المؤلفون: Limin Li, Qiong Yan, Mingming Deng, Muhan Lü, Tiejun Zhou, Xiaolin Zhong

المصدر: Frontiers in Medicine, Vol 11 (2025)

مصطلحات موضوعية: ulcerative colitis, dysferlinopathy, DYSF mutation, muscle weakness, case report, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1481780/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/4d1251ef38fb4a538eb194dd4e56cc05

المؤلفون: Hamed Hesami, Serwa Ghasemi, Golnaz Houshmand, Yalda Nilipour, Mahshid Hesami, Alireza Biglari, Shahriar Nafissi, Majid Maleki, Samira Kalayinia

المصدر: BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: DYSF, Limb-girdle muscular dystrophy, Dysferlin, Whole-exome sequencing, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/8f548777472647cfb5bf30df13f1a719

المؤلفون: Lun Wang, Yan Zhou, Tiantian Wei, Hongyao Huang

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: Dysferlinopathy, DYSF, splicing, WES, minigene, homozygous, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1404611/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/30f447ae512d4c4396c23d6131768fee

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: Kaur, Namrita, Carlsson, Sven R., Lystad, Alf Håkon

المصدر: Autophagy. 20(1):214-215

مصطلحات موضوعية: CASM, DysF, membrane damage, non-canonical autophagy, SopF, sphingomyelin

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-214413
https://doi.org/10.1080/15548627.2023.2255462
https://umu.diva-portal.org/smash/get/diva2:1798227/FULLTEXT02.pdf

المؤلفون: Jürgen Becker, Jörg Wilting

المصدر: International Journal of Molecular Sciences ; Volume 25 ; Issue 22 ; Pages: 12226

مصطلحات موضوعية: lymphatic endothelial cell, ANKRD37, CAV1, CAV2, CD59, CNN3, DYSF, KANK3, MARCKSL1, MMRN1, NXN, SPTAN1, SPTBN1

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms252212226

الاتاحة: https://doi.org/10.3390/ijms252212226

المؤلفون: Kaur, Namrita, de la Ballina, Laura Rodriguez, Haukaas, Håvard Styrkestad, Torgersen, Maria Lyngaas, Radulovic, Maja, Munson, Michael J., Sabirsh, Alan, Stenmark, Harald, Simonsen, Anne, Carlsson, Sven R., Lystad, Alf Håkon

المصدر: EMBO Journal. 42(17)

مصطلحات موضوعية: CASM, DysF, membrane damage, noncanonical autophagy, sphingomyelin

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-212102
https://doi.org/10.15252/embj.2022113105
https://umu.diva-portal.org/smash/get/diva2:1782780/FULLTEXT02.pdf

المؤلفون: M. V. Korokin, E. V. Kuzubova, A. I. Radchenko, R. V. Deev, I. A. Yakovlev, A. V. Deikin, N. S. Zhunusov, A. M. Krayushkina, V. M. Pokrovsky, O. A. Puchenkova, K. D. Chaprov, N. V. Ekimova, S. N. Bardakov, O. N. Chernova, A. M. Emelin, I. S. Limaev

المصدر: Фармация и фармакология (Пятигорск), Vol 10, Iss 5, Pp 483-496 (2022)

مصطلحات موضوعية: dysferlinopathy, dysf gene, myoshi’s myopathy, muscular dystrophy, phenotyping, knockout, genotyping, animals, mouse model, b6.a-dysfprmd/genej, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: https://www.pharmpharm.ru/jour/article/view/1200; https://doaj.org/toc/2307-9266; https://doaj.org/toc/2413-2241

URL الوصول: https://doaj.org/article/d38a67d29fb84df8b4112fa10beab58d

المؤلفون: S. N. Bardakov, A. М. Emelin, S. S. Nikitin, A. N. Khelkovskaya-Sergeeva, I. S. Limaev, A. F. Murtazina, V. A. Tsargush, M. V. Gusev, Ya. V. Safronova, V. S. Kaimonov, A. A. Isaev, R. V. Deev

المصدر: Нервно-мышечные болезни, Vol 12, Iss 4, Pp 73-87 (2022)

مصطلحات موضوعية: dysferlinopathy, limb‑girdle muscular dystrophy r2, dysf gene, inflammatory myopathies, polymyositis, immunosuppression, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/510; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/b2e69f02488b40eaa34fb3cd3cd8b162

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: Xiaojie Cao, Li Zeng, Zhijie Lu, Jin Fan, Song Tan, Mingjie Zhang, Zegang Yin

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: LGMD, DMD/BMD, dysferlin, dysferlinopathy, DYSF gene, case report, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1213090/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/54161ee645b44467803e3a2107452d99

