Shchagina O - Search Results

1

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.

2

A new case of infantile-onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family.

Chukhrova AL, Akimova IA, Shchagina OA, Kadnikova VA, Ryzhkova OP, Polyakov AV. Chukhrova AL, et al. Among authors: shchagina oa. Eur J Neurol. 2019 May;26(5):e61-e62. doi: 10.1111/ene.13880. Eur J Neurol. 2019. PMID: 30980493 No abstract available.

3

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.

4

[Ataxia-telangiectasia with rare phenotype and unusual pedigree].

Rudenskaya GE, Shchagina OA, Ampleeva MA, Konovalov FA. Rudenskaya GE, et al. Among authors: shchagina oa. Zh Nevrol Psikhiatr Im S S Korsakova. 2019;119(6):101-106. doi: 10.17116/jnevro2019119061101. Zh Nevrol Psikhiatr Im S S Korsakova. 2019. PMID: 31407689 Russian.

5

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

6

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.

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

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome.

Zabnenkova V, Shchagina O, Makienko O, Matyushchenko G, Ryzhkova O. Zabnenkova V, et al. Among authors: shchagina o. Appl Clin Genet. 2022 Jan 6;15:1-10. doi: 10.2147/TACG.S342804. eCollection 2022. Appl Clin Genet. 2022. PMID: 35023948 Free PMC article.

9

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.

10

Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Savostyanov KV, Pushkov AA, Shchagina OA, Maltseva VV, Suleymanov EA, Zhanin IS, Mazanova NN, Fisenko AP, Mishakova PS, Polyakov AV, Balanovska EV, Zinchenko RA, Tsygin AN. Savostyanov KV, et al. Among authors: shchagina oa. Front Genet. 2022 Apr 28;13:863157. doi: 10.3389/fgene.2022.863157. eCollection 2022. Front Genet. 2022. PMID: 35571017 Free PMC article.

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