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Molecular Therapy, ISSN 1525-0016, 10/2017, Volume 25, Issue 10, pp. 2360 - 2371
Journal Article
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 01/2016, Volume 1862, Issue 1, pp. 1 - 11
Journal Article
Brain, ISSN 0006-8950, 6/2007, Volume 130, Issue 6, pp. 1497 - 1506
Journal Article
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 03/2012, Volume 287, Issue 13, pp. 10344 - 10354
Dysferlin is a transmembrane protein implicated in surface membrane repair of muscle cells. Mutations in dysferlin cause the progressive muscular dystrophies... 
MULTIPLE-MYELOMA | IN-VITRO | GENE | MEMBRANE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GIRDLE MUSCULAR-DYSTROPHY | DEGRADATION | MUTATIONS | MYOPATHY | EXPRESSION | DEFICIENCY | Humans | Muscular Dystrophies, Limb-Girdle - drug therapy | Muscle Fibers, Skeletal - metabolism | Mutation, Missense | RNA, Messenger - metabolism | Proteolysis - drug effects | Acetylcysteine - analogs & derivatives | Muscular Dystrophies, Limb-Girdle - genetics | Muscle Proteins - metabolism | Distal Myopathies - metabolism | Antineoplastic Agents - pharmacology | Membrane Proteins - metabolism | Muscular Dystrophies, Limb-Girdle - pathology | Distal Myopathies - drug therapy | Bortezomib | Muscular Atrophy - metabolism | Membrane Proteins - genetics | Distal Myopathies - pathology | Muscular Atrophy - pathology | RNA, Messenger - genetics | Cells, Cultured | Dysferlin | Muscular Atrophy - genetics | Muscular Atrophy - drug therapy | Muscle Proteins - genetics | Proteasome Endopeptidase Complex - genetics | Distal Myopathies - genetics | Muscular Dystrophies, Limb-Girdle - metabolism | Cysteine Proteinase Inhibitors - pharmacology | Acetylcysteine - pharmacology | Alleles | Muscle Fibers, Skeletal - pathology | Proteasome Endopeptidase Complex - metabolism | Proteasome Inhibitors | Pyrazines - pharmacology | Amino Acid Substitution | Boronic Acids - pharmacology | Index Medicus | Sarcolemma | Mis-sense Mutation | Ubiquitylation | Proteasomal Inhibition | Muscular Dystrophy | Cell Biology | Proteasome
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2017, Volume 27, Issue 4, pp. 358 - 362
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2015, Volume 356, Issue 1, pp. 157 - 162
Journal Article
Journal Article