المؤلفون: M. M. Kudryavtseva, A. V. Kiseleva, R. P. Myasnikov, O. V. Kulikova, A. N. Meshkov, E. A. Mershina, R. K. Angarsky, Е. A. Sotnikova, M. G. Divashuk, A. A. Zharikova, S. N. Koretsky, D. A. Filatova, V. E. Sinitsyn, N. A. Sdvigova, V. I. Barsky, E. N. Basargina, O. M. Drapkina

المصدر: Кардиоваскулярная терапия и профилактика, Vol 21, Iss 12 (2023)

مصطلحات موضوعية: left ventricular non-compaction, dilated phenotype, isolated phenotype, tpm1, cardiomyopathy, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://cardiovascular.elpub.ru/jour/article/view/3471; https://doaj.org/toc/1728-8800; https://doaj.org/toc/2619-0125

URL الوصول: https://doaj.org/article/67bab5e29c354e2bbd78fca1a22a2182

المؤلفون: R. P. Myasnikov, A. V. Kulikova, A. N. Meshkov, E. A. Mershina, A. V. Kiseleva, M. V. Klimushina, M. G. Divashuk, O. V. Kurilova, P. S. Pilyus, M. S. Kharlap, S. N. Koretsky, O. M. Larina, V. E. Sinitsyn, L. A. Gandaeva, V. I. Barsky, E. N. Basargina, S. A. Boytsov, O. M. Drapkina

المصدر: Российский кардиологический журнал, Vol 25, Iss 10 (2020)

مصطلحات موضوعية: left ventricular non-compaction, hypertrophic cardiomyopathy, heart failure, sudden cardiac death, family forms, thromboembolism, acute cerebrovascular accident, mybpc3, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://russjcardiol.elpub.ru/jour/article/view/4115; https://doaj.org/toc/1560-4071; https://doaj.org/toc/2618-7620

URL الوصول: https://doaj.org/article/aa052b86ac63415ba12b5f05d4c973e4

المؤلفون: A. S. Chukanova, M. A. Tushkanov, V. I. Barsky, I. K. Grazhdan, E. V. Cricova, M. G. Aksenova, S. G. Burd, E. I. Gusev

المصدر: Эпилепсия и пароксизмальные состояния, Vol 3, Iss 2, Pp 45-54 (2016)

مصطلحات موضوعية: pharmacogenetics of epilepsy, topiramate side effects, sert, trn2, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.epilepsia.su/jour/article/view/217; https://doaj.org/toc/2077-8333; https://doaj.org/toc/2311-4088

URL الوصول: https://doaj.org/article/b73578ad361d462c86e8402877d30827

المؤلفون: L. A. Gandaeva, O. B. Kondakova, E. N. Basargina, A. A. Pushkov, N. N. Koloskova, O. P. Zharova, V. I. Barsky, A. P. Fisenko, K. V. Savostyanov, Л. А. Гандаева, О. Б. Кондакова, Е. Н. Басаргина, А. А. Пушков, Н. Н. Колоскова, О. П. Жарова, В. И. Барский, А. П. Фисенко, К. В. Савостьянов

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 67, № 2 (2022); 132-141 ; Российский вестник перинатологии и педиатрии; Том 67, № 2 (2022); 132-141 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: p.H383R, WPW syndrome, hypertrophic cardiomyopathy, p.R302Q, синдром WPW, гипертрофическая кардиомиопатия

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1630/1232; Porto A., Brun F., Severini G., Losurdo P., Fabris E., Taylor M. et al. Clinical Spectrum of PRKAG2 Syndrome. Circ Arrhythm Electrophysiol 2016; 9: e003121. DOI: 10,1161/CIRCEP.115,003121; Леонтьева И.В., Николаева Е.А. Кардиомиопатии при врожденных нарушениях метаболизма у детей. Российский вестник перинатологии и педиатрии 2016; 61(2): 17–27. DOI: 10,21508/1027–4065–2016–61–2–17–27; Murphy R.T., Mogensen J., McGarry K., Bahl A., Evans A., Osman E. et al. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff– Parkinson–White syndrome: Natural history. J Am CollCardiol 2005; 45: 922–930. DOI: 10,1016/j.jacc.2004.11.053; Hu D., Hu D., Liu L., Barr D., Liu Y., Balderrabano-Saucedo N. et al. Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease. EBioMedicine 2020; 54: 102723. DOI: 10,1016/j.ebiom.2020,102723; Gollob M.H., Green M.S., Tang A.S., Gollob T., Karibe A., Ali Hassan A.S. et al. Identification of a gene responsible for familial Wolff– Parkinson–White syndrome. N Engl J Med 2001; 344: 1823–1831. DOI: 10,1056/NEJM200106143442403; Arad M., Maron B.J., Gorham J.M., Johnson Jr W.H., Saul J. P., Perez-Atayde A.R. et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352: 362–72. DOI: 10,1056/NEJMoa033349; Arad M., Benson W.D., Perez-Atayde A.R., McKenna W.J., Sparks E.A., Kanter R.J. et al. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 2002; 109(3): 357–362. DOI: 10,1172/JCI14571; Burwinkel B., Scott J.W., Bührer C., van Landeghem F. K. H., Cox G. F., Wilson C. J. et al. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet 2005; 76: 1034–1049. DOI: 10,1086/430840; Pöyhönen P., Hiippala A., Ollila L., Kaasalainen T., Hänninen H., Heliö T. et al. Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations. J Cardiovasc Magn Reson 2015; 17: 89. DOI: 10,1186/s12968–015–0192–3; Maron B.J., Casey S.A., Hurrell D.G., Aeppli D.M. Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy. J Cardiol 2003; 91(10): 1195–1198. DOI: 10,1016/S0002–9149(03)00266–2; Савостьянов К.В., Намазова-Баранова Л.С., Басаргина Е.Н., Вашакмадзе Н.Д., Журкова Н.В., Пушков А.А. Новые варианты генома российских детей с генетически обусловленными кардиомиопатиями, выявленные методом массового параллельного секвенирования. Вестник Российской академии медицинских наук 2017; 72 (4): 242–253. DOI: 10,15690/vramn872; Lopez-Sainz A., Dominguez F., Lopes L.R., Ochoa J.P., BarrialesVilla R., Climent V. et al.; European Genetic Cardiomyopathies Initiative Investigators. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis. J Am Coll Cardiol 2020; 76(2): 186–197. DOI: 10,1016/j.jacc.2020.05.029. PMID: 32646569; Banankhah P., Fishbein G.A., Dota A., Ardehali R. Cardiac manifestations of PRKAG2 mutation. BMC Medical Genetics 2018; 19: 1. DOI: 10,1186/s12881–017–0512–6; Blair E., Redwood C., Ashrafian H., Oliveira M., Broxholme J., Kerr B. et al. Mutations in the gamma2 subunit of AMPactivated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum Molecul Genet 2001; 10(11): 1215–1220. 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DOI: 10,1056/NEJMoa075463; Akman H.O., Sampayo J.N., Ross F.A., Scott J.W., Wilson G., Benson L. et al. Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase. Pediatr Res 2007; 62: 499–504. DOI: 10,1203/PDR.0b013e3181462b86; Sri A., Daubeney P., Prasad S., Baksi J., Kinali M., Voges I. A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations. Case Report Pediatr 2019: 7640140. DOI: 10,1155/2019/7640140; https://www.ped-perinatology.ru/jour/article/view/1630

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1630
https://doi.org/10.21508/1027-4065-2022-67-2-132-141

المؤلفون: L. A. Gandaeva, E. N. Basargina, O. P. Zharova, K. A. Zubkova, A. A. Pushkov, V. G. Kaverina, V. I. Barsky, A. P. Fisenko, K. V. Savostyanov, Л. А. Гандаева, Е. Н. Басаргина, О. П. Жарова, К. А. Зубкова, А. А. Пушков, В. Г. Каверина, В. И. Барский, А. П. Фисенко, К. В. Савостьянов

