New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency by Baydakova, Galina V, Tsygankova, Polina G, Pechatnikova, Natalia L, Bazhanova, Olga A, Nazarenko, Yana D, Zakharova, Ekaterina Y

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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy by Stenton, Sarah L, Sheremet, Natalia L, Catarino, Claudia B, Andreeva, Natalia A, Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L, Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S, Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D, Kunz, Wolfram S, La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F, Maresca, Alessandra, Mayr, Johannes A, Meisterknecht, Jana, Nevinitsyna, Tatiana A, Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S, Strom, Tim M, Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T, Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y, Zhorzholadze, Nino V, Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G, Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger

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Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders by Tsygankova, Polina G., Itkis, Yulia S., Krylova, Tatiana D., Kurkina, Marina V., Bychkov, Igor O., Ilyushkina, Aleksandra A., Zabnenkova, Viktoria V., Mikhaylova, Svetlana V., Pechatnikova, Natalia L., Sheremet, Natalia L., Zakharova, Ekaterina Y.

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Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy by Krylova, Tatiana D., Sheremet, Natalia L., Tabakov, Vyacheslav Yu, Lyamzaev, Konstantin G., Itkis, Yulia S., Tsygankova, Polina G., Andreeva, Natalia A., Shmelkova, Maria S., Nevinitsyna, Tatiana A., Kadyshev, Vitaly V., Zakharova, Ekaterina Yu

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Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation by Bostanova, Fatima M, Tsygankova, Polina G, Larshina, Elena A, Nagornov, Ilya O, Evseeva, Yulia V, Krutikhina, Irina L, Dzhentemirova, Marina E, Kashlakova, Marina N, Petukhova, Marina S, Sharkova, Inna V, Zakharova, Ekaterina Y

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Identification of a Novel Indel Variant in the IDARS2/I Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation by Bostanova, Fatima M, Tsygankova, Polina G, Larshina, Elena A, Nagornov, Ilya O, Evseeva, Yulia V, Krutikhina, Irina L, Dzhentemirova, Marina E, Kashlakova, Marina N, Petukhova, Marina S, Sharkova, Inna V, Zakharova, Ekaterina Y

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Novel pathogenic heteroplasmic substitution m.14597 A>G in the MT-ND6 gene in female with Leber’s hereditary optic neuropathy by Krylova, Tatiana D., Sheremet, Natalia L., Tabakov, Vyacheslav Yu, Tsygankova, Polina G., Itkis, Yulia S., Kadyshev, Vitalii V., Zakharova, Ekaterina Yu

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High-resolution respirometry in fibroblasts of mitochondrial complex I deficiency patients by Krylova, Tatiana D., Tsygankova, Polina G., Itkis, Yulia S., Sheremet, Natalia L., Nevinitsyna, Tatiana A., Zakharova, Ekaterina Yu

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Mitochondrial DNA mutations in cases of Leigh-like disease by Itkis⁎, Yulia S., Rudenskaya, Galina E., Tsygankova, Polina G., Zakharova, Ekaterina Y., Mikhailova, Svetlana V.

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Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency by Tsygankova, Polina, Zakharova, E Yu, Baydakova, G V

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