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Pacing and Clinical Electrophysiology, ISSN 0147-8389, 04/2019, Volume 42, Issue 4, pp. 487 - 488
Journal Article
Neurology, ISSN 0028-3878, 01/2015, Volume 84, Issue 1, pp. 28 - 35
Journal Article
1988, ISBN 0632019034, ix, 203
Book
Acta Neuropathologica, ISSN 0001-6322, 12/2017, Volume 134, Issue 6, pp. 889 - 904
Journal Article
1988, ISBN 0409951919, xi, 347 p., [2] p. of col. plates
Book
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 10, pp. 2670 - 2679
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2010, Volume 107, Issue 33, pp. 14697 - 14702
Mutations in the MTM1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of human centronuclear myopathy. Seven male... 
Animal models | Necklaces | Phosphatases | Muscular diseases | Canines | Dogs | Muscles | Biopsies | Genetic mutation | Skeletal muscle | Congenital myopathy | Animal model | Canine myopathy | Myotubularin | Necklace fibers | myotubularin | CENTRONUCLEAR MYOPATHY | MULTIDISCIPLINARY SCIENCES | MUSCULAR-DYSTROPHY | PHENOTYPE | HOMOLOG | canine myopathy | necklace fibers | FAMILY | PHOSPHATASE MYOTUBULARIN | MUSCLE-FIBERS | DOGS | LIPID PHOSPHATASE | animal model | SURVIVORS | congenital myopathy | Haplotypes | Humans | Cercopithecus aethiops | Molecular Sequence Data | Male | Muscle, Skeletal - metabolism | Myopathies, Structural, Congenital - genetics | Myopathies, Structural, Congenital - veterinary | Green Fluorescent Proteins - genetics | Dog Diseases - pathology | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Female | Genetic Diseases, X-Linked - genetics | Fluorescent Antibody Technique, Indirect | Amino Acid Sequence | Green Fluorescent Proteins - metabolism | Muscle, Skeletal - ultrastructure | Dog Diseases - genetics | Genotype | Microscopy, Electron | Mice, Knockout | Sequence Homology, Amino Acid | Animals | Pedigree | Protein Tyrosine Phosphatases, Non-Receptor - metabolism | Myopathies, Structural, Congenital - pathology | Genetic Diseases, X-Linked - pathology | Mice | Muscle, Skeletal - pathology | Mutation | COS Cells | Muscle diseases | Genetic aspects | Gene mutations | Properties | Identification and classification | Microtubules | Proteins | Genetics | Mitochondria | Gene expression | Index Medicus | MTM1 gene | Myotubes | Exons | Fetuses | X chromosome | proteasomes | Tubules | Data processing | Nuclei | Atrophy | Biopsy | Protein folding | Age | Myopathy | Life Sciences | Biological Sciences
Journal Article
Journal Article
Journal Article
Case Report - Desmin-related myopathy: Report of a rare case, 12/2005
The Protein Surplus Myopathies (PSM) are characterized by accumulation of protein aggregates, identifiable ultrastructurally, resulting due to mutations of the... 
Desminopathy, Desmin-related myopathy, Protein surplus myopathies, Congenital myopathies, Protein aggregating myopathies
Journal
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2018, Volume 115, Issue 28, pp. E6566 - E6575
Myosin is a molecular motor indispensable for body movement and heart contractility. Apart from pure cardiomyopathy, mutations in MYH7 encoding... 
Laing distal myopathy | Abba/Thin | Myosin myopathy | Drosophila | Myosin | STABILITY | MULTIDISCIPLINARY SCIENCES | myosin myopathy | HEAVY-CHAIN GENE | CARDIOMYOPATHY | myosin | MUSCLE | DISTAL MYOPATHY | INTEGRITY | STORAGE MYOPATHY | MUTATIONS | EXPRESSION | MYH7 | Tripartite Motif Proteins - biosynthesis | Distal Myopathies - pathology | Humans | Myosin Heavy Chains - genetics | Tripartite Motif Proteins - genetics | Myocardium - pathology | Genetic Loci | Drosophila Proteins - metabolism | Myosin Heavy Chains - metabolism | Homozygote | Distal Myopathies - genetics | Animals | Myocardium - metabolism | Distal Myopathies - metabolism | Drosophila Proteins - genetics | Mutation | Drosophila melanogaster | Disease Models, Animal | Genetic aspects | Muscle diseases | Gene expression | Health aspects | Heart | Larvae | Body wall | Cardiomyopathy | Flight | Proteins | Genotype & phenotype | Filaments | Heart diseases | Phenotypes | Cardiac muscle | Molecular motors | Muscles | Cardiomyocytes | Muscle contraction | Coronary artery disease | Skeletal muscle | Insects | Life span | Morphology | Sarcomeres | Myopathy | Structure-function relationships | Index Medicus | Biological Sciences | PNAS Plus | Thin | Abba | Neurologi | Medical and Health Sciences | Medicin och hälsovetenskap | Klinisk medicin | Biomedical Genetics | Genetik | Clinical Medicine | Neurology | Biomedicinsk genetik | Naturvetenskap | Biologiska vetenskaper | Genetics | Natural Sciences
Journal Article
Neuropathology and Applied Neurobiology, ISSN 0305-1846, 04/2011, Volume 37, Issue 3, pp. 271 - 284
J. A. Bevilacqua, N. Monnier, M. Bitoun, B. Eymard, A. Ferreiro, S. Monges, F. Lubieniecki, A. L. Taratuto, A. Laquerrière, K. G. Claeys, I. Marty, M. Fardeau,... 
RYR1 | recessive mutations | myofibrillar disorganization | nuclear internalization | gene | congenital myopathy | Congenital myopathy | Nuclear internalization | RYR1 gene | Myofibrillar disorganization | Recessive mutations | MULTI-MINICORE DISEASE | CENTRONUCLEAR MYOPATHY | PHOSPHATASE | DYNAMIN-2 | DOMINANT | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | MUSCLE RYANODINE RECEPTOR | SKELETAL-MUSCLE | FIBERS | GENE | CENTRAL CORE DISEASE | Immunohistochemistry | Myopathy, Central Core - metabolism | Microscopy, Electron, Transmission | Humans | Male | Cell Nucleus - ultrastructure | Genes, Recessive | Young Adult | Phenotype | Cell Nucleus - metabolism | Myopathy, Central Core - pathology | Myofibrils - ultrastructure | Ryanodine Receptor Calcium Release Channel - genetics | Pedigree | Adolescent | Polymerase Chain Reaction | Adult | Female | Mutation | Child | Myopathy, Central Core - genetics | Genetic research | Neurosciences | Genetic aspects | Genetic disorders | Children's hospitals | Histochemistry | Index Medicus | Neonates | Malignant hyperthermia | Neuropathology | Muscles | Ryanodine receptors | Data processing | Nervous system | Nuclei | Biopsy | Ophthalmoplegia | Transmembrane domains | Sarcomeres | Myopathy | Myopathy, Central Core | Ryanodine Receptor Calcium Release Channel | Myofibrils | Life Sciences | Genetics | Cell Nucleus
Journal Article
Rheumatology, ISSN 1462-0324, 04/2018, Volume 57, Issue suppl_3
Journal Article
Rheumatology, ISSN 1462-0324, 04/2018, Volume 57, Issue suppl_3
Journal Article