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1Academic Journal
Authors: H.V. Palahuta, V.I. Smolanka, I.Yu. Dutka
Source: INTERNATIONAL NEUROLOGICAL JOURNAL; Том 16, № 2 (2020); 13-17
МЕЖДУНАРОДНЫЙ НЕВРОЛОГИЧЕСКИЙ ЖУРНАЛ; Том 16, № 2 (2020); 13-17
МІЖНАРОДНИЙ НЕВРОЛОГІЧНИЙ ЖУРНАЛ; Том 16, № 2 (2020); 13-17Subject Terms: МРТ м'язів, кінцівково-поясна м'язова дистрофія, генетика, специфічні патерни ураження м'язів, МРТ мышц, конечностно-поясная мышечная дистрофия, специфические паттерны поражения мышц, muscle magnetic resonance imaging, limb-girdle muscular dystrophy, genetics, specific patterns of muscle damage
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2Academic Journal
Authors: H.V. Palahuta, O.Ye. Fartushna
Source: INTERNATIONAL NEUROLOGICAL JOURNAL; Vol. 16 No. 8 (2020); 43-47
МЕЖДУНАРОДНЫЙ НЕВРОЛОГИЧЕСКИЙ ЖУРНАЛ; Том 16 № 8 (2020); 43-47
МІЖНАРОДНИЙ НЕВРОЛОГІЧНИЙ ЖУРНАЛ; Том 16 № 8 (2020); 43-47Subject Terms: магнітно-резонансна томографія м'язів, specific patterns of muscle damage, limb-girdle muscular dystrophy, magnetic resonance imaging of muscles, конечностно-поясная мышечная дистрофия, кінцівково-поясна м'язова дистрофія, магнитно-резонансная томография мышц, 3. Good health, 03 medical and health sciences, специ-фические паттерны поражения мышц, 0302 clinical medicine, генетика, genetics, специфічні патерни ураження м'язів
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Access URL: http://inj.zaslavsky.com.ua/article/download/221960/223983
http://inj.zaslavsky.com.ua/article/view/221960
https://cyberleninka.ru/article/n/the-role-of-magnetic-resonance-imaging-of-muscles-in-the-differential-diagnosis-of-certain-forms-and-subtypes-of-limb-girdle
http://inj.zaslavsky.com.ua/article/view/221960 -
3Academic Journal
Authors: D. A. Kharlamov, T. I. Baranich, O. S. Groznova, Д. А. Харламов, Т. И. Баранич, О. С. Грознова
Source: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 59, № 1 (2014); 28-33 ; Российский вестник перинатологии и педиатрии; Том 59, № 1 (2014); 28-33 ; 2500-2228 ; 1027-4065 ; undefined
Subject Terms: лечение, progressive muscular dystrophies, Duchenne muscular dystrophy, limb-girdle muscular dystrophy, facial scapulohumeral muscular dystrophy, mitochondrion, oxidative stress, pathogenesis, treatment, прогрессирующие мышечные дистрофии, модистрофия Дюшенна, конечностно-поясная мышечная дистрофия, лице-лопаточно-плечевая мышечная дистрофия, митохондрия, окислительный стресс, патогенез
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Relation: https://www.ped-perinatology.ru/jour/article/view/29/53; Лисицын Ю.П. История медицины. М: ГЭОТАР-Медиа 2011; 381. (Lisitsyn Yu.P. History of Medicine. M: GEHOTАR-Media 2011; 381.); Mϋller-Höcker J., Pongratz D., Hϋbner G. Activation of mitochondrial ATPase as evidence of loosely coupled oxidative phosphorylation in various skeletal muscle disorders. A histochemical fine-structural study. J Neurol Sci 1986; 74: 2—3: 199—213.; Afifi A.K., Bergman R.A., Zellweger H. A possible role for electron microscopy in detection of carries of Duchenne type muscular dystrophy. Journal of neurology. Neurosurgery and Psychiatry 1973; 36: 4: 643—650.; Cullen M.J., Fulthorpe J.J. Stages in fibre breakdown in Duchenne muscular dystrophy. An electron-microscopic study. J Neurol Sci 1975; 24: 2: 179—200.; Бадалян Л.О., Аманова З.Н., Темин П.А. и др. Митохондриальная моноаминоксидаза при прогрессирующей мышечной дистрофии Дюшенна. Вопр мед химии 1985; 34: 1: 68—71. (Badalyan L.O., Аmanova Z.N., Temin P.