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Aysylu F. Murtazina

Observed names: A. F. Murtazina, A. Murtazina, A.  F . Murtazina, A.F. Murtazina, AF Murtazina, Aisylu Murtazina, Aysylu Murtazina, А. Ф. Муртазина, А.Ф. Муртазина, Муртазина, А.Ф.
ORCID: 0000-0001-7023-7378
Observed ORCID: 0000-0001-7023-7378
OpenAlex ID: A5036801177
Bickerstaff brainstem encephalitis, acute transverse myelitis, and acute motor axonal neuropathy: diagnostic and treatment challenges in patients with concomitant syndromes. Clinical observation
2017 · A. F. Murtazina, E. S. Naumova, et al. · Neuromuscular Diseases · 38
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients
2019 · O. A. Shchagina, T. B. Milovidova, et al. · Molecular Biology Reports · 20
Genetic and Clinical Spectrum of GNE Myopathy in Russia
2022 · Aysylu Murtazina, Sergey Nikitin, et al. · Genes · 14
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Conduction block as an electrophysiological phenomenon: a review of the literature
2019 · S. S. Nikitin, A. F. Murtazina, et al. · Neuromuscular Diseases · 10
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Pleiotropic effects of MORC2 derive from its epigenetic signature
2025 · Fatemeh Peymani, Tomohiro Ebihara, et al. · Brain · 8
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The First Russian Patient with Native American Myopathy
2022 · Aysylu Murtazina, Nina Demina, et al. · Genes · 8
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Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene
2022 · Margarita Sharova, Darya Guseva, et al. · American Journal of Medical Genetics Part A · 7
Thoracic outlet syndrome: clinical and diagnostic features
2018 · A. F. Murtazina, S. S. Nikitin, et al. · Neuromuscular Diseases · 7
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Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy
2023 · Olga Shchagina, Mariya Orlova, et al. · International Journal of Molecular Sciences · 5
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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients
2017 · E. L. Dadali, S. S. Nikitin, et al. · Neuromuscular Diseases · 5
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Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective
2025 · Tatiana Krylova, Yulia Itkis, et al. · International Journal of Molecular Sciences · 4
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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
2025 · Olga Shchagina, Leisan Gilazova, et al. · International Journal of Molecular Sciences · 4
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Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series
2024 · Aysylu Murtazina, Artem Borovikov, et al. · Frontiers in Pediatrics · 4
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A comprehensive framework for the interpretation of TTN missense variants
2026 · Maria Francesca Di Feo, Martin Rees, et al. · Genome Medicine · 3
Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene
2024 · Anna Kuchina, Aysylu Murtazina, et al. · International Journal of Molecular Sciences · 3
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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
2024 · Sofya A. Ionova, Aysylu F. Murtazina, et al. · International Journal of Molecular Sciences · 3
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Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease
2024 · Olga Shchagina, Aysylu Murtazina, et al. · Frontiers in Genetics · 3
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
2024 · Artem Borovikov, Nailya Galeeva, et al. · Human Mutation · 3
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Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant
2026 · Polina Chausova, Aysylu Murtazina, et al. · International Journal of Molecular Sciences · 2
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Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene
2025 · Artem Borovikov, Ksenia Davydenko, et al. · Frontiers in Genetics · 2
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A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation
2025 · Polina Chausova, Tatiana Cherevatova, et al. · International Journal of Molecular Sciences · 2
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Clinical and Genetic Analysis of Digenic Muscular Dystrophy due to SRPK3 and TTN Variants in Two Siblings
2024 · Inna Sharkova, Artem Borovikov, et al. · Clinical Genetics · 2
Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the JAG2 gene
2024 · Sergey Nikitin, Evgeniya Melnik, et al. · Frontiers in Pediatrics · 2
Asymmetric scapuloperoneal phenotype of MATR3-related distal myopathy: case series
2024 · Aysylu Murtazina, Dmitrii Subbotin, et al. · Frontiers in Genetics · 2
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3
2023 · Aysylu Murtazina, Artem Borovikov, et al. · International Journal of Molecular Sciences · 2
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Works count: 79
Citation count: 192
H-index: 7
I10-index: 4
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