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Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Bychkov I, Baydakova G, Filatova A, Migiaev O, Marakhonov A, Pechatnikova N, Pomerantseva E, Konovalov F, Ampleeva M, Kaimonov V, Skoblov M, Zakharova E. Bychkov I, et al. Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887. Int J Mol Sci. 2021. PMID: 34639227 Free PMC article.
Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.
Baydakova G, Ilyushkina A, Gaffke L, Pierzynowska K, Bychkov I, Ługowska A, Wegrzyn G, Tylki-Szymanska A, Zakharova E. Baydakova G, et al. Among authors: bychkov i. Diagnostics (Basel). 2020 Mar 13;10(3):155. doi: 10.3390/diagnostics10030155. Diagnostics (Basel). 2020. PMID: 32183018 Free PMC article.
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: bychkov i. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes.
Bychkov IO, Itkis YS, Tsygankova PG, Krylova TD, Mikhaylova SV, Klyushnikov SA, Pechatnikova NL, Degtyareva AV, Nikolaeva EA, Seliverstov YA, Kurbatov SA, Dadali EL, Rudenskaya GE, Illarioshkin SN, Zakharova EY. Bychkov IO, et al. Mitochondrion. 2021 Mar;57:205-212. doi: 10.1016/j.mito.2021.01.004. Epub 2021 Jan 21. Mitochondrion. 2021. PMID: 33486010
Alkaptonuria in Russia: mutational spectrum and novel variants.
Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E. Bychkov I, et al. Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20. Eur J Med Genet. 2021. PMID: 33621656
87 results