المؤلفون: Sergey N. Bardakov, Angelina A. Titova, Sergey S. Nikitin, Valentin Nikitins, Margarita O. Sokolova, Vadim A. Tsargush, Elena A. Yuhno, Oleg V. Vetrovoj, Pierre G. Carlier, Yana V. Sofronova, Аrtur А. Isaev, Roman V. Deev

المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Contractures, DYSF, Dysferlinopathy, Limb-girdle muscle dystrophy R2, Spine rigidity, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2474

URL الوصول: https://doaj.org/article/33b3ec8b75d34bd1862d731412b97b9a

المؤلفون: Sergey N. Bardakov, Roman V. Deev, Аrtur А. Isaev, Nikita N. Khromov‐Borisov, Evgeniy D. Kopylov, Мaria R. Savchuk, Maxim S. Pushkin, Evgeniy V. Presnyakov, Raisat M. Magomedova, Patimat G. Achmedova, Zoya R. Umakhanova, Vladimir S. Kaimonov, Elizaveta V. Musatova, Konstantin А. Blagodatskikh, Aleksandra А. Tveleneva, Yana V. Sofronova, Ivan A. Yakovlev

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 10, Pp n/a-n/a (2023)

مصطلحات موضوعية: DYSF, dysferlinopathy, endemic allele, endogamy, ethnic isolate, founder effect, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/293d70115cc14046b98306c7af3f8ccc

المؤلفون: Svetlana F. Khaiboullina, Ekaterina V. Martynova, Sergey N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Arthur A. Isaev, Roman V. Deev, Albert A. Rizvanov

المصدر: Case Reports in Medicine, Vol 2017 (2017)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1687-9627; https://doaj.org/toc/1687-9635

URL الوصول: https://doaj.org/article/371209d6386a416fbc9d11d3f857a168

المؤلفون: Aleksandr A. Emelyantsev, Sergey N. Bardakov, Igor’ V. Boikov, Vladimir N. Malakhovskiy, Tamara E. Rameshvili, Vadim A. Tsargush, Gennadiy G. Romanov, Anna A. Bagrova

المصدر: Russian Military Medical Academy Reports. 41:23-30

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::51b0d34b342b42ef0e4e8d86cf2d7441
https://doi.org/10.17816/rmmar104383

المؤلفون: Igor V. Maev, Elena V. Kolmakova, Sergey N. Bardakov, Roman V. Deev, Yuri A. Krivolapov, Inna E. Kotkas, Elena A. Manushina, Sergei A. Kurbatov, Polina G. Tsygankova, Alexey M. Emelin, Natalia V. Bakulina

المصدر: Terapevticheskii arkhiv. 94(8)

مصطلحات موضوعية: Diagnosis, Differential, History, Ophthalmoplegia, Rare Diseases, Mitochondrial Encephalomyopathies, Gastrointestinal Diseases, Endocrinology, Diabetes and Metabolism, Intestinal Pseudo-Obstruction, Masks, Humans, General Medicine, Family Practice

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b2129cca4b3cbdeb1132fdc13fb1ced
https://pubmed.ncbi.nlm.nih.gov/36286980

المؤلفون: Vadim A. Tsargush, Roman V. Deev, Angelina Titova, V.L. Zorin, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, M O Mavlikeev, C. Gartioux, Sergey N. Bardakov, Raisat M. Magomedova, Fedor A. Konovalov, Valérie Allamand, Zoya R. Umakhanova, Ekaterina N. Chernets, Gimat D. Dalgatov, Kamil Z. Zulfugarov

المساهمون: Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Kazan Federal University (KFU), Centre de recherche en Myologie – U974 SU-INSERM

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, IOS Press, 2020, pp.1-12. ⟨10.3233/JND-200476⟩

مصطلحات موضوعية: 0301 basic medicine, Research Report, Male, medicine.medical_specialty, Contracture, Genotype, Ullrich congenital muscular dystrophy, [SDV]Life Sciences [q-bio], COL6A1, Mutation, Missense, Collagen Type VI, Biology, leaky splicing, Muscular Dystrophies, 03 medical and health sciences, Exon, 0302 clinical medicine, type VI collagen, Collagen VI, Internal medicine, fibroblasts, medicine, Missense mutation, Humans, Sibling, Myopathy, collagenopathy, Bethlem myopathy, Infant, Exons, Middle Aged, medicine.disease, contractures, Introns, 030104 developmental biology, Endocrinology, Phenotype, Neurology, Biological Variation, Population, myosclerotic phenotype of Bethlem myopathy, Mutation, Neurology (clinical), medicine.symptom, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be2f1397fdf700dced3ab8143a7c49f6
http://europepmc.org/articles/PMC8075389

المؤلفون: Sergey N, Bardakov, Vadim A, Tsargush, Pierre G, Carlier, Sergey S, Nikitin, Sergey A, Kurbatov, Angelina A, Titova, Zoya R, Umakhanova, Patimat G, Akhmedova, Raisat M, Magomedova, Igor S, Zheleznyak, Alexander A, Emelyantsev, Ekaterina N, Berezhnaya, Ivan, A Yakovlev, Artur A, Isaev, Roman V, Deev

المصدر: Acta Myologica

مصطلحات موضوعية: Muscular Diseases, Muscular Dystrophies, Limb-Girdle, MRI pattern, Miyoshi myopathy, Humans, Original Article, T2-MSME, Muscle, Skeletal, Magnetic Resonance Imaging, dysferlinopathy, LGMDR2, LGMD2B

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cac65c3e0baec8f89ba370b49b293eef
https://pubmed.ncbi.nlm.nih.gov/35047756

المؤلفون: R. V. Deev, Olga N. Chernova, Patimat G. Akhmedova, Isaev Artur Aleksandrovich, Gimat D. Dalgatov, Ivan A. Yakovlev, Zoya R. Umakhanova, Raisat M. Magomedova, Sergey N. Bardakov, Valerii P. Fedotov, M O Mavlikeev

المصدر: Frontiers in Neurology

مصطلحات موضوعية: muscular dystrophy, Dysferlinopathy, medicine.medical_specialty, Miyoshi myopathy, biology, business.industry, Correction, medicine.disease, dysferlinopathy, dysferlin, Dysferlin, Neurology, Internal medicine, medicine, biology.protein, In patient, Neurology (clinical), Muscular dystrophy, business, Clinical progression, Neuroscience, LGMD2B

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8da8ed59cc64a2bf8e0e19bfa0460fa7

المؤلفون: Albert A. Rizvanov, Ekaterina V. Martynova, Sergey N. Bardakov, M O Mavlikeev, A. A. Isaev, Roman V. Deev, Ivan A. Yakovlev, Svetlana F. Khaiboullina

المصدر: Case Reports in Medicine
Case Reports in Medicine, Vol 2017 (2017)

مصطلحات موضوعية: 0301 basic medicine, Muscle tissue, Dysferlinopathy, Pathology, medicine.medical_specialty, lcsh:Medicine, Case Report, Dysferlin, 03 medical and health sciences, Immune system, CXCL10, Medicine, Myocyte, Muscular dystrophy, Wasting, biology, business.industry, lcsh:R, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Immunology, biology.protein, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d13e4be4362e9d3e212886c05c4e66d7
http://europepmc.org/articles/PMC5406743