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Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26.
Mitochondrion. 2020.
PMID: 31669237
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.
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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: nevinitsyna ta.
J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267.
J Clin Invest. 2021.
PMID: 33465056
Free PMC article.
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[High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency].
Krylova TD, Tsygankova PG, Itkis YS, Sheremet NL, Nevinitsyna TA, Mikhaylova SV, Zakharova EY.
Krylova TD, et al. Among authors: nevinitsyna ta.
Biomed Khim. 2017 Jul;63(4):327-333. doi: 10.18097/PBMC20176304327.
Biomed Khim. 2017.
PMID: 28862604
Russian.
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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.
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[Molecular mechanisms and pathogenetic treatment of mitochondrial optic neuropathies].
Nevinitsyna TA, Sheremet NL.
Nevinitsyna TA, et al.
Vestn Oftalmol. 2016;132(1):91-96. doi: 10.17116/oftalma2016132191-96.
Vestn Oftalmol. 2016.
PMID: 28635852
Russian.
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[Modern opportunities and prospects for studying pathogenesis, diagnosing and treating hereditary optic neuropathies].
Sheremet NL, Khanakova NA, Nevinitsyna TA, Tsygankova PG, Itkis IuS, Krylova TD, Loginova AN, Chukhrova AL, Venkova LS, Svistunova DM, Chernoivanenko IS, Zakharova EIu, Poliakov AV, Minin AA.
Sheremet NL, et al. Among authors: nevinitsyna ta.
Vestn Oftalmol. 2014 Nov-Dec;130(6):62-70.
Vestn Oftalmol. 2014.
PMID: 25715555
Russian.
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