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105 results

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Page 1
Spectrum of Mutations in PTPN11 in Russian Cohort.
Orlova A, Guseva D, Demina N, Polyakov A, Ryzhkova O. Orlova A, et al. Among authors: demina n. Genes (Basel). 2024 Mar 7;15(3):345. doi: 10.3390/genes15030345. Genes (Basel). 2024. PMID: 38540404 Free PMC article.
The First Russian Patient with Native American Myopathy.
Murtazina A, Demina N, Chausova P, Shchagina O, Borovikov A, Dadali E. Murtazina A, et al. Among authors: demina n. Genes (Basel). 2022 Feb 13;13(2):341. doi: 10.3390/genes13020341. Genes (Basel). 2022. PMID: 35205385 Free PMC article.
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Levchenko O, et al. Among authors: demina n. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 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: demina n. Gene. 2024 Nov 15;927:148680. doi: 10.1016/j.gene.2024.148680. Epub 2024 Jun 12. Gene. 2024. PMID: 38876406
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Musto E, Liao VWY, Johannesen KM, Fenger CD, Lederer D, Kothur K, Fisk K, Bennetts B, Vrielynck P, Delaby D, Ceulemans B, Weckhuysen S, Sparber P, Bouman A, Ardern-Holmes S, Troedson C, Battaglia DI, Goel H, Feyma T, Bakhtiari S, Tjoa L, Boxill M, Demina N, Shchagina O, Dadali E, Kruer M, Cantalupo G, Contaldo I, Polster T, Isidor B, Bova SM, Fazeli W, Wouters L, Miranda MJ, Darra F, Pede E, Le Duc D, Jamra RA, Küry S, Proietti J, McSweeney N, Brokamp E, Andrews PI, Gouray Garcia M, Chebib M, Møller RS, Ahring PK, Gardella E. Musto E, et al. Among authors: demina n. Ann Neurol. 2023 Aug 22. doi: 10.1002/ana.26774. Online ahead of print. Ann Neurol. 2023. PMID: 37606373
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M. Sparber P, et al. Among authors: demina n. Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9. Parkinsonism Relat Disord. 2021. PMID: 33607528
105 results