Shchagina O - Search Results

1

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: shchagina o. Genes (Basel). 2022 Feb 13;13(2):341. doi: 10.3390/genes13020341. Genes (Basel). 2022. PMID: 35205385 Free PMC article.

2

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA. Rudenskaya GE, et al. J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061747 Free PMC article.

3

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.

Shchagina OA, Milovidova TB, Murtazina AF, Rudenskaya GE, Nikitin SS, Dadali EL, Polyakov AV. Shchagina OA, et al. Mol Biol Rep. 2020 Feb;47(2):1331-1337. doi: 10.1007/s11033-019-05238-z. Epub 2019 Dec 17. Mol Biol Rep. 2020. PMID: 31848916

4

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A. Shchagina O, et al. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.

5

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.

Beskorovainaya T, Konovalov F, Demina N, Shchagina O, Pashchenko M, Kanivets I, Pyankov D, Ryzhkova O, Polyakov A. Beskorovainaya T, et al. Among authors: shchagina o. J Autism Dev Disord. 2021 Jun;51(6):2159-2163. doi: 10.1007/s10803-020-04668-0. J Autism Dev Disord. 2021. PMID: 32816169 No abstract available.

6

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.

Sparber P, Sharova M, Filatova A, Shchagina O, Ivanova E, Dadali E, Skoblov M. Sparber P, et al. Among authors: shchagina o. BMC Med Genet. 2020 Oct 22;21(Suppl 1):197. doi: 10.1186/s12881-020-01128-5. BMC Med Genet. 2020. PMID: 33092578 Free PMC article.

7

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy.

Chausova PA, Ryzhkova OP, Rudenskaya GE, Chernykh VB, Shchagina OA, Polyakov AV. Chausova PA, et al. Among authors: shchagina oa. Front Genet. 2021 Oct 29;12:686800. doi: 10.3389/fgene.2021.686800. eCollection 2021. Front Genet. 2021. PMID: 34777456 Free PMC article.

8

[Diversity of CACNA1A-related disorders].

Rudenskaya GE, Sermyagina IG, Chukhrova AL, Dadali EL, Lozier ER, Shchagina OA. Rudenskaya GE, et al. Among authors: shchagina oa. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(12):106-111. doi: 10.17116/jnevro2021121121106. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 35041321 Russian.

9

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: shchagina o. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

10

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: shchagina o. Genes (Basel). 2022 Aug 24;13(9):1512. doi: 10.3390/genes13091512. Genes (Basel). 2022. PMID: 36140680 Free PMC article.

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