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Neurology, ISSN 0028-3878, 04/2013, Volume 80, Issue 16, pp. 1472 - 1475
Journal Article
2002, Advances in experimental medicine and biology, ISBN 9780306474170, Volume 516., x, 121
Book
Nature communications, ISSN 2041-1723, 2013, Volume 4, Issue 1, pp. 1952 - 1952
Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of... 
SKELETAL-MUSCLE | RELAXED MUTANTS | CALCIUM-RELEASE CHANNEL | ZEBRAFISH | PROTEIN | RYANODINE RECEPTOR | MULTIDISCIPLINARY SCIENCES | CA2+ CHANNELS | CONGENITAL MYOPATHY | MUTATIONS | REM | Adaptor Proteins, Signal Transducing - chemistry | Central Nervous System - metabolism | Excitation Contraction Coupling | Malignant Hyperthermia - physiopathology | Humans | Embryo, Nonmammalian - metabolism | Central Nervous System - pathology | Molecular Sequence Data | Ryanodine Receptor Calcium Release Channel - metabolism | Cleft Palate - genetics | Myotonia Congenita - physiopathology | RNA, Messenger - metabolism | Touch | Zebrafish - embryology | Mutation, Missense - genetics | Malignant Hyperthermia - genetics | Organ Specificity - genetics | Nerve Tissue Proteins - chemistry | Myofibrils - ultrastructure | Base Sequence | Swimming | Myotonia Congenita - genetics | Amino Acid Sequence | Zebrafish Proteins - chemistry | Zebrafish Proteins - metabolism | RNA, Messenger - genetics | Cleft Palate - physiopathology | Myotonia Congenita - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Zebrafish - genetics | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Adaptor Proteins, Signal Transducing - genetics | Alleles | Myofibrils - metabolism | Zebrafish Proteins - genetics | Adaptor Proteins, Signal Transducing - metabolism
Journal Article
Nature Genetics, ISSN 1061-4036, 10/2012, Volume 44, Issue 10, pp. 1080 - 1083
Journal Article
Scientific Reports, ISSN 2045-2322, 09/2016, Volume 6, Issue 1, p. 32444
Mutations in human CLC-1 chloride channel are associated with the skeletal muscle disorder myotonia congenita. The disease-causing mutant A531V manifests... 
TRANSMEMBRANE CONDUCTANCE REGULATOR | PROTEIN-QUALITY | SKELETAL-MUSCLE | MYOTONIA-CONGENITA | MULTIDISCIPLINARY SCIENCES | ENDOPLASMIC-RETICULUM | CYSTIC-FIBROSIS | QUALITY-CONTROL | MUTATIONS | PLASMA-MEMBRANE | E3 UBIQUITIN LIGASE | RNA, Small Interfering - genetics | Molecular Chaperones - metabolism | Homeodomain Proteins - metabolism | Humans | Tacrolimus Binding Proteins - metabolism | Chloride Channels - genetics | Myotonia Congenita - metabolism | Lentivirus - metabolism | Proteasome Endopeptidase Complex - drug effects | Transfection | Ubiquitination - drug effects | Proteolysis | Tumor Suppressor Proteins - genetics | HEK293 Cells | Cullin Proteins - metabolism | Lentivirus - genetics | HSP90 Heat-Shock Proteins - genetics | Myotonia Congenita - genetics | Tumor Suppressor Proteins - metabolism | Chloride Channels - antagonists & inhibitors | Genetic Vectors - chemistry | Signal Transduction | Gene Expression Regulation | Molecular Chaperones - genetics | Genetic Vectors - metabolism | Myotonia Congenita - pathology | Homeodomain Proteins - genetics | Tacrolimus Binding Proteins - genetics | Chloride Channels - metabolism | Cullin Proteins - genetics | Leupeptins - pharmacology | Patch-Clamp Techniques | Models, Biological | Cysteine Proteinase Inhibitors - pharmacology | HSP90 Heat-Shock Proteins - metabolism | Proteasome Endopeