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ArticlesPeer ReviewedFull Text
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Author / Creator:Ionova, Sofya A. ; Murtazina, Aysylu F. ; Marakhonov, Andrey A. ; Shchagina, Olga A. ; Ryadninskaya, Nina V. ; Tebieva, Inna S. ; Kadyshev, Vitaly V. ; Borovikov, Artem O. ; Ginter, Evgeny K. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-09, Vol.25 (17), p.9734
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ArticlesPeer ReviewedFull Text
Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective
Author / Creator:Krylova, Tatiana ; Itkis, Yulia ; Tsygankova, Polina ; Chistol, Denis ; Lyamzaev, Konstantin ; Tabakov, Vyacheslav ; Mikhaylova, Svetlana ; Nikitina, Natalia ; Rudenskaya, Galina ; Murtazina, Aysylu ; Markova, Tatiana ; Semenova, Natalia ; Buchinskaya, Natalia ; Saifullina, Elena ; Aksyanova, Hasyanya ; Sparber, Peter ; Andreeva, Natalia ; Venediktova, Natalia ; Ivanushkina, Alina ; Eliseeva, Daria ; Murakhovskaya, Yulia ; Sheremet, Natalia ; Zakharova, Ekaterina
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-05, Vol.26 (10), p.4565
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ArticlesPeer ReviewedFull Text
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
Author / Creator:Ionova, Sofya A. ; Murtazina, Aysylu F. ; Tebieva, Inna S. ; Getoeva, Zalina K. ; Dadali, Elena L. ; Chausova, Polina A. ; Shchagina, Olga A. ; Marakhonov, Andrey V. ; Kutsev, Sergey I. ; Zinchenko, Rena A.
Publisher:Basel: MDPI AG
Journal title:International journal of molecular sciences, 2022-10, Vol.23 (20), p.12127
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ArticlesPeer ReviewedFull Text
Genetic and Clinical Spectrum of GNE Myopathy in Russia
Author / Creator:Murtazina, Aysylu ; Nikitin, Sergey ; Rudenskaya, Galina ; Sharkova, Inna ; Borovikov, Artem ; Sparber, Peter ; Shchagina, Olga ; Chukhrova, Alena ; Ryzhkova, Oksana ; Shatokhina, Olga ; Orlova, Anna ; Udalova, Vasilisa ; Kanivets, Ilya ; Korostelev, Sergey ; Polyakov, Alexander ; Dadali, Elena ; Kutsev, Sergey
Publisher:Basel: MDPI AG
Journal title:Genes, 2022-10, Vol.13 (11), p.1991
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ArticlesPeer ReviewedFull Text
A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance
Author / Creator:Markova, Tatiana ; Murtazina, Aysylu ; Kenis, Vladimir ; Melchenko, Evgenii ; Ampleeva, Maria ; Nagornova, Tatiana ; Alieva, Aynur ; Dadali, Elena ; Kutsev, Sergey
Publisher:Jackson: MDPI AG
Journal title:International journal of translational medicine, 2022-06, Vol.2 (2), p.210-219
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ArticlesPeer ReviewedFull Text
Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene
Author / Creator:Kuchina, Anna ; Murtazina, Aysylu ; Borovikov, Artem ; Subbotin, Dmitrii ; Bardakov, Sergey ; Akhkiamova, Maria ; Nikolaeva, Aleksandra ; Shchagina, Olga ; Kutsev, Sergey
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-10, Vol.25 (19), p.10841
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ArticlesPeer ReviewedFull Text
The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene
Author / Creator:Shchagina, Olga ; Gilazova, Leisan ; Filatova, Alexandra ; Vafina, Zulfiia ; Murtazina, Aysylu ; Chigvintceva, Polina ; Kudryashova, Olga ; Polyakov, Aleksander ; Kutsev, Sergey ; Bulakh, Maria ; Skoblov, Mikhail
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-02, Vol.26 (3), p.1015
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ArticlesPeer ReviewedFull Text
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
Author / Creator:Chausova, Polina ; Murtazina, Aysylu ; Stepanova, Anna ; Borovicov, Artem ; Kovalskaia, Valeriia ; Ryadninskaya, Nina ; Chukhrova, Alena ; Ryzhkova, Oxana ; Poliakov, Aleksander
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-05, Vol.24 (9), p.8409
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ArticlesPeer ReviewedFull Text
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the IMTM1/I Gene
