المؤلفون: Jacques S. Beckmann, Melissa J. Spencer

المصدر: Neuromuscular Disorders, vol. 18, no. 12, pp. 913-921

مصطلحات موضوعية: Sarcomeres, Gene isoform, Muscle Proteins, Models, Biological, Sarcomere, Article, medicine, Animals, Humans, Calpain/genetics, Calpain/metabolism, Muscle Proteins/genetics, Muscle Proteins/metabolism, Muscular Dystrophies, Limb-Girdle/genetics, Muscular Dystrophies, Limb-Girdle/metabolism, Mutation, Sarcomeres/metabolism, Muscular dystrophy, Genetics (clinical), Loss function, Genetics, biology, Calpain, Dystrophy, medicine.disease, Cell biology, Muscular Dystrophies, Limb-Girdle, Neurology, Pediatrics, Perinatology and Child Health, biology.protein, Titin, Neurology (clinical), Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d38571d4127b7b2f9c161021bded730Test
https://doi.org/10.1016/j.nmd.2008.08.005Test

المؤلفون: Gulcin Pekkurnaz, Joshua Zimmerberg, Elena Mekhedov, Glen Humphrey, Antoine de Morrée, Paul S. Blank, Kanneboyina Nagaraju

المصدر: Humphrey, G W, Mekhedov, E, Blank, P S, de Morree, A, Pekkurnaz, G, Nagaraju, K & Zimmerberg, J 2012, ' GREG cells, a dysferlin-deficient myogenic mouse cell line ', Experimental Cell Research, vol. 318, no. 2, pp. 127-35 . https://doi.org/10.1016/j.yexcr.2011.10.004Test

مصطلحات موضوعية: Dysferlinopathy, Muscle Fibers, Skeletal/metabolism, Muscle Fibers, Skeletal, Wounds and Injuries/genetics, Pyridinium Compounds, Muscle Development, Article, Cell Line, Dysferlin, Myoblasts, Mice, Lasers/adverse effects, Genetic model, medicine, Myocyte, Animals, Membrane Proteins/genetics, Muscle, Skeletal/injuries, Muscle, Skeletal, Cell Proliferation, biology, Myogenesis, Lasers, Muscular Dystrophies, Limb-Girdle/genetics, Myoblasts/metabolism, Plasma membrane repair, Membrane Proteins, Cell Biology, Quaternary Ammonium Compounds/adverse effects, medicine.disease, Cell biology, Quaternary Ammonium Compounds, Membrane protein, Biochemistry, Muscular Dystrophies, Limb-Girdle, biology.protein, Muscle Development/genetics, Wounds and Injuries, C2C12, Pyridinium Compounds/adverse effects

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::156866ab8970d9792fc4e1b5f57e4c0cTest
https://pure.au.dk/portal/da/publications/greg-cells-a-dysferlindeficient-myogenic-mouse-cell-lineTest(f9da42d8-4dbf-4004-a973-dacb38b07d80).html

المؤلفون: Francesco Muntoni, Hulya Gundesli, Beril Talim, Haluk Topaloglu, Motoi Kanagawa, Jakob S. Satz, Alessio Accardi, Stefan Kunz, Yuji Hara, Steven J. Burden, Daniel Beltrán-Valero de Bernabé, Pervin Dinçer, Robert W. Crawford, Takako Yoshida-Moriguchi, Kevin P. Campbell, Burcu Balci-Hayta, Tobias Willer, Michael B. A. Oldstone

المصدر: New England Journal of Medicine, vol. 364, no. 10, pp. 939-946

مصطلحات موضوعية: musculoskeletal diseases, animal structures, Mutation, Missense, Article, Dystroglycans, Mice, Laminin, medicine, Dystroglycan, Missense mutation, Animals, Humans, Muscular dystrophy, biology, Skeletal muscle, General Medicine, Sequence Analysis, DNA, medicine.disease, Disease Models, Animal, Dystroglycans/genetics, Female, Muscular Dystrophies, Limb-Girdle/genetics, Pedigree, Phenotype, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, biology.protein, Cancer research, Pikachurin, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5092580db21147cc92735b2fe0de1b6Test
https://pubmed.ncbi.nlm.nih.gov/21388311Test