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 3 (2021); 110-117 ; Российский вестник перинатологии и педиатрии; Том 66, № 3 (2021); 110-117 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2021-66-3

مصطلحات موضوعية: гипертрофический фенотип, Danone disease, LAMP2, cardiomyopathy, dilated phenotype, hypertrophic phenotype, болезнь Данон, кардиомиопатия, дилатационный фенотип

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1416/1101; Boucek D., Jirikowic J., Taylor M. Natural history of Danon disease. Genet Med 2011; 13(6): 563–568. DOI:10.1097/GIM.0b013e31820ad795; Endo Y., Furuta A., Nishino I. Danon disease: a phenotypic expression of LAMP-2 deficiency. Acta Neuropathol 2015; 129(3): 391–398. DOI:10.1007/s00401-015-1385-4.; Леонтьева И.В., Царегородцев Д.А. Болезнь Данона как причина гипертрофической кардиомиопатии. Российский вестник перинатологии и педиатрии 2015; 60(3): 26–30. [Leontyeva I.V., Tsaregorodtsev D.A. Danon’s disease as a cause of hypertrophic cardiomyopathy. Rossiyskiy vestnik perinatologii i pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2015; 60(3): 26–30. (In Russ.)]; Rowland T.J., Sweet M.E., Mestroni L., Taylor M.R.G. Danon disease – dysregulation of autophagy in a multisystem disorder with cardiomyopathy. J Cell Sci 2016; 129: 2135–2143. DOI:10.1242/jcs.184770.; Human Gene Mutation Database. http://www.hgmd.cf.ac.uk/ac/index.php Ссылка активна активна на 05.04.2021.; D’souza R.S., Levandowski C., Slavov D., Graw S.L, Allen L.A., Adler E. et al. Danon Disease: Clinical Features, Evaluation, and Management. Circ Heart Fail 2014; 7(5): 843–849. DOI:10.1161/CIRCHEARTFAILURE.114.001105.; Nishino I., Fu J., Tanji K., Yamada T., Shimojo S., Koori T. et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). J Nature 2000: 24; 406(6798): 906–10. DOI:10.1038/35022604; Danon M.J., Oh S.J., DiMauro S., Manaligod J.R., Eastwood A., Naidu S., Schliselfeld L.H. Lysosomal glycogen storage disease with normal acid maltase. Neurology1981; 31(1): 51–7. DOI:10.1212/wnl.31.1.51.; Gersh B.J., Maron B.J., Bonow R.O., Dearani J.A., Fifer M.A., Link M.S. et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation 2011; 124(24): 2761–2796. DOI:10.1161/CIR.0b013e318223e230; Bertini E., Donati M.A., Broda P., Cassandrini D., Petrini S., Dionisi-Vici C. et al. Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. Neuropediatrics 2005; 36(5): 309–13. DOI:10.1055/s-2005-872844.; Arad M., Maron B.J., Gorham J.M., Johnson W.H. Jr., Saul J.P., Perez Atayde A.R. et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 2005; 352(4): 362–372. DOI:10.1056/NEJMoa033349.; Lipshultz S.E., Law Y.M., Asante-Korang A., Austin E.D., Dipchand A.I., Everitt M.D. et al. Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association. Circulation 2019; 140(1): e9–e68. DOI:10.1161/CIR.0000000000000682.; Sugie K., Yamamoto A., Murayama K., Oh S.J., Takahashi M., Mora M. et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002; 58(12): 1773–8. DOI:10.1212/wnl.58.12.1773; Maron B.J., Roberts W.C., Arad M., Haas T.S., Spirito P., Wright G.B. et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA.2009; 301(12): 1253–9. DOI:10.1001/jama.2009.371.; Marriott H.J. Electrocardiographic abnormalities, conduction disorders and arrhythmias in primary myocardial disease. Prog Cardiovasc Dis 1964; 7: 99–114. DOI:10.1016/S0033-0620(64)80013-X.; Nucifora G., Miani D., Piccoli G., Proclemer A. Cardiac Magnetic Resonance Imaging in Danon Disease. Cardiology 