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Journal of Neurology, ISSN 0340-5354, 7/2019, Volume 266, Issue 7, pp. 1649 - 1654
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive... 
Neurology | Neurosciences | Medicine & Public Health | Limb-girdle muscular dystrophy | COL6A2 | Collagenopathy | Neuroradiology | Myopathy | CLINICAL NEUROLOGY | Phenotypes | Magnetic resonance imaging | Collagen | Heredity | Children | Mutation | Dystrophy | Muscular dystrophy | Original Communication
Journal Article
Journal of Neurology, ISSN 0340-5354, 7/2015, Volume 262, Issue 7, pp. 1728 - 1740
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 450 - 455
Journal Article
Science, ISSN 0036-8075, 6/2005, Volume 308, Issue 5728, pp. 1599 - 1603
The giant sarcomeric protein titin contains a protein kinase domain (TK) ideally positioned to sense mechanical load. We identified a signaling complex where... 
Proteins | Muscular diseases | Genes | Cell lines | Ligands | Gene expression regulation | Gene expression | Genetic mutation | Sarcomeres | Skeletal muscle | Research Article | INACTIVATION | ACTIVATION | MULTIDISCIPLINARY SCIENCES | SERUM RESPONSE FACTOR | RING-FINGER PROTEIN | DYNAMICS | MYOFIBRILLOGENESIS | M-BAND | MYOPATHY | IDENTIFICATION | MYOMESIN | Protein Kinases - metabolism | Protein Kinases - genetics | Connectin | Sequestosome-1 Protein | Humans | Molecular Sequence Data | Protein Kinases - chemistry | Muscle, Skeletal - metabolism | Cell Nucleus - metabolism | Muscle Proteins - metabolism | Protein Structure, Tertiary | Amino Acid Sequence | Cell Line | Catalytic Domain | Signal Transduction | Sarcomeres - metabolism | Serum Response Factor - metabolism | Heat-Shock Proteins - metabolism | Gene Expression Regulation | Ubiquitin-Protein Ligases - metabolism | Rats | Mice, Inbred C3H | Muscle Proteins - genetics | Two-Hybrid System Techniques | Animals | Proteins - metabolism | Respiratory Insufficiency - genetics | Myocytes, Cardiac - metabolism | Protein Binding | Protein Conformation | Mice | Muscle Proteins - chemistry | Muscular Diseases - genetics | Mutation | Respiratory Insufficiency - metabolism | Amino Acid Substitution | Muscles | Research | Muscular system | Disease | Index Medicus | Space life sciences
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2019, Volume 85, Issue 6, pp. 899 - 906
Objective To clinically and pathologically characterize a cohort of patients presenting with a novel form of distal myopathy and to identify the genetic cause... 
DOMAIN | PROTEIN | CARDIOMYOPATHY | GENES | ALPHA-ACTININ-2 | NEUROSCIENCES | CLINICAL NEUROLOGY | ALPHA-ACTININ | Ankle | Identification methods | Muscles | Dystrophy | Mutation | Muscular dystrophy | Myopathy | Structure-function relationships
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2018, Volume 128, Issue 3, pp. 1164 - 1177
Journal Article
Journal Article
Journal of Cell Science, ISSN 0021-9533, 06/2008, Volume 121, Issue 11, pp. 1841 - 1851
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 6, pp. 1695 - 1713
Journal Article
Journal Article