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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: murtazina a. Int J Mol Sci. 2024 Oct 9;25(19):10841. doi: 10.3390/ijms251910841. Int J Mol Sci. 2024. PMID: 39409170 Free PMC article.
Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series.
Murtazina A, Subbotin D, Kuchina A, Gilvanova O, Degterev D, Shchagina O, Cherevatova T, Bulakh M, Sherstyukova D, Ryzhkova O, Kurushina O, Skoblov M, Borovikov A, Kutsev S. Murtazina A, et al. Front Genet. 2024 Aug 13;15:1414928. doi: 10.3389/fgene.2024.1414928. eCollection 2024. Front Genet. 2024. PMID: 39192891 Free PMC article.
Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas.
Borovikov A, Marakhonov A, Murtazina A, Davydenko K, Filatova A, Galeeva N, Kadnikova V, Ogorodova N, Gorodilova D, Kanivets I, Pyankov D, Zherdev K, Petel'guzov A, Zubkov P, Polyakov A, Shchagina O, Skoblov M. Borovikov A, et al. Among authors: murtazina a. Front Genet. 2024 Aug 13;15:1435493. doi: 10.3389/fgene.2024.1435493. eCollection 2024. Front Genet. 2024. PMID: 39192890 Free PMC article.
Motor innervation directs the correct development of the mouse sympathetic nervous system.
Erickson AG, Motta A, Kastriti ME, Edwards S, Coulpier F, Théoulle E, Murtazina A, Poverennaya I, Wies D, Ganofsky J, Canu G, Lallemend F, Topilko P, Hadjab S, Fried K, Ruhrberg C, Schwarz Q, Castellani V, Bonanomi D, Adameyko I. Erickson AG, et al. Among authors: murtazina a. Nat Commun. 2024 Aug 16;15(1):7065. doi: 10.1038/s41467-024-51290-0. Nat Commun. 2024. PMID: 39152112 Free PMC article.
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Bulakh M, Polyakova D, Dadali E, Rudenskaya G, Sharkova I, Markova T, Murtazina A, Demina N, Kurbatov S, Nikitina N, Udalova V, Polyakov A, Ryzhkova O. Bulakh M, et al. Among authors: murtazina a. Gene. 2024 Nov 15;927:148680. doi: 10.1016/j.gene.2024.148680. Epub 2024 Jun 12. Gene. 2024. PMID: 38876406
34 results