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American Journal of Physiology: Heart and Circulatory Physiology, ISSN 0363-6135, 02/2014, Volume 306, Issue 4, pp. H564 - H564
Duchenne muscular dystrophy (DMD), induced by mutations in the gene encoding for the cytoskeletal protein dystrophin, is an inherited disease characterized by... 
Journal Article
NEUROMUSCULAR DISORDERS, ISSN 0960-8966, 05/2009, Volume 19, Issue 5, pp. 366 - 378
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 201 - 216
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, p. 855
  Hereditary ataxias comprise a group of genetically heterogeneous disorders characterized by clinically variable cerebellar dysfunction and accompanied by... 
Brain | Genetic disorders | Liver diseases | Neuropathology | Ataxia | Mutation
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2009, Volume 19, Issue 5, p. 366
Mice deficient in the glycosyltransferase Large are characterized by severe muscle and central nervous system abnormalities. In this study, we show that the... 
Cell research
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2009, Volume 19, Issue 5, pp. 366 - 378
Mice deficient in the glycosyltransferase Large are characterized by severe muscle and central nervous system abnormalities. In this study, we show that the... 
Journal Article
Neurology, ISSN 0028-3878, 10/2018, Volume 91, Issue 18, pp. e1690 - e1694
OBJECTIVETo expand the clinical and genetic spectrum of nemaline myopathy 10 by a series of Austrian and German patients with a milder disease course and... 
CLINICAL NEUROLOGY
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 208 - 215
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2005, Volume 14, Issue 9, pp. 1127 - 1137
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2009, Volume 19, Issue 5, pp. 366 - 378
Mice deficient in the glycosyltransferase Large are characterized by severe muscle and central nervous system abnormalities. In this study, we show that the... 
Dystroglycan | Glycosylation | Neuromuscular junction | Skeletal muscle
Journal Article
American Journal of Physiology - Heart and Circulatory Physiology, ISSN 0363-6135, 02/2014, Volume 306, Issue 4, pp. H564 - H573
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 5, p. e20300
Background: Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is associated with severe cardiac complications including... 
MDX MOUSE | NA(V)1.5 | UTROPHIN | MUTATION | BIOLOGY | CONDUCTION | DUCHENNE MUSCULAR-DYSTROPHY | DILATED CARDIOMYOPATHY | DEFICIENT MICE | MODEL | EXPRESSION | Humans | Barium - metabolism | Sodium - metabolism | Utrophin - deficiency | Cardiomyopathies - physiopathology | Muscular Dystrophy, Duchenne - physiopathology | Mice, Inbred mdx | Sodium Channels - metabolism | Electrocardiography | Animals, Newborn | Myocytes, Cardiac - cytology | Mice, Inbred C57BL | Cells, Cultured | Cardiomyopathies - pathology | Muscular Dystrophy, Duchenne - pathology | Action Potentials - physiology | Myocytes, Cardiac - pathology | Patch-Clamp Techniques | Animals | Dystrophin - genetics | Myocytes, Cardiac - metabolism | Mice | Calcium Channels, L-Type - metabolism | Muscular Dystrophy, Duchenne - genetics | Mutation | Infants (Newborn) | Heart | Medical research | Calcium channels | Arrhythmia | Cardiomyopathy | Research | Gene mutations | Analysis | Utrophin | Electrocardiogram | Medicine, Experimental | Genetic aspects | Dystrophin | Heart diseases | Neonates | Electric potential | Calcium | Action potential | Kinases | Inactivation | Muscular dystrophy | Reduction | Developmental stages | Rodents | Duchenne's muscular dystrophy | Voltage | Ion channels | Gating | EKG | Sodium channels | Deactivation | Complications | Channel gating | Abnormalities | Cardiomyocytes | Pathology | Sodium | Dystrophy
Journal Article