Author / Creator:Chausova, Polina ; Murtazina, Aysylu ; Stepanova, Anna ; Borovicov, Artem ; Kovalskaia, Valeriia ; Ryadninskaya, Nina ; Chukhrova, Alena ; Ryzhkova, Oxana ; Poliakov, Aleksander
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2023-05, Vol.24 (9)
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ArticlesPeer ReviewedFull Text
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
Author / Creator:Murtazina, Aysylu ; Borovikov, Artem ; Kuchina, Anna ; Ovsova, Olga ; Bulakh, Maria ; Chukhrova, Alena ; Braslavskaya, Svetlana ; Ryzhkova, Oksana ; Skryabin, Nikolay ; Kutsev, Sergey ; Dadali, Elena
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-12, Vol.25 (1), p.129
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ArticlesPeer ReviewedFull Text
The First Russian Patient with Native American Myopathy
Author / Creator:Murtazina, Aysylu ; Demina, Nina ; Chausova, Polina ; Shchagina, Olga ; Borovikov, Artem ; Dadali, Elena
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2022-02, Vol.13 (2), p.341
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ArticlesPeer ReviewedFull Text
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation
Author / Creator:Chausova, Polina ; Cherevatova, Tatiana ; Dadali, Elena ; Murtazina, Aysylu ; Bulakh, Maria ; Kurbatov, Sergei ; Anisimova, Inga ; Kanivets, Ilya ; Udalova, Vasilisa ; Rudenskaya, Galina ; Demina, Nina ; Sharkova, Inna ; Monakhova, Anastasia ; Tsygankova, Polina ; Markova, Tatiana ; Ryzhkova, Oksana ; Shatohina, Olga ; Galkina, Varvara ; Borovikov, Artem ; Mishina, Irina ; Shchagina, Olga ; Chukhrova, Alena ; Polyakov, Aleksander
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-02, Vol.26 (3), p.1257
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ArticlesPeer ReviewedFull Text
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
Author / Creator:Borovikov, Artem ; Galeeva, Nailya ; Marakhonov, Andrey ; Murtazina, Aysylu ; Kadnikova, Varvara ; Davydenko, Kseniya ; Orlova, Anna ; Sparber, Peter ; Markova, Tatiana ; Orlova, Maria ; Osipova, Darya ; Nagornova, Tatyana ; Semenova, Natalia ; Levchenko, Olga ; Filatova, Alexandra ; Sharova, Margarita ; Vasiluev, Peter ; Kanivets, Ilya ; Pyankov, Denis ; Sharkov, Artem ; Udalova, Vasilisa ; Kenis, Vladimir ; Nikitina, Natalia ; Sumina, Maria ; Zherdev, Konstantin ; Petel'guzov, Aleksandr ; Chelpachenko, Oleg ; Zubkov, Pavel ; Dan, Ivan ; Snetkov, Andrey ; Akinshina, Alexandra ; Buklemishev, Yury ; Ryzhkova, Oxana ; Tabakov, Vyacheslav ; Zakharova, Ekaterina ; Korostelev, Sergey ; Zinchenko, Rena ; Skoblov, Mikhail ; Polyakov, Alexander ; Dadali, Elena ; Kutsev, Sergey ; Shchagina, Olga
Publisher:United States: Hindawi
Journal title:Human mutation, 2024, Vol.2024, p.1-13
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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania

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Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective

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The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

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Genetic and Clinical Spectrum of GNE Myopathy in Russia

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A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance

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Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene

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The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene

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X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the IMTM1/I Gene

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Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3

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The First Russian Patient with Native American Myopathy

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A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation

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The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

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