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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">r-n-j</journal-id><journal-title-group><journal-title xml:lang="ru">Российский неврологический журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Russian neurological journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2658-7947</issn><issn pub-type="epub">2686-7192</issn><publisher><publisher-name>МИА</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.30629/2658-7947-2020-25-2-28-36</article-id><article-id custom-type="elpub" pub-id-type="custom">r-n-j-74</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ИССЛЕДОВАНИЯ И КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CLINICAL RESEARCHES AND CASE REPORTS</subject></subj-group></article-categories><title-group><article-title>Атаксии с нарушением репарации ДНК у пациентов взрослого возраста: описание серии клинических случаев и обзор литературы</article-title><trans-title-group xml:lang="en"><trans-title>Ataxia with Impaired DNA Repair in Adults: A Case Series and Review of the Literature</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3179-7668</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Нужный</surname><given-names>Е. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Nuzhnyi</surname><given-names>E. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Нужный Евгений Петрович — врач-невролог 5-го неврологического отделения</p><p>Москва</p></bio><bio xml:lang="en"><p>Nuzhnyi Evgenii Petrovich — Neurologist of Department of Neurogenetics</p><p>Moscow</p></bio><email xlink:type="simple">enuzhny@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-8752-7045</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Клюшников</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Klyushnikov</surname><given-names>S. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-9419-1159</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Абрамычева</surname><given-names>Н. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Abramycheva</surname><given-names>N. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8070-7644</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Федотова</surname><given-names>Е. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Fedotova</surname><given-names>E. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3718-6238</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Андреев</surname><given-names>М. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Andreev</surname><given-names>M. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3367-5373</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ветчинова</surname><given-names>А. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Vetchinova</surname><given-names>A. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2704-6282</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Иллариошкин</surname><given-names>С. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Illarioshkin</surname><given-names>S. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Москва</p></bio><bio xml:lang="en"><p>Moscow</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Федеральное государственное бюджетное научное учреждение «Научный центр неврологии»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Center of Neurology</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>22</day><month>07</month><year>2020</year></pub-date><volume>25</volume><issue>2</issue><fpage>28</fpage><lpage>36</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Нужный Е.П., Клюшников С.А., Абрамычева Н.Ю., Федотова Е.Ю., Андреев М.Н., Ветчинова А.С., Иллариошкин С.Н., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Нужный Е.П., Клюшников С.А., Абрамычева Н.Ю., Федотова Е.Ю., Андреев М.Н., Ветчинова А.С., Иллариошкин С.Н.</copyright-holder><copyright-holder xml:lang="en">Nuzhnyi E.P., Klyushnikov S.A., Abramycheva N.Y., Fedotova E.Y., Andreev M.N., Vetchinova A.S., Illarioshkin S.N.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.r-n-j.com/jour/article/view/74">https://www.r-n-j.com/jour/article/view/74</self-uri><abstract/><trans-abstract xml:lang="en"/><kwd-group xml:lang="ru"><kwd>нарушения репарации ДНК</kwd><kwd>атаксия-телеангиэктазия</kwd><kwd>атаксия с окуломоторной апраксией</kwd><kwd>клиническая картина</kwd><kwd>генетическая диагностика</kwd></kwd-group><kwd-group xml:lang="en"><kwd>DNA repair disorders</kwd><kwd>ataxia telangiectasia</kwd><kwd>ataxia with oculomotor apraxia</kwd><kwd>clinical presentation</kwd><kwd>genetic diagnosis</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Исследование выполнено при финансовой поддержке РФФИ в рамках научного проекта № 19–015–00171.</funding-statement><funding-statement xml:lang="en">The study was carried out with the ﬁnancial support of the Russian Foundation for Basic Research in the framework of the scientiﬁc project No. 19–015–00171</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">McKinnon P.J. 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Elsevier, 2018. https://doi.org/10.1016/b978-0-444-64189-2.00007-x.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
