Výsledky vyhľadávania - "Tsygankova, P G"

Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes Autor Bychkov, I.O., Itkis, Y.S., Tsygankova, P.G., Krylova, T.D., Mikhaylova, S.V., Klyushnikov, S.A., Pechatnikova, N.L., Degtyareva, A.V., Nikolaeva, E.A., Seliverstov, Y.A., Kurbatov, S.A., Dadali, E.L., Rudenskaya, G.E., Illarioshkin, S.N., Zakharova, E.Y.

“…•The largest Russian cohort of patients with mtDNA maintenance disorders was analysed.•Some peculiar features of the mutational spectra for the TWNK and the…”
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Long-term changes in morphological and functional parameters of the optic nerve in patients with various genetic variants of hereditary optic neuropathies Autor Murakhovskaya, Yu K, Andreeva, N A, Tsygankova, P G, Krylova, T D, Sheremet, N L

“…Leber's hereditary optic neuropathy (LHON) and autosomal recessive optic neuropathy (ARON) are degenerative diseases of the optic nerve caused by mutations in…”
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Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation Autor Andreeva, N A, Murakhovskaya, Yu K, Tsygankova, P G, Krilova, T D, Sheremet, N L

“…Leber's hereditary optic neuropathy (LHON) is caused by primary mtDNA by both primary mtDNA mutations and new mtDNA mutations. The last ones, when detected in…”
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Autosomal recessive optic neuropathies: genetic variants, clinical manifestations Autor Murakhovskaya, Yu K, Sheremet, N L, Shmelkova, M S, Krylova, T D, Tsygankova, P G

“…Hereditary optic neuropathies (HON) - a group of neurodegenerative diseases characterized by primary loss of structure and function of the retinal ganglion…”
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A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome Autor Bardakov, S. N., Limaev, I. S., Emelin, A. M., Nikitins, V., Presnyakov, E. V., Kurbatov, S. A., Tsygankova, P. G., Tsargush, V. A., Chekmareva, I. A., Kolmakova, E. V., Bakulina, N. V., Deev, R. V.

“…Mitochondrial neurogastrointestinal encephalomyopathy is an extremely rare (1–9:1 000 000, Orphanet, 2021) multisystem genetic disease caused by mutations in…”
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Electrophysiological and psychophysical studies in assessment of visual functions in patients with hereditary optic neuropathy Autor Sheremet, N L, Ronzina, I A, Andreeva, N A, Zhorzholadze, N V, Murakhovskaya, Yu K, Nevinitsyna, T A, Shmelkova, M S, Krylova, T D, Tsygankova, P G, Gerasimidi, E S, Lyamzaev, K G, Skulachev, M V, Karger, E M

“…To study the capabilities of electrophysiological and psychophysical examination methods for assessment of the functional state of ganglion cells, retina and…”
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Characteristics of changes in retinal and optic nerve microvascularisature in Leber hereditary optic neuropathy patients seen with optical coherence tomography angiography Autor Sheremet, N L, Shmelkova, M S, Andreeva, N A, Zhorzholadze, N V, Fomin, A V, Krylova, T D, Tsygankova, P G

“…To investigate the features of various parameters of the density of retinal blood vessels, optic nerve head (ONH) and peripapillary region in hereditary optic…”
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Features of brain electrical activity in adult patients with POLG-related disorders Autor Fedin, P. A., Nuzhnyi, E. P., Noskova, T. Yu, Seliverstov, Yu. A., Klyushnikov, S. A., Krylova, T. D., Tsygankova, P. G., Zakharova, E. Yu, Illarioshkin, S. N.

“…Introduction. Epilepsy is a common feature of mitochondrial disorders, including those associated with mutations in the POLG gene. Nevertheless, brain…”
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Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia Autor Kurbatov, S. A., Tsygankova, P. G., Mollaeva, K. Yu, Bychkov, I. O., Itkis, Yu. S., Zabnenkova, V. V., Umakhanova, Z. R., Geybatova, L. G., Zakharova, E. Yu

“…Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases…”
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Previously unclassified mutation of mtDNA m.3472T>C: Evidence of pathogenicity in Leber’s hereditary optic neuropathy Autor Sheremet, N. L., Nevinitsyna, T. A., Zhorzholadze, N. V., Ronzina, I. A., Itkis, Y. S., Krylova, T. D., Tsygankova, P. G., Malakhova, V. A., Zakharova, E. Y., Tokarchuk, A. V., Panteleeva, A. A., Karger, E. M., Lyamzaev, K. G., Avetisov, S. E.

