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1Academic Journal
المؤلفون: E. K. Erokhina, K. V. Shamtieva, E. A. Melnik, D. O. Kazakov, S. A. Kurbatov, E. P. Pavlikova, O. A. Tikhonova, E. A. Mershina, V. E. Sinitsyn, D. V. Vlodavets
المصدر: Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
مصطلحات موضوعية: myotonic dystrophy type 1, cognitive impairment, emotional disturbances, neuroimaging, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2Academic Journal
المؤلفون: O. E. Zinovyeva, N. D. Samkhaeva, I. M. Vikhlyantsev, A. D. Ulanova, G. Z. Mikhailova, N. S. Shcheglova, D. O. Kazakov, A. Yu. Emelyanova, A. M. Nosovsky
المصدر: Неврология, нейропсихиатрия, психосоматика, Vol 11, Iss 1, Pp 21-27 (2019)
مصطلحات موضوعية: chronic alcoholic myopathy, insulin-like growth factor-1, magnetic resonance imaging of hip skeletal muscles, titin isoforms, nebulin, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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3Academic Journal
المصدر: Современная ревматология, Vol 13, Iss 1, Pp 95-100 (2019)
مصطلحات موضوعية: magnetic resonance imaging, idiopathic inflammatory myopathies, dermatomyositis, polymyositis, sporadic inclusion body myositis, immune-mediated necrotizing myopathy, limb-girdle muscular dystrophies, Medicine
وصف الملف: electronic resource
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4Academic Journal
المصدر: Медицинский совет, Vol 0, Iss 11, Pp 86-91 (2016)
مصطلحات موضوعية: chronic alcohol intoxication, drunkenness, alcoholic polyneuropathy, alcoholic myopathy, Medicine
وصف الملف: electronic resource
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5Academic Journal
المؤلفون: T. I. Baranich, S. B. Artemyeva, N. V. Kleimenova, L. A. Khavkhun, D. V. VIodavets, D. O. Kazakov, P. A. Shatalov, E. B. Litvinova, I. V. Shulyakova, A. V. Brydun, V. V. Glinkina, V. S. Sukhorukov, Т. И. Баранич, С. Б. Артемьева, Н. В. Клейменова, Л. А. Хавхун, Д. В. Влодавец, Д. О. Казаков, П. А. Шаталов, Е. Б. Литвинова, И. В. Шулякова, А. В. Брыдун, В. В. Глинкина, В. С. Сухоруков
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 60, № 4 (2015); 69-74 ; Российский вестник перинатологии и педиатрии; Том 60, № 4 (2015); 69-74 ; 2500-2228 ; 1027-4065 ; undefined
مصطلحات موضوعية: терапия, limb-girdle muscular dystrophies, calpainopathy, LGMD2A, pathogenesis, therapy, конечностно-поясные мышечные дистрофии, кальпаинопатия, патогенез
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/138/179; Nadaj-Pakleza A.A., DorobekM., Nestorowicz, К. etal. Muscle pathology in 31 patients with calpain 3 gene mutations. Neural Neurochir Pol 2013; 47: 3: 214-222.; CottaA., Carvalho E., da-Cunha-Janior A.L. etal. Common recessive limb girdle muscular dystrophies differential diagnosis: why and how? Arq Neuropsiquiatr 2014; 72: 9: 721—734.; Angelini C, Nardetto L., Borsato C. et al. The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurol Res 2010; 32: 41-46.; Fanin M., NascimbeniA.C, Fulizio L. et al. Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression. Am J Pathol 2003; 163: 1929-1936.; Roudaut C, Le Roy F., Suel L. et al. Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation 2013; 128: 10: 1094-1104.; Hashiguchi S., Adachi K, Inui T. et al. A clinicopatho-logical investigation of two autopsy cases of calpainopathy (LGMD2A). Brain Nerve 2014; 66: 9: 1097-1102.; Влодавец Д.В., Казаков Д. О. Диагностические возможности МРТ мышц при нервно-мышечных заболеваниях. Неврол журн 2014; 19: 3: 4-12. (Vlodavets D.V., Kaza-kov D.O. The diagnostic potential of muscle MRI in neuro-muscular diseases. Nevrol zhurn 2014; 19: 3: 4—12).; Suzuki K., Hata S., Kawabata Y, Sorimachi H. Structure, activation, and biology of calpain. Diabetes 2004; 53: Suppl 1:12—18.; Hauerslev S., Sveen M.L., Duno M. et al. Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. BMC Musculoskelet Disord 2012; 13: 43.; KramerovaL, KudryashovaE., Tidball J.G., Spencer M/. Null mutation of calpain 3 (p94) in mice causes abnormal sarco-mere formation in vivo and in vitro. Hum Mol Genet 2004; 13: 1373-1388.; OjimaK, Kawabata Y, Nakao H. et al. Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy. J Clin Invest 2010; 120:2672-2683.; 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: 503-511.; Schmidt W.M., Uddin M.H., Dysek S. et al. DNA Damage, Somatic Aneuploidy, and Malignant Sarcoma Susceptibility in Muscular Dystrophies. PLoS Genet 2011; 7: 4: el002042."; BaumeisterS.K, Todorovic S., Mili -Rasi V. et al. Eosinophilic myositis as presenting symptom in gamma-sarcoglycanopa-thy. Neuromuscul Disord 2009; 19: 167-171.; Weinstock A., Green C, Cohen B.H. et al. Becker muscular dystrophy presenting as eosinophilic inflammatory myopathy in an infant. J Child Neurol 1997; 12: 146-147.; CantariniL., Volpi N., CarbottiP. et al. Eosinophilia-associat-ed muscle disorders: an immunohistological study with tissue localization of major basic protein in distinct clinicopatho-logical forms. J Clin Pathol 2009; 62: 442-447.; Schroder Т., Fuchss J., Schneider I. et al. Eosinophils in hereditary and inflammatory myopathies. Acta Myol 2013; 32: 3: 148-153.; 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.; Spencer M.J., GuyonJ.R., Sorimachi H. etal. Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation. Proc Natl Acad Sci USA 2002; 99: 8874-8879.; Hayashi C, Ono Y, Doi N. et al. Multiple molecular interactions implicate the connectin/titin N2A region as a modulating scaffold for p94/calpain 3 activity in skeletal muscle. J Biol Chem2008; 283: 14801-14814.; Duguez S., Bartoli M., Richard I. Calpain 3: a key regulator of the sarcomere? FEBS J 2006; 273: 3427-3436.; Beckmann J.S., Spencer M. Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. Neuromuscul Disord 2008; 18: 913-921.; https://www.ped-perinatology.ru/jour/article/view/138; undefined
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المؤلفون: D. O. Kazakov, G. Z. Mikhailova, Ivan M. Vikhlyantsev, N. D. Samkhaeva, N. S. Shcheglova, A. Yu. Emelyanova, O. E. Zinovyeva, A. M. Nosovsky, A. D. Ulanova
المصدر: Nevrologiâ, Nejropsihiatriâ, Psihosomatika, Vol 11, Iss 1, Pp 21-27 (2019)
مصطلحات موضوعية: Muscle tissue, medicine.medical_specialty, Sarcomere, chronic alcoholic myopathy, Nebulin, titin isoforms, Internal medicine, medicine, Myopathy, RC346-429, Anterior compartment of thigh, biology, business.industry, Muscle weakness, nebulin, Quadriceps femoris muscle, magnetic resonance imaging of hip skeletal muscles, Psychiatry and Mental health, Clinical Psychology, insulin-like growth factor-1, Endocrinology, medicine.anatomical_structure, biology.protein, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, business, Muscle contraction
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7
المؤلفون: N. D. Samhaeva, Boris Shenkman, A. M. Nosovskii, O. V. Turtikova, O. E. Zinovyeva, T. L. Nemirovskaya, D. O. Kazakov
المصدر: Human Physiology. 44:356-359
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Physiology, business.industry, Chronic alcoholic, Magnetic resonance imaging, medicine.disease, Contractile apparatus, Muscle atrophy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Alcohol intoxication, Atrophy, Physiology (medical), Medicine, medicine.symptom, business, Myopathy, human activities, 030217 neurology & neurosurgery, Early onset