المؤلفون: Joonhong Park, Young Jae Moon, Dal Sik Kim

المصدر: Genes; Volume 14; Issue 1; Pages: 200

مصطلحات موضوعية: Dysferlinopathy, Miyoshi muscular dystrophy type 1, DYSF gene, c.663 + 1G > C, p.Trp992Arg, targeted panel sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14010200

الاتاحة: https://doi.org/10.3390/genes14010200

المؤلفون: Fatemeh Arab, Najmeh Ahangari, Hadis Malek, Mohammad Doosti, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani

المصدر: Advanced Biomedical Research, Vol 12, Iss 1, Pp 150-150 (2023)

مصطلحات موضوعية: dysf, gene, limb-girdle muscular dystrophy type 2b, muscular dystrophy, Medicine, Biology (General), QH301-705.5

Relation: http://www.advbiores.net/article.asp?issn=2277-9175;year=2023;volume=12;issue=1;spage=150;epage=150;aulast=Arab; https://doaj.org/toc/2277-9175; https://doaj.org/article/8b4ee63343f947b7b3a048aca15106de

الاتاحة: https://doi.org/10.4103/abr.abr_131_22
https://doaj.org/article/8b4ee63343f947b7b3a048aca15106de

المؤلفون: Norah Alharbi, Rawan Matar, Edward Cupler, Hindi Al-Hindi, Hatem Murad, Iftteah Alhomud, Dorota Monies, Ali Alshehri, Mossaed Alyahya, Brian Meyer, Saeed Bohlega

المصدر: Frontiers in Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: dysferlinopathy, limb-girdle muscular dystrophies (LGMD), LGMD2B, Miyoshi myopathy, dysferlin, DYSF gene, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2022.815556/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/194beec82c174e3386965d4382cfafbc

المؤلفون: Patrizia Spadafora, Antonio Qualtieri, Francesca Cavalcanti, Gemma Di Palma, Olivier Gallo, Selene De Benedittis, Annamaria Cerantonio, Luigi Citrigno

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 16; Pages: 8932

مصطلحات موضوعية: DYSF, LGMDR2/2B, dysferlin, dysferlinopathies, Limb Girdle Muscular Dystrophy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms23168932

الاتاحة: https://doi.org/10.3390/ijms23168932

المؤلفون: Boyle, Keith B, Ellison, Cara J, Elliott, Paul R, Schuschnig, Martina, Grimes, Krista, Dionne, Marc S, Sasakawa, Chihiro, Munro, Sean, Martens, Sascha, Randow, Felix

مصطلحات موضوعية: ATG5-ATG12 E3 ligase, DysF, autophagy, membrane damage, sphingomyelin, Animals, Sphingomyelins, Microtubule-Associated Proteins, Autophagy-Related Proteins, Carrier Proteins, Ubiquitin-Protein Ligases, Autophagy-Related Protein 5, Mammals

وصف الملف: application/pdf; application/zip; text/xml

Relation: https://www.repository.cam.ac.uk/handle/1810/375555

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/375555

المؤلفون: Huili Zhang, Yaqin Li, Qiusheng Cheng, Xi Chen, Qiuxia Yu, Ze Li

المصدر: Frontiers in Neurology, Vol 11 (2021)

مصطلحات موضوعية: dysferlinopathy, DYSF, MRI, dysferlin, peripheral blood mononuclear cells, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2020.540098/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/107d7a604b63483b97497cea7a08ac19

المؤلفون: V. A. Tsargush, S. N. Bardakov, P. Calier, S. S. Bagnenko, I. S. Zheleznyak, А. А. Емельянцев, M. S. Pushkin, R. V. Deev, А. А. Isaev, В. А. Царгуш, С. Н. Бардаков, П. Карлиер, С. С. Багненко, И. С. Железняк, М. С. Пушкин, Р. В. Деев, А. А. Исаев

المصدر: Diagnostic radiology and radiotherapy; Том 12, № 2 (2021); 41-48 ; Лучевая диагностика и терапия; Том 12, № 2 (2021); 41-48 ; 2079-5343

مصطلحات موضوعية: отечные изменения мышц, limb-girdle muscular dystrophy 2B, limb-girdle muscular dystrophy R2, DYSF, muscle MRI, STIR, muscle edematous changes, поясно-конечностная мышечная дистрофия 2В, ПКМД R2, МРТ мышц

