المؤلفون: Roman V. Deev, Sergei N. Bardakov, Mikhail O. Mavlikeev, Ivan A. Yakovlev, Zoya R. Umakhanova, Patimat G. Akhmedova, Raisat M. Magomedova, Irina A. Chekmaryeva, Gimat D. Dalgatov, Artur A. Isaev

المصدر: Frontiers in Neurology, Vol 8 (2017)

مصطلحات موضوعية: plectin, plectinopathy, limb-girdle muscle dystrophy 2Q, lung injury, muscular dystrophies, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fneur.2017.00367/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/3104ec04cb774ed689a171829c28065b

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

المصدر: Frontiers in Neurology

مصطلحات موضوعية: 0301 basic medicine, muscular dystrophy, medicine.medical_specialty, Dysferlinopathy, Miyoshi myopathy, Case Report, Disease, Dysferlin, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, medicine, In patient, Muscular dystrophy, Genetics, biology, business.industry, Incidence (epidemiology), medicine.disease, dysferlinopathy, dysferlin, 030104 developmental biology, Neurology, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery, Neuroscience, LGMD2B

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8a83a55fccfb4db0b2922caca687bea
http://europepmc.org/articles/PMC5340769