Publications by authors named "Yulia Itkis"

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Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.
Tatiana Krylova, Yulia Itkis, Polina Tsygankova, Denis Chistol, Konstantin Lyamzaev

Int J Mol Sci· May 2025

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Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis

Int J Mol Sci· January 2023

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Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Yulia Itkis

Mol Genet Metab Rep· September 2022

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Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Yulia S Itkis

Genome Med· April 2022

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Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.
Peter Sparber, Svetlana Mikhaylova, Varvara Galkina, Yulia Itkis, Mikhail Skoblov

Front Neurol· December 2021

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BH4-deficient hyperphenylalaninemia in Russia.
Polina Gundorova, Irina A Kuznetcova, Galina V Baydakova, Anna A Stepanova, Yulia S Itkis

PLoS One· September 2021

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Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
Elena A Kamenets, Elena A Gusarova, Natalia V Milovanova, Yulia S Itkis, Tatiana V Strokova

JIMD Rep· May 2020

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Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Tatiana D Krylova, Natalia L Sheremet, Vyacheslav Yu Tabakov, Konstantin G Lyamzaev, Yulia S Itkis

Mitochondrion· January 2020

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Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
Polina G Tsygankova, Yulia S Itkis, Tatiana D Krylova, Marina V Kurkina, Igor O Bychkov

J Inherit Metab Dis· September 2019

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A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.
Yulia Itkis, Tatiana Krylova, Natalia L Pechatnikova, Anna De Grassi, Vyacheslav Yu Tabakov

Mitochondrion· July 2019

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