وصف الملف: application/pdf

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Immune-mediated pathology in Duchenne muscular dystrophy // Science translational medicine. 2015. Vol. 7, No. 299. Р. 299rv4. doi:10.1126/scitranslmed.aaa7322.; Diaz-Manera J., Fernandez-Torron R., J.L.L., James M.K., Mayhew A., Smith F.E. et al. Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials // Journal of neurology, neurosurgery, and psychiatry. 2018. Vol. 89, No. 10. Р. 1071–1081. doi:10.1136/jnnp-2017-317488.; Jin S., Du J., Wang Z., Zhang W., Lv H., Meng L. et al. Heterogeneous characteristics of MRI changes of thigh muscles in patients with dysferlinopathy // Muscle & nerve. 2016. Vol. 54, No. 6. Р. 1072–1079. doi:10.1002/mus.25207.; Diaz J., Woudt L., Suazo L., Garrido C., Caviedes P. et al. Broadening the imaging phenotype of dysferlinopathy at different disease stages // Muscle & nerve. 2016. Vol. 54, No. 2. Р. 203–210. doi:10.1002/mus.25045.; Yushkevich P.A., Piven J., Hazlett H.C., Smith R.G., Ho S., Gee J.C. et al. User-guided 3D active contour segmentation of anatomical structures: significantly improved efficiency and reliability // NeuroImage. 2006. Vol. 31, No. 3. Р. 1116–1128. doi:10.1016/j.neuroimage.2006.01.015.; Jethwa H., Jacques T.S., Gunny R., Wedderburn L.R., Pilkington C., Manzur A.Y. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report // Pediatr. Rheumatol. Online J. 2013. Vol. 11, No. 1. Р. 19. doi:10.1186/1546-0096-11-19.; Scalco RS., Lorenzoni PJ., Lynch DS., Martins WA., Jungbluth H., Quinlivan R. et al. Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? // The American journal of case reports. 2017. Vol. 18. Р. 17–21. doi:10.12659/ajcr.900970.; Tang J., Song X., Ji G., Wu H., Sun S., Lu S. et al. A novel mutation in the DYSF gene in a patient with a presumed inflammatory myopathy // Neuropathology: official journal of the Japanese Society of Neuropathology. 2018. doi:10.1111/neup.12474.; Kesper K., Kornblum C., Reimann J., Lutterbey G., Schroder R., Wattjes M.P. Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study // Acta neurologica Scandinavica. 2009. Vol. 120, No. 2. Р. 111–118. doi:10.1111/j.1600-0404.2008.01129.x.; Paradas C., Llauger J., Diaz-Manera J., Rojas-Garcia R., De Luna N., Iturriaga C. et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies // Neurology. 2010. Vol. 75, No. 4. Р. 316– 23.doi:10.1212/WNL.0b013e3181ea1564.; Angelini C., Peterle E., Gaiani A., Bortolussi L., Borsato C. 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الاتاحة: https://radiag.bmoc-spb.ru/jour/article/view/621
https://doi.org/10.22328/2079-5343-2021-12-2-41-48

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

مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Genetics, Neuroscience, Physiology, Cancer, Virology, Computational Biology, Contractures, DYSF, Dysferlinopathy, Limb-girdle muscle dystrophy R2, Spine rigidity

Relation: https://figshare.com/articles/figure/Additional_file_1_of_Miyoshi_myopathy_associated_with_spine_rigidity_and_multiple_contractures_a_case_report/25237320

الاتاحة: https://doi.org/10.6084/m9.figshare.25237320.v1
https://figshare.com/articles/figure/Additional_file_1_of_Miyoshi_myopathy_associated_with_spine_rigidity_and_multiple_contractures_a_case_report/25237320

المؤلفون: V. Tsargush A., S. Bardakov N., S. Bagnenko S., I. Zheleznyak S., Z. Umakhanova R., P. Akhmedova G., R. Magomedova M., K. Mollaeva U., K. Zulfugarov Z., A. Emelyantsev A., E. Chernets N., I. Yakovlev A., G. Dalgatov D., A. Isaev A., R. Deev V., В. Царгуш А., С. Бардаков Н., С. Багненко С., И. Железняк С., З. Умаханова Р., П. Ахмедова Г., Р. Магомедова М., К. Моллаева Ю., К. Зульфугаров З., А. Емельянцев А., Е. Чернец Н., И. Яковлев А., Г. Далгатов Д., А. Исаев А., Р. Деев В.

المساهمون: Выражаем благодарность заведующей лабораторией «GeneticO» (г. Москва) Е. А. Померанцевой и ее сотрудникам.

المصدر: Diagnostic radiology and radiotherapy; Том 11, № 1 (2020); 93-105 ; Лучевая диагностика и терапия; Том 11, № 1 (2020); 93-105 ; 2079-5343 ; 10.22328/2079-5343-2020-1

مصطلحات موضوعية: dysferlinopathy, Limb-girdle muscular dystrophy R2, DYSF, myopathy, muscle MRI, MRI pattern of dysferlinopathy, дисферлинопатии, поясно-конечностная мышечная дистрофия R2, миопатия, МРТ мышц, МР-паттерн дисферлинопатий

وصف الملف: application/pdf

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الاتاحة: https://radiag.bmoc-spb.ru/jour/article/view/478
https://doi.org/10.22328/2079-5343-2020-11-1-93-105