 10.1016/j.jns.2014.06.035. Epub 2014 Jun 24. J Neurol Sci. 2014. PMID: 25015843
New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).
Abramycheva N, Stepanova M, Kalashnikova L, Zakharova M, Maximova M, Tanashyan M, Lagoda O, Fedotova E, Klyushnikov S, Konovalov R, Sakharova A, Illarioshkin S. Abramycheva N, et al. J Neurol Sci. 2015 Feb 15;349(1-2):196-201. doi: 10.1016/j.jns.2015.01.018. Epub 2015 Jan 17. J Neurol Sci. 2015. PMID: 25623805
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI. Protasova MS, et al. Among authors: illarioshkin sn. Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5. Eur J Hum Genet. 2016. PMID: 26242992 Free PMC article.
201 results