А. et al. Mitochondrial monoamine oxidase in progressive Duchenne muscular dystrophy. Vopr med khimii 1985; 34: 1: 68—71.); Le Borgne F., Guyot S., Logerot M. et al. Exploration of lipid metabolism in relation with plasma membrane properties of Duchenne muscular dystrophy cells: influence of L-carnitine. PLoS One 2012; 7: 11: 49346; Percival J.M., Siegel M.P., Knowels G. et al. Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition. Hum Mol Genet 2013; 1: 22: 1: 153—167.; Viola H.M., Davies S.M., Filipovska A. et al. L-type Ca(2+) channel contributes to alterations in mitochondrial calcium handling in the mdx ventricular myocyte. Am J Physiol Heart Circ Physiol 2013; 15: 304: 6: 767—775.; Rasola A., Bernardi P. Mitochondrial permeability transition in Ca(2ю)-dependent apoptosis and necrosis. Cell Calcium 2011; 50: 3: 222—233.; Angelin A., Tiepolo T., Sabatelli P. et al. Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proc Natl Acad Sci 2007; 104: 3: 991—996.; Baghdiguian S., Martin M., Richard I. et al. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Nat Med 1999; 5: 5: 503—511.; Reutenauer J., Dorchies O.M., Patthey-Vuadens O. et al. Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy. Br J Pharmacol 2008; 55: 4: e 574—584.; Wrogemann K., Pena S.D. Mitochondrial calcium overload: A general mechanism for cell-necrosis in muscle diseases. Lancet 1976; 27: 1(7961): 672—674.; Millay D.P., Sargent M.A., Osinska H. et al. Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy. Nat Med 2008; 14: 4: 442—447.; Wissing E.R., Millay D.P., Vuagniaux G. et al. Debio-025 is more effective than prednisone in reducing muscular pathology in mdx mice. Neuromuscul Disord 2010; 20: 11: 753—760.; Pellegrini C., Zulian A., Gualandi F. et al. Melanocytes-a novel tool to study mitochondrial dysfunction in Duchenne muscular dystrophy. J Cell Physiol 2013; 228:6: 1323—1331.; Giacomotto J., Brouilly N., Walter L. et al. Chemical genetics unveils a key role of mitochondrial dynamics, cytochrome c release and IP3R activity in muscular dystrophy. Hum Mol Genet 2013; 15: 22: 4562—4578.; Baltgalvis K. A., Jarrod A., Call J.A. et al. Exercise Training Improves Plantarflexor Muscle Function in mdx Mice. Med Sci Sports Exerc 2012; 44: 9: 1671—1679.; Ferraresi C., Hamblin M.R., Parizotto N.A. Low-level laser (light) therapy (LLLT) on muscle tissue: performance, fatigue and repair benefited by the power of light. Photonics Lasers Med 2012; 1: 4: 267—286.; Buyse G.M., Van der Mieren G., Erb M. et al. Long-term blinded placebo-controlled study of SNT-MC17/idebenone in the dystrophin deficient mdx mice: cardiac protection and improved exercise performance. Eur Heart J 2009; 30: 1: 116—124.; Buyse G.M., Goemans N., van den Hauwe M. et al. Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: results from a 12 month, double-blind, randomized placebo-controlled trial. Neuromuscul Disord 2011; 21: 6: 396—405.; Buyse G.M., Goemans N., van den Hauwe M. et al. Effects of glucocorticoids and idebenone on respiratory function in patients with duchenne muscular dystrophy. Pediatr Pulmonol 2013; 48: 9: 912—920.; Bisceglia L., Zoccolella S., Torraco A. et al. A new locus on 3p23—p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. Eur J Hum Genet 2010; 18: 6: 636—641.; Hadj Salem I., Kamoun F., Louhichi N. et al. Impact of singlenucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients. Mol Biol Rep 2012; 39: 7: 7479—7486.; Kramerova I., Kudryashova E., Wu B. et al. Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle. Hum Mol Genet 2009; 18: 17: 3194—3205.; Hicks D., Lampe A.K., Laval S.H. Сyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain 2009; 132: 1: 147—155.; Turki A., Hayot M., Carnac G. et al. Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction. Free Radic Biol Med 2012; 53: 5: 1068—79.; Lefkowitz D.L., Lefkowitz S.S. Fascioscapulohumeral muscular dystrophy: a progressive degenerative disease that responds to diltiazem. Med Hypotheses 2005; 65: 4: 716—721.; Сухоруков В.С. Очерки митохондриальной патологии. М: Медпрактика-М 2011; 288. (Sukhorukov V.S. Study of mitochondrial pathology. M: Medpraktika-M 2011; 288.); undefined
Availability: https://www.ped-perinatology.ru/jour/article/view/29
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4Academic Journal
Subject Terms: ламинопатии, ген LMNA, конечностно-поясная мышечная дистрофия, мутации, мышечная дистрофия Эймери-Дрейфуса, дилатационная кардиомиопатия
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Access URL: https://elib.belstu.by/handle/123456789/21342
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5Academic Journal
Subject Terms: ламинопатии, ген LMNA, конечностно-поясная мышечная дистрофия, мутации, мышечная дистрофия Эймери-Дрейфуса, дилатационная кардиомиопатия
File Description: application/pdf
Access URL: https://openrepository.ru/article?id=30472
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6Academic Journal
Authors: N. A. Shnayder, T. Ya. Nikolayeva, E. N. Boroeva, G. M. Pshennikova, N. V. Luginov, Yu. S. Panina, Н. А. Шнайдер, Т. Я. Николаева, Е. Н. Бороева, Г. М. Пшенникова, Н. В. Лугинов, Ю. С. Панина
Source: Neuromuscular Diseases; № 1 (2013); 46-61 ; Нервно-мышечные болезни; № 1 (2013); 46-61 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2013-0-1
Subject Terms: магнитно-резонансная томография мышц, Erb's muscular dystrophy, limb-girdle muscular dystrophy, progressive muscular dystrophy, myotilinopathy, laminopathy, caveolinopathy, human genetics, cardiomyopathy, muscle magnetic resonance imaging, мышечная дистрофия Эрба, конечностно-поясная мышечная дистрофия, прогрессирующая мышечная дистрофия, миотилинопатия, ламинопатия, кавеолинопатия, генетика человека, кардиомиопатия
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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. Neurology 2012;78:897– 903.; Bushby K.M. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875–82.; van der Kooi A.J., Frankhuizen W.S., Barth P.G. et al. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007;68(24):2125–8.; Lo H.P., Cooper S.T., Evesson F.J. et al. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord 2008;18(1):34–44.; Stensland E., Lindal S., Jonsrud C. et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuromuscul Disord 2011;21(1):41–6.; Urtasun M., Saenz A., Roudaut C. et al. Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Brain 1998;121(Pt 9):1735–47.; Sveen M.L., Schwartz M., Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006;59(5):808–15.; Kirschner J., Lochmuller H. Sarcoglycanopathies. Handb Clin Neurol 2011;101:41–46.; Nalini A., Gayathri N., Thaha F. et al. Sarcoglycanopathy: clinical and histochemical characteristics in 66 patients. Neurol India 2010;58(5):691–6.; Vainzof M., Passos-Bueno M.R., Pavanello R.C. et al. