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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: zhorzholadze nv. 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: zhorzholadze nv. Biochemistry (Mosc). 2016 Jul;81(7):748-54. doi: 10.1134/S0006297916070117. Biochemistry (Mosc). 2016. PMID: 27449621 Free article.
[Inherited retinal diseases in patients with ABCA4 gene mutations].
Sheremet NL, Grushke IG, Zhorzholadze NV, Tanas AS, Strelnikov VV. Sheremet NL, et al. Among authors: zhorzholadze nv. Vestn Oftalmol. 2018;134(4):68-73. doi: 10.17116/oftalma201813404168. Vestn Oftalmol. 2018. PMID: 30166513 Review. Russian.
[Clinical polymorphism of splice site mutations in the ABCA4 gene].
Sheremet NL, Grushke IG, Zhorzholadze NV, Ronzina IA, Mikaelyan AA, Tanas AS, Strelnikov VV. Sheremet NL, et al. Among authors: zhorzholadze nv. Vestn Oftalmol. 2018;134(6):83-93. doi: 10.17116/oftalma201813406183. Vestn Oftalmol. 2018. PMID: 30721205 Russian.
22 results