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Brain, ISSN 0006-8950, 2012, Volume 135, Issue 4, pp. 1115 - 1127
The skeletal muscle ryanodine receptor is an essential component of the excitation-contraction coupling apparatus. Mutations in RYR1 are associated with... 
myopathies | antioxidant response | oxidative stress | neuromuscular disorders | MULTI-MINICORE DISEASE | MALIGNANT HYPERTHERMIA | SELENOPROTEIN-N | N-ACETYLCYSTEINE | CONGENITAL MYOPATHIES | LARGE GENE LISTS | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | RYANODINE RECEPTOR | CALCIUM-RELEASE | CENTRAL CORE DISEASE | Muscle Contraction - genetics | Humans | Ryanodine Receptor Calcium Release Channel - metabolism | Muscle Fibers, Skeletal - drug effects | Muscle Fibers, Skeletal - metabolism | Mitochondria - ultrastructure | Behavior, Animal | Microarray Analysis | Muscle Fibers, Skeletal - ultrastructure | Muscular Diseases - drug therapy | Acetophenones - pharmacology | Muscle Proteins - metabolism | Acetylcysteine - therapeutic use | Disease Models, Animal | Microscopy, Electron, Transmission | Animals, Genetically Modified | Muscular Diseases - metabolism | Enzyme Inhibitors - pharmacology | Oxidative Stress - genetics | Zebrafish | Muscular Diseases - pathology | Mutation - genetics | Indomethacin - pharmacology | Muscle Proteins - genetics | Antioxidants - therapeutic use | Animals | Larva | Ryanodine Receptor Calcium Release Channel - genetics | Muscle Fibers, Skeletal - pathology | Muscular Diseases - genetics | Oxidative Stress - drug effects | Antioxidants | Oxidative stress | Mitochondria | Myotubes | Excitation-contraction coupling | Oxidants | Acetylcysteine | Ryanodine receptors | Children | Mutation | Skeletal muscle | Myopathy | Acetophenones | Enzyme Inhibitors | Oxidative Stress | Ryanodine Receptor Calcium Release Channel | Cellular Biology | Life Sciences | Muscle Proteins | Muscle Contraction | Muscle Fibers, Skeletal | Muscular Diseases | Indomethacin | Original
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 4/2009, Volume 18, Issue R1, pp. R107 - R112
The zebrafish is increasingly being used for the functional annotation of human disease genes as well as to model the cellular and molecular mechanisms... 
MULTI-MINICORE DISEASE | INTEGRIN-LINKED KINASE | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SELENOPROTEIN-N | IN-VIVO | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CONGENITAL MYOPATHY | SKELETAL-MUSCLES | MUTATIONS | ZINC-FINGER NUCLEASES | Animals | Zebrafish - embryology | Humans | Zebrafish - metabolism | Zebrafish - genetics | Disease Models, Animal
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 05/2019, Volume 29, Issue 5, pp. 350 - 357
Titin, encoded by the gene , is one of the main sarcomere components. It is involved in not only maintaining the structure of cardiac and skeletal muscles, but... 
Electron microscopy study | Minigene | Congenital titinopathy | Multi-minicore disease | Histochemical staining | TTN | TITIN | MYOPATHY | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2010, Volume 20, Issue 3, pp. 166 - 173
Abstract The skeletal muscle ryanodine receptor plays a crucial role in excitation–contraction (EC) coupling and is implicated in various congenital... 
Neurology | Multi-minicore disease (MmD) | Skeletal muscle ryanodine receptor (RYR1) gene | Excitation–contraction coupling (ECC) | Periodic paralysis | Excitation-contraction coupling (ECC) | MALIGNANT-HYPERTHERMIA | PHENOTYPE | DEPLETION | MECHANISMS | CONGENITAL MYOPATHIES | NEUROSCIENCES | CLINICAL NEUROLOGY | OPHTHALMOPLEGIA | C-TERMINAL REGION | CHANNEL ALPHA-SUBUNIT | CENTRAL CORE DISEASE | Membrane Potentials - genetics | Ryanodine - metabolism | Calcium - metabolism | Humans | Family Health | Male | Ryanodine Receptor Calcium Release Channel - metabolism | DNA Mutational Analysis - methods | Muscular Diseases - classification | Transfection - methods | Tritium - metabolism | Arginine - genetics | Caffeine - pharmacology | Adult | Female | Calcium Channels - genetics | Membrane Potentials - drug effects | NAV1.4 Voltage-Gated Sodium Channel | Phosphodiesterase Inhibitors - pharmacology | Muscular Diseases - pathology | Mutation - genetics | Lysine - genetics | Patch-Clamp Techniques | Calcium Channels, L-Type - genetics | Ryanodine Receptor Calcium Release Channel - genetics | Electron Transport Complex IV - drug effects | Sodium Channels - genetics | Calcium Channels, L-Type - metabolism | Muscle, Skeletal - pathology | Muscular Diseases - genetics | Cell Line, Transformed | Proteins | Familial periodic paralysis | Neurosciences | Children's hospitals | Genetic research | Physiological aspects | Genetic aspects | Natural pesticides | gene | Skeletal muscle ryanodine receptor (RYR1)
Journal Article