2012; 121(1): 27–30. DOI:10.1159/000336448.; Dara B.S., Rusconi P.G., Fishman J.E. Danon disease: characteristic late gadolinium enhancement pattern on cardiac magnetic resonance imaging. Cardiol Young 2011; 21(06): 707–709. DOI:10.1017/s1047951111000564.; Rigolli M., Kahn A., Brambatti M., Contijoch F., Adler E. Cardiomyopathy characterization and risk stratification by cardiac magnetic resonance in danon disease. J Am Coll Cardiol 2020; 75 (11 Supplement 1): 1681. DOI:10.1016/S0735-1097(20)32308-1; Леонтьева И.В., Царегородцев Д.А. Лизосом-ассоциированная гипертрофическая кардиомиопатия (болезнь Данона) у двух сибсов. Российский вестник перинатологии и педиатрии 2015; 60(4): 75–82. [Leontyeva I.V., Tsaregorodtsev D.A. Lysosome-associated hypertrophic cardiomyopathy (Danon’s disease) in two siblings. Rossiyskiy vestnik perinatologii i pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2015; 60(4): 75–81. (In Russ.)]; Stevens-Lapsley J.E., Kramer L.R., Balter J.E., Jirikowic J., Boucek D., Taylor M. Functional performance and muscle strength phenotypes in men and women with Danon disease. Muscle Nerve 2010; 42(6): 908–14. DOI:10.1002/mus.21811; Charron P., Villard E., Sébillon P., Laforêt P., Maisonobe T., Duboscq-Bidot L. et al. Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey. Heart 2004; 90(8): 842–846. DOI:10.1136/hrt.2003.029504; Schorderet D.F., Cottet S., Lobrinus J.A., Borruat F.X., Balmer A., Munier F.L. Retinopathy in Danon disease. Arch Ophthalmol 2007; 125(2): 231–6. DOI:10.1001/archopht.125.2.231; Bui Q.M., Brambatti M., Escobedo V., Nguyen N., Covarrubias E., Teng D. et al. Longitudinal echocardiographic findings of Danon disease: insights from a global registry. JACC 2019; 73(9): 983. DOI:10.1016/S0735-1097(19)31590-6; Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б., Коновалов Ф.А., Масленников А.Б., Степанов В.А. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика 2019; 18(2): 3–23. [Ryzhkova O.P., Cardimon O.L., Prokhorchuk E.B., Konovalov F.A., Maslennikov A.B., Stepanov V.A. Guidelines for the Interpretation of Human DNA Sequence Data Obtained by Mass Parallel Sequencing Methods (edition 2018, version 2). Meditsinskaya genetika 2019; 18(2): 3–23. (In Russ.)] DOI:10.25557/2073-7998.2019.02.3-23; https://www.ped-perinatology.ru/jour/article/view/1416

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1416
https://doi.org/10.21508/1027-4065-2021-66-3-110-117

المؤلفون: I. K. Grazhdan, M. G. Aksyonova, F. Yu. Kopylov, V. I. Barsky, A. V. Kirillov, O. B. Kozlova

المصدر: Kardiologiya i serdechno-sosudistaya khirurgiya. 9:58

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine.disease, 030227 psychiatry, Coronary artery disease, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Genotype, medicine, Anxiety, Surgery, medicine.symptom, Cardiology and Cardiovascular Medicine, Association (psychology), Psychiatry, business, Receptor, 030217 neurology & neurosurgery, Depression (differential diagnoses)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bcbcdf4831bf2c3b015c04f996c740e9
https://doi.org/10.17116/kardio20169158-68

المؤلفون: M. G. Aksyonova, A. V. Kirillov, F. Yu. Kopylov, V. I. Barsky, I. K. Grazhdan

المصدر: Kardiologiya i serdechno-sosudistaya khirurgiya. 8:31

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, medicine, Cardiology, Surgery, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::013609f69155571e820ef7db3d433218
https://doi.org/10.17116/kardio20158631-38