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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.
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.
Shadrina MI, Shulskaya MV, Klyushnikov SA, Nikopensius T, Nelis M, Kivistik PA, Komar AA, Limborska SA, Illarioshkin SN, Slominsky PA. Shadrina MI, et al. Among authors: illarioshkin sn. Cerebellum Ataxias. 2016 Jan 13;3:2. doi: 10.1186/s40673-016-0040-8. eCollection 2016. Cerebellum Ataxias. 2016. PMID: 26770814 Free PMC article.
Manifestation of Huntington's disease pathology in human induced pluripotent stem cell-derived neurons.
Nekrasov ED, Vigont VA, Klyushnikov SA, Lebedeva OS, Vassina EM, Bogomazova AN, Chestkov IV, Semashko TA, Kiseleva E, Suldina LA, Bobrovsky PA, Zimina OA, Ryazantseva MA, Skopin AY, Illarioshkin SN, Kaznacheyeva EV, Lagarkova MA, Kiselev SL. Nekrasov ED, et al. Among authors: illarioshkin sn. Mol Neurodegener. 2016 Apr 14;11:27. doi: 10.1186/s13024-016-0092-5. Mol Neurodegener. 2016. PMID: 27080129 Free PMC article.
188 results