Search Results - "Shchagina, O A"

Genetic Landscape of Nephropathic Cystinosis in Russian Children by Savostyanov, K V, Pushkov, A A, Shchagina, O A, Maltseva, V V, Suleymanov, E A, Zhanin, I S, Mazanova, N N, Fisenko, A P, Mishakova, P S, Polyakov, A V, Balanovska, E V, Zinchenko, R A, Tsygin, A N

“…Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the gene…”
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Muscular dystrophy associated with the DMD gene in women by Vorontsova, E. O., Zinina, A. V., Shchagina, O. A.

“…Dystrophinopathies are a spectrum of X-linked muscular disorders associated with pathogenic/likely pathogenic variants in the dystrophin gene (DMD). Typically,…”
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Factors modifying the course of spinal muscular atrophy 5q by Akhkiamova, M. A., Shchagina, O. A., Polyakov, A. V.

“…Proximal spinal muscular atrophy 5q (SMA 5q) is a severe autosomal recessive neuromuscular disease characterized by progressive symptoms of flaccid paralysis…”
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SMArt Retro study: a retrospective data analysis of the Russian registry of patients with spinal muscular atrophy by Vlodavets, D. V., Shchagina, O. A., Polyakov, A. V., Kutsev, S. I.

“…Background. Existing registries of patients with spinal muscular atrophy (SMA) 5q serve as a valuable source of information on identified patients. Information…”
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A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family by Chukhrova, A. L., Akimova, I. A., Shchagina, O. A., Kadnikova, V. A., Ryzhkova, O. P., Polyakov, A. V.

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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients by Shchagina, O. A., Milovidova, T. B., Murtazina, A. F., Rudenskaya, G. E., Nikitin, S. S., Dadali, E. L., Polyakov, A. V.

“…Pathogenic variants in the HINT1 gene lead to hereditary axonopathy with neuromyotonia. However, many studies show that neuromyotonia may remain undiagnosed,…”
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Possibility of exon skipping therapy for Duchenne muscular dystrophy in Russian patients: present and future by Zinina, E. V., Bulakh, M. V., Ryzhkova, O. P., Shchagina, O. A., Polyakov, A. V.

“…Background. Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy in children, that occurs between one and three years of age. DMD is…”
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A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy by Chausova, P. A., Ryzhkova, O. P., Rudenskaya, G. E., Chernykh, V. B., Shchagina, O. A., Polyakov, A. V.

“…Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary…”
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Juvenile amyotrophic lateral sclerosis type 4: case report and review by Rudenskaya, G. E., Nikitin, S. S., Shatokhina, O. L., Shchagina, O. A.

“…Juvenile amyotrophic lateral sclerosis (ALS) presents a group of few rare monogenic disorders with onset from early childhood up to 25 years and much more…”
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Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the PAX3 gene by Markova, T. V., Mavlyukeeva, V. V., Ginzburg, B. G., Shchagina, O. A., Nikitin, S. S., Dadali, E. L.

“…Craniofacial dysmorphia-deafness-anomalies of the upper limbs is a rare autosomal dominant syndrome caused by variants in the PAX3 gene. In contrast to the two…”
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Change in the spectrum of detected mutations in the DMD gene depending on the methodological capabilities of the laboratory by Zinina, E. V., Bulakh, M. V., Ryzhkova, O. P., Shchagina, O. A., Polyakov, A. V.

“…Background . Duchenne muscular dystrophy (DMD) is a severe, progressive form of muscular dystrophy that occurs in children between one and three years of age…”
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Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene by Sharkova, I. V., Nikitin, S. S., Markova, T. V., Voskanyan, A. E., Melnik, E. A., Shchagina, O. A., Dadali, E. L.

“…Distal arthrogryposis is a group of genetically heterogeneous congenital diseases characterized by non-progressive contractures predominantly distal joints of…”
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Diversity of VCP-related phenotypes: case report and literature review by Rudenskaya, G. E., Mironovich, O. L., Murtazina, A. F., Shchagina, O. A.

“…Background. Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms…”
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Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene by Dadali, E. L., Borovikov, A. O., Shchagina, O. A., Mironovich, O. L.

“…Bosch–Boonstra–Schaaf optic atrophy is autosomal dominant disorder caused by mutations in the NR2F1 gene. Its common features include optic atrophy and / or…”
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POLR3A-related hypomyelinating leukodystrophy: case report and literature review by Murtazina, A. F., Markova, T. V., Orlova, A. A., Ryzhkova, O. P., Shchagina, O. A., Dadali, E. L.

“…Hypomyelinating leukodystrophies (HL) is a group of genetically heterogeneous neurodegenerative disorders characterized by a lack of brain myelin deposition…”
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Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series by Kurbatov, S. A., Kenis, V. M., Savina, M. V., Kleimenova, I. S., Priymak, N. S., Kryukov, Yu. V., Kokorina, A. A., Ryadninskaya, N. V., Kuznetsova, I. A., Shchagina, O. A., Poliakov, A. V.

“…Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation of muscle” is the…”
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Clinical and genetic characteristics of type 3 lissencephaly caused by a mutation in the TUBA1A gene (OMIM: 611603) by Guseva, D. M., Markova, T. V., Bessonova, L. A., Nikitin, S. S., Dadali, E. L., Shchagina, O. A.

“…Background. Lissencephaly (LIS) is a spectrum of malformations of the cerebral cortex that occur as a result of impaired migration of neuronal precursors to…”
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Phenotypic variability in TRPV4-associated neuropathies and neuronopathies: a case series by Murtazina, A. F., Tsabay, P. N., Rudenskaya, G. E., Bessonova, L. A., Bostanova, F. M., Guseva, D. M., Sharkova, I. V., Shchagina, O. A., Orlova, A. A., Ryzhkova, O. P., Markova, T. V., Kuchina, A. S., Nikitin, S. S., Dadali, E. L.

“…TRPV4 ‑associated neuromuscular diseases represent a clinical spectrum of neuropathies and motor neuron disorders. To date, 3 phenotypic forms are…”
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Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) by Dadali, E. L., Markova, T. V., Levchenko, O. A., Chukhrova, A. L., Shchagina, O. A.

“…Introduction. X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene is one of the most common monogenic variants of intellectual…”
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Diagnostic utility of exome sequencing for inherited peripheral neuropathies by Shchagina, O. A., Ryzhkova, O. P., Chukhrova, A. L., Milovidova, T. V., Gundorova, P., Mironovich, O. L., Orlova, A. A., Orlova, M. D., Poliakov, A. V.

“…Introduction . Hereditary motor and sensory neuropathies, a highly genetic heterogeneous group of disorders, have a phenotype caused by peripheral nerve…”
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