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Nature Medicine, ISSN 1078-8956, 2011, Volume 17, Issue 6, pp. 720 - 725
Myotonic dystrophy is the most common muscular dystrophy in adults and the first recognized example of an RNA-mediated disease. Congenital myotonic dystrophy... 
MEDICINE, RESEARCH & EXPERIMENTAL | CTG REPEAT | CENTRONUCLEAR MYOPATHY | PROTEIN-KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MYOTUBULAR MYOPATHY | CELL BIOLOGY | SKELETAL-MUSCLE | MESSENGER-RNA | GENE | CHLORIDE CHANNEL | AMPHIPHYSIN-2 BIN1 | MUTATIONS | Cell Line | RNA-Binding Proteins - physiology | Humans | Alternative Splicing - physiology | Exons - genetics | Muscle Weakness - genetics | Protein Isoforms - physiology | Tumor Suppressor Proteins - physiology | Adaptor Proteins, Signal Transducing - physiology | Myotonic Dystrophy - physiopathology | Animals | Tumor Suppressor Proteins - genetics | Adaptor Proteins, Signal Transducing - genetics | Myotonic Dystrophy - genetics | Mice | Nuclear Proteins - physiology | Muscle Weakness - physiopathology | Nuclear Proteins - genetics | Muscle Fibers, Skeletal - physiology | RNA-Binding Proteins - metabolism | Protein Isoforms - genetics | Muscle weakness | Myotonic dystrophy | RNA | Physiological aspects | Genetic aspects | Research | Risk factors | Musculoskeletal diseases | Musculoskeletal system | Biosynthesis | Protein synthesis | Muscular dystrophy | Index Medicus | Alternative Splicing | Exons | Myotonic Dystrophy | RNA-Binding Proteins | Nuclear Proteins | Life Sciences | Adaptor Proteins, Signal Transducing | Muscle Fibers, Skeletal | Protein Isoforms | Muscle Weakness | Tumor Suppressor Proteins | Cancer | Naturvetenskap | Natural Sciences
Journal Article
European Heart Journal, ISSN 0195-668X, 2017, Volume 38, Issue 41, pp. 3070 - 3078
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 2009 - 15
Journal Article
07/2010
Dysferlinopathies encompass a large variety of neuromuscular diseases characterized by the absence of dysferlin in skeletal muscle and an autosomal recessive... 
LGMD 2B | muscular dystrophy | dysferlin | Miyoshi myopathy | mini-dysferlin | limb girdle muscular dystrophy | Distal myopathy with anterior tibial onset | dysferlinopathies
Web Resource
by Okkersen, Kees and Jimenez-Moreno, Cecilia and Wenninger, Stephan and Daidj, Ferroudja and Glennon, Jeffrey and Cumming, Sarah and Littleford, Roberta and Monckton, Darren and Monckton, Darren G and Lochmüller, Hanns and Catt, Sharon and Catt, Michael and Faber, Catharina and Faber, Catharina G and Hapca, Adrian and Donnan, Peter T and Donnan, Peter and Gorman, Gráinne and Bassez, Guillaume and Schoser, Benedikt and Knoop, Hans and Treweek, Shaun and van Engelen, Baziel and van Engelen, Baziel G M and Kierkegaard, Marie and Maas, Daphne and Nikolaus, Stephanie and Cornelissen, Yvonne and van Nimwegen, Marlies and Klerks, Ellen and Bouman, Sacha and Heskamp, Linda and Heerschap, Arend and Rahmadi, Ridho and Groot, Perry and Heskes, Tom and Kapusta, Katarzyna and Abghari, Shaghayegh and Aschrafi, Armaz and Poelmans, Geert and Raaphorst, Joost and Trenell, Michael and van Laar, Sandra and Wood, Libby and Cassidy, Sophie and Newman, Jane and Charman, Sarah and Steffaneti, Renae and Taylor, Louise and Brownrigg, Allan and Day, Sharon and Atalaya, Antonio and Hogarth, Fiona and Schüller, Angela and Stahl, Kristina and Künzel, Heike and Wolf, Martin and Jelinek, Anna and Lignier, Baptiste and Couppey, Florence and Delmas, Stéphanie and Deux, Jean-François and Hankiewicz, Karolina and Dogan, Celine and Minier, Lisa and Chevalier, Pascale and Hamadouche, Amira and Adam, Berit and Hannah, Michael and McKenzie, Emma and Rauchhaus, Petra and Van Hees, Vincent and Schwalber, Ameli and Merkies, Ingemar and Dittrich, Juliane and OPTIMISTIC Consortium and OPTIMISTIC consortium
The Lancet Neurology, ISSN 1474-4422, 08/2018, Volume 17, Issue 8, pp. 671 - 680
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2016, Volume 11, Issue 2, pp. e0148264 - e0148264
Journal Article