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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: sheremet nl. 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. Biochemistry (Mosc). 2016 Jul;81(7):748-54. doi: 10.1134/S0006297916070117. Biochemistry (Mosc). 2016. PMID: 27449621 Free article.
Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, Ilyushkina AA, Zabnenkova VV, Mikhaylova SV, Pechatnikova NL, Sheremet NL, Zakharova EY. Tsygankova PG, et al. Among authors: sheremet nl. J Inherit Metab Dis. 2019 Sep;42(5):918-933. doi: 10.1002/jimd.12142. Epub 2019 Jul 24. J Inherit Metab Dis. 2019. PMID: 31260105
72 results