المؤلفون: Hans H. Jung, Michael Sinnreich, Jens A. Petersen, Wolfram Kress, Thierry Kuntzer, Angela Huebner, Elisabeth J. Rushing, Maja von der Hagen, Johannes Alexander Lobrinus, Veronika Kana, Dirk Fischer

المساهمون: University of Zurich, Petersen, Jens A

المصدر: BMC Neurology, Vol. 15 (2015) P. 182
BMC neurology
BMC Neurology
Bmc Neurology, vol. 15, no. 1, pp. 182

مصطلحات موضوعية: Adult, Male, Heterozygote, Dysferlinopathy, Adolescent, Clinical Neurology, 10208 Institute of Neuropathology, Muscle Proteins, 610 Medicine & health, ddc:616.07, medicine.disease_cause, Dysferlin, Young Adult, medicine, Humans, Myopathy, ddc:611, Genetics, Mutation, biology, Genetic heterogeneity, business.industry, Homozygote, Haplotype, Membrane Proteins, General Medicine, Anatomy, Middle Aged, medicine.disease, Founder Effect, 10040 Clinic for Neurology, 3. Good health, 2728 Neurology (clinical), Phenotype, Muscular Dystrophies, Limb-Girdle, Female, Membrane Proteins/genetics, Muscle Proteins/genetics, Muscular Dystrophies, Limb-Girdle/genetics, Switzerland, biology.protein, Neurology (clinical), medicine.symptom, business, Research Article, Limb-girdle muscular dystrophy, Founder effect

وصف الملف: s12883-015-0449-3.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b5d47ec334c3e9a41a950925d0c5859Test
https://doi.org/10.1186/s12883-015-0449-3Test

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: Kate Bushby, Alexandra van Remoortere, Johan T. den Dunnen, Rune R. Frants, Yanchao Huang, Antoine de Morrée, Silvère M. van der Maarel

المصدر: Huang, Y, de Morrée, A, van Remoortere, A, Bushby, K, Frants, R R, den Dunnen, J T & van der Maarel, S M 2008, ' Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle ', Human Molecular Genetics, vol. 17, no. 12, pp. 1855-66 . https://doi.org/10.1093/hmg/ddn081Test

مصطلحات موضوعية: Muscle Proteins, Down-Regulation, Muscle disorder, Sarcomere, Dysferlin, Mice, Downregulation and upregulation, Multiprotein Complexes/metabolism, Chlorocebus aethiops, Genetics, medicine, Animals, Neoplasm Proteins/metabolism, Muscular dystrophy, Muscle, Skeletal, Molecular Biology, Genetics (clinical), Muscle Proteins/metabolism, Muscle, Skeletal/metabolism, biology, Calpain, Calpain/metabolism, Muscular Dystrophies, Limb-Girdle/genetics, Skeletal muscle, Membrane Proteins, General Medicine, Articles, 3T3 Cells, medicine.disease, Cell biology, Neoplasm Proteins, Up-Regulation, medicine.anatomical_structure, Membrane protein, Biochemistry, Muscular Dystrophies, Limb-Girdle, Multiprotein Complexes, COS Cells, biology.protein, Membrane Proteins/metabolism

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67503d939f2ea79a062199096ab65d7eTest
https://pure.au.dk/portal/da/publications/calpain-3-is-a-modulator-of-the-dysferlin-protein-complex-in-skeletal-muscleTest(3311d29d-14a2-4278-81ee-89c2ca100679).html

المؤلفون: A Meulemans, Sara Seneca, Linda De Meirleir, Joél Smet, Willy Lissens, Jan De Bleecker, Rudy Van Coster, Boel De Paepe

المساهمون: Faculty of Medicine and Pharmacy, Department of Embryology and Genetics, Pediatrics

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: Muscle tissue, Mitochondrial DNA, Muscle Fibers, Skeletal, oxidative phosphorylation, Biology, DNA, Mitochondrial, law.invention, Restriction fragment, DNA, Mitochondrial/genetics, Electron Transport Complex IV, RNA, Transfer, Arts and Humanities (miscellaneous), law, Electron Transport Complex IV/genetics, medicine, Cytochrome c oxidase, oxidative phosphorylation system, Humans, Muscle, Skeletal, Myopathy, Muscle Fibers, Skeletal/pathology, Gene, Polymerase chain reaction, Mutation/physiology, Polymorphism, Single-Stranded Conformational, Genetics, mt disorders, Muscular Dystrophies, Limb-Girdle/genetics, Middle Aged, Molecular biology, Immunohistochemistry, Heteroplasmy, Blotting, Southern, medicine.anatomical_structure, Muscular Dystrophies, Limb-Girdle, Muscle, Skeletal/pathology, Mutation, biology.protein, Electrophoresis, Polyacrylamide Gel, Female, Neurology (clinical), medicine.symptom, DNA mutations, RNA, Transfer/genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3537da1e5c6bb49f9ddfe86691abbba9Test
https://doi.org/10.1001/archneur.64.9.1339Test