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Page 1
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: nevinitsyna ta. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Previously Unclassified Mutation of mtDNA m.3472T>C: Evidence of Pathogenicity in Leber's Hereditary Optic Neuropathy.
Sheremet NL, Nevinitsyna TA, Zhorzholadze NV, Ronzina IA, Itkis YS, Krylova TD, Tsygankova PG, Malakhova VA, Zakharova EY, Tokarchuk AV, Panteleeva AA, Karger EM, Lyamzaev KG, Avetisov SE. Sheremet NL, et al. Among authors: nevinitsyna ta. Biochemistry (Mosc). 2016 Jul;81(7):748-54. doi: 10.1134/S0006297916070117. Biochemistry (Mosc). 2016. PMID: 27449621 Free article.
Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY. Krylova TD, et al. Among authors: nevinitsyna ta. Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26. Mitochondrion. 2020. PMID: 31669237
Electrophysiological and psychophysical studies in assessment of visual functions in patients with hereditary optic neuropathy.
Sheremet NL, Ronzina IA, Andreeva NA, Zhorzholadze NV, Murakhovskaya YK, Nevinitsyna TA, Shmelkova MS, Krylova TD, Tsygankova PG, Gerasimidi ES, Lyamzaev KG, Skulachev MV, Karger EM. Sheremet NL, et al. Among authors: nevinitsyna ta. Vestn Oftalmol. 2022;138(2):5-14. doi: 10.17116/oftalma20221380215. Vestn Oftalmol. 2022. PMID: 35488557 English, Russian.