Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.

Autor: Kistol D; Research Centre for Medical Genetics, 115522 Moscow, Russia., Tsygankova P; Research Centre for Medical Genetics, 115522 Moscow, Russia., Krylova T; Research Centre for Medical Genetics, 115522 Moscow, Russia., Bychkov I; Research Centre for Medical Genetics, 115522 Moscow, Russia., Itkis Y; Research Centre for Medical Genetics, 115522 Moscow, Russia., Nikolaeva E; Research and Clinical Institute of Pediatrics Named After Yuri Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 125412 Moscow, Russia., Mikhailova S; Russian Children's Clinical Hospital, 119571 Moscow, Russia., Sumina M; State Healthcare Institution of Sverdlovsk Region 'Clinical and Diagnostic Center 'Mother's and Child Health Protection', 620067 Ekaterinburg, Russia., Pechatnikova N; Morozov Children's City Clinical Hospital, 119049 Moscow, Russia., Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University Named after N. N. Burdenko, 394036 Voronezh, Russia.; Medical Center 'Zdorovii Rebenok', 394077 Voronezh, Russia., Bostanova F; Research Centre for Medical Genetics, 115522 Moscow, Russia., Migiaev O; Gemotest Laboratory LLC., 123112 Moscow, Russia., Zakharova E; Research Centre for Medical Genetics, 115522 Moscow, Russia.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 13; Vol. 24 (2). Date of Electronic Publication: 2023 Jan 13.

Case Report: Functional Investigation of an Undescribed Missense Variant Affecting Splicing in a Patient With Dravet Syndrome.

Autor: Sparber P; Laboratory of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia., Mikhaylova S; Medical Genetics Department, Russian Children's Clinical Hospital, Moscow, Russia., Galkina V; Clinical Department, Research Centre for Medical Genetics, Moscow, Russia., Itkis Y; Laboratory of Inherited Metabolic Disorders, Research Centre for Medical Genetics, Moscow, Russia., Skoblov M; Laboratory of Functional Genomics, Research Centre for Medical Genetics, Moscow, Russia.

Publikováno v: Frontiers in neurology [Front Neurol] 2021 Dec 06; Vol. 12, pp. 761892. Date of Electronic Publication: 2021 Dec 06 (Print Publication: 2021).

Sequential fission and the influence of ²⁰⁸Pb closed shells on the dynamics of superheavy element synthesis reactions.

Autor: Hinde, D.J.¹ david.hinde@anu.edu.au, Jeung, D.Y.¹, Buete, J.¹, Cook, K.J.¹, Dasgupta, M.¹, Simenel, C.^1,2, Simpson, E.C.¹, Albers, H.M.³, Carter, I.P.¹ david.hinde@anu.edu.au, Düllmann, Ch.E.^3,4,5, Khuyagbaatar, J.^3,4, Prasad, E.¹, Sengupta, C.¹, Smith, J.F.¹, Vo-Phuoc, K.¹, Walshe, J.¹, Williams, E.¹, Yakushev, A.^3,4

Publikováno v: EPJ Web of Conferences. 10/18/2024, Vol. 306, p1-9. 9p.

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A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.

Autor: Itkis Y; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia. Electronic address: yulya.itkis@gmail.com., Krylova T; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia., Pechatnikova NL; Morozov Municipal Children's Hospital of Moscow City, Russia., De Grassi A; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy., Tabakov VY; Common Use Center 'Biobank', FSBI 'Research Centre for Medical Genetics', Moscow, Russia., Pierri CL; Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy., Aleshin V; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia., Boyko A; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia., Bunik VI; Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow, Russia; Belozersky Institute of Physicochemical Biology, Lomonosov Moscow State University, Moscow, Russia., Zakharova EY; Department of Inborn Errors of Metabolism, FSBI 'Research Centre for Medical Genetics', Moscow, Russia.

Publikováno v: Mitochondrion [Mitochondrion] 2019 Jul; Vol. 47, pp. 10-17. Date of Electronic Publication: 2019 Apr 19.