“…Leber’s hereditary optic neuropathy (LHON) refers to a group of mitochondrial diseases and is characterized by defects of the mitochondrial electron transport…”
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High-Resolution Respirometry in Diagnostics of Mitochondrial Diseases Caused by Mitochondrial Complex I Deficiency Autor Krylova, T. D., Tsygankova, P. G., Itkis, Y. S., Sheremet, N. L., Nevinitsyna, T. A., Mikhaylova, S. V., Zakharova, E. Y.

“…Mitochondrial complex I deficiency (CID) is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases…”
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High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency Autor Krylova, T D, Tsygankova, P G, Itkis, Yu S, Sheremet, N L, Nevinitsyna, T A, Mikhaylova, S V, Zakharova, E Yu

“…Complex I (CI) deficiency is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases. The group is…”
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DIFFERENTIAL DIAGNOSIS OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY. FIRST CLINICAL DESCRIPTION IN RUSSIA Autor Kurbatov, S. A., Fedotov, V. P., Tsygankova, P. G., Zakharova, E. Y., Lipovka, S. N.

“…Mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) is a rare autosomal recessive progressive multisystem disorder. Most of MNGIE is caused…”
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Modern opportunities and prospects for studying pathogenesis, diagnosing and treating hereditary optic neuropathies Autor Sheremet, N L, Khanakova, N A, Nevinitsyna, T A, Tsygankova, P G, Itkis, Iu S, Krylova, T D, Loginova, A N, Chukhrova, A L, Venkova, L S, Svistunova, D M, Chernoivanenko, I S, Zakharova, E Iu, Poliakov, A V, Minin, A A

“…To evaluate modern opportunities and prospects for studying pathogenesis and improving diagnostics and treatment of hereditary optic neuropathies (HON). The…”
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Molecular genetics and clinical aspects of monogenic diabetes mellitus Autor Peterkova, V A, Kuraeva, T L, Prokof'ev, S A, Emel'ianov, A O, Zakharova, E Iu, Tsygankova, P G, Grishina, D P

“…The paper is dedicated to clinical and laboratory aspects of Diabetes Mellitus non-immune forms, such as neonatal Diabetes Mellitus, Maturity Onset Diabetes of…”
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Syndrome Leigh caused by mutations in the SURF1 gene: clinical and molecular-genetic characteristics Autor Tsygankova, P G, Mikhaĭlova, S V, Zakharova, E Iu, Pichkur, N A, Il'ina, E S, Nikolaeva, E A, Rudenskaia, G E, Dadali, E L, Kolpakchi, L M, Fedoniuk, I D, Matiushchenko, G N

“…Syndrome Leigh (SL) or subacute necrotizing encephalomyelopathy - is a rare hereditary genetically heterogeneous disease from the group of mitochondrial…”
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New possibilities in diagnosis of hereditary optic neuropathies Autor Sheremet, N L, Krylova, T D, Tsygankova, P G

“…The study analyses data from clinical and genetic examination of 114 patients, as well as examination of cytological skin fibroblasts of 20 patients with…”
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Rare pathogenic nucleotide variants of mitochondrial DNA associated with Leber's hereditary optic neuropathy Autor Andreeva, N A, Murakhovskaya, Yu K, Krylova, T D, Tsygankova, P G, Sheremet, N L

“…Patients with Leber Hereditary Optic Neuropathy (LHON) in most cases have one of the three most common mutations: m.11778G>A in the gene, m.3460G>A in the…”
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Metabolic disorders in hereditary optic neuropathies Autor Sheremet, N L, Andreeva, N A, Zhorzholadze, N V, Murakhovskaya, Yu K, Shmelkova, M S, Krylova, T D, Tsygankova, P G

“…Folate metabolism disorders are known to have a potential involvement in the pathophysiology of mitochondrial diseases. Many researchers suggest that profound…”
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Hereditary optic neuropathy associated with demyelinating diseases of the central nervous system Autor Eliseeva, D D, Kalashnikova, A K, Bryukhov, V V, Andreeva, N A, Zhorzholadze, N V, Murakhovskaya, Yu K, Krilova, T D, Tsygankova, P G, Zakharova, M N, Sheremet, N L

“…Demyelinating optic neuritis and hereditary optic neuropathy (HON) take a leading place among the diseases, the leading clinical syndrome of which is bilateral…”
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