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Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene.
Kuchina A, Murtazina A, Borovikov A, Subbotin D, Bardakov S, Akhkiamova M, Nikolaeva A, Shchagina O, Kutsev S. Kuchina A, et al. Among authors: kutsev s. Int J Mol Sci. 2024 Oct 9;25(19):10841. doi: 10.3390/ijms251910841. Int J Mol Sci. 2024. PMID: 39409170 Free PMC article.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: kutsev s. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
The Phosphonate Derivative of C60 Fullerene Induces Differentiation towards the Myogenic Lineage in Human Adipose-Derived Mesenchymal Stem Cells.
Kostyuk SV, Proskurnina EV, Ershova ES, Kameneva LV, Malinovskaya EM, Savinova EA, Sergeeva VA, Umriukhin PE, Dolgikh OA, Khakina EA, Kraevaya OA, Troshin PA, Kutsev SI, Veiko NN. Kostyuk SV, et al. Among authors: kutsev si. Int J Mol Sci. 2021 Aug 27;22(17):9284. doi: 10.3390/ijms22179284. Int J Mol Sci. 2021. PMID: 34502190 Free PMC article.
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4.
Markova T, Kenis V, Melchenko E, Alieva A, Nagornova T, Orlova A, Ogorodova N, Shchagina O, Polyakov A, Dadali E, Kutsev S. Markova T, et al. Among authors: kutsev s. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S. Murtazina A, et al. Among authors: kutsev s. Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991. Genes (Basel). 2022. PMID: 36360228 Free PMC article.
Specificities of the DMD Gene Mutation Spectrum in Russian Patients.
Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Zinina E, et al. Among authors: kutsev s. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.
160 results