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Page 1
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Merkuryeva E, Markova T, Tyurin A, Valeeva D, Kenis V, Sumina M, Sorokin I, Shchagina O, Skoblov M, Nefedova M, Khusainova R, Zakharova E, Dadali E, Kutsev S. Merkuryeva E, et al. Among authors: zakharova e. Int J Mol Sci. 2023 Apr 28;24(9):8021. doi: 10.3390/ijms24098021. Int J Mol Sci. 2023. PMID: 37175737 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. Among authors: zakharova ey. Mitochondrion. 2021 Mar;57:205-212. doi: 10.1016/j.mito.2021.01.004. Epub 2021 Jan 21. Mitochondrion. 2021. PMID: 33486010
LRRK2 exonic variants are associated with lysosomal hydrolase activities and lysosphingolipid alterations in Parkinson's disease.
Usenko TS, Senkevich KA, Basharova KS, Bezrukova AI, Baydakova GV, Tyurin AA, Beletskaya MV, Kulabukhova DG, Grunina MN, Emelyanov AK, Miliukhina IV, Timofeeva AA, Zakharova EY, Pchelina SN. Usenko TS, et al. Among authors: zakharova ey. Gene. 2023 Oct 5;882:147639. doi: 10.1016/j.gene.2023.147639. Epub 2023 Jul 18. Gene. 2023. PMID: 37473971
Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation.
Bostanova FM, Tsygankova PG, Larshina EA, Nagornov IO, Evseeva YV, Krutikhina IL, Dzhentemirova ME, Kashlakova MN, Petukhova MS, Sharkova IV, Zakharova EY. Bostanova FM, et al. Among authors: zakharova ey. Genes (Basel). 2024 May 11;15(5):615. doi: 10.3390/genes15050615. Genes (Basel). 2024. PMID: 38790244 Free PMC article.
483 results