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999;164:44–9.; Passos-Bueno M.R., Vainzof M., Moreira E.S., Zatz M. Seven autosomal recessive limbgirdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet 1999;82(5):392–8.; Hackman P., Juvonen V., Sarparanta J. et al. Enrichment of the R77C alphasarcoglycan gene mutation in Finnish LGMD2D patients. Muscle Nerve 2005;31:199–204.; Angelini C., Fanin M., Freda M.P. et al. 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Caveolinopathy – new mutations and additional symptoms. Neuromuscul Disord 2008;18(7):572–8.; Fulizio L., Nascimbeni A.C., Fanin M. et al. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat 2005;25(1):82–9.; Hackman P., Sandell S., Sarparanta J. et al. Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus. Neuromuscul Disord 2011;21(5):338–44.; Messina D.N., Speer M.C., Pericak-Vance M.A. et al. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997;61(4):909–17.; Palenzuela L., Andreu A.L., Gamez J. et al. A novel autosomal dominant limbgirdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 2003;61(3):404–6.; Starling A., Kok F., Passos-Bueno M.R. et al. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004;12(12):1033–40.; Bisceglia L., Zoccolella S., Toracco A. et al. A new locus on 3p23-p25 for an autosomal dominant limb-girdle muscular dystrophy, LGMD1H. Europ J Hum Genet 2010;18:636–41.; Muchir A., Bonne G., van der Kooi A.J. et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000;9(9):1453–9.; Kramerova I., Beckmann J.S., Spencer M.J. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). Biochim Biophys Acta 2007;1772(2):128–44.; Mendell J.R., Rodino-Klapac L.R., Rosales X.Q. et al. Sustained alphasarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann Neurol 2010;68(5):629–38.; Nigro V., de Sa Moreira E., Piluso G. et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. 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7Academic Journal
Authors: Стучевская, Тима, Затаковенко, Сергей, Посохина, Оксана, Мавиди, Ирина, Митрофанова, Людмила, Руденко, Дмитрий, Казаков, Валерий
Subject Terms: КОНЕЧНОСТНО-ПОЯСНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, МИОТОНИЧЕСКАЯ ДИСТРОФИЯ 2, ПРОКСИМАЛЬНАЯ МИОТОНИЧЕСКАЯ МИОПАТИЯ
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8Academic Journal
Authors: Шнайдер, Н., Николаева, Т., Бороева, Е., Пшенникова, Г., Лугинов, Н., Панина, Ю.
Subject Terms: НЕРВНО-МЫШЕЧНЫЕ БОЛЕЗНИ, МЫШЕЧНАЯ ДИСТРОФИЯ ЭРБА, КОНЕЧНОСТНО-ПОЯСНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, ПРОГРЕССИ-РУЮЩАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, МИОТИЛИНОПАТИЯ, ЛАМИНОПАТИЯ, КАВЕОЛИНОПАТИЯ, ГЕНЕТИКА ЧЕЛОВЕКА, КАРДИОМИОПАТИЯ, МАГ-НИТНО-РЕЗОНАНСНАЯ ТОМОГРАФИЯ МЫШЦ, ERB''S MUSCULAR DYSTROPHY
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9Academic Journal
Source: Неврологический журнал.
Subject Terms: КОНЕЧНОСТНО-ПОЯСНАЯ МЫШЕЧНАЯ ДИСТРОФИЯ, МИОТОНИЧЕСКАЯ ДИСТРОФИЯ 2, ПРОКСИМАЛЬНАЯ МИОТОНИЧЕСКАЯ МИОПАТИЯ, 3. Good health
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10Academic Journal
Source: Нервно-мышечные болезни.
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11Academic Journal
Authors: Сивицкая, Л. Н., Даниленко, Н. Г., Вайханская, Т. Г., Курушко, Т. В., Шимкевич, Андрей Михайлович, Давыденко, О. Г.
Subject Terms: ген LMNA, мутации, ламинопатии, дилатационная кардиомиопатия, конечностно-поясная мышечная дистрофия, мышечная дистрофия Эймери-Дрейфуса
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Availability: https://openrepository.ru/article?id=30472
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12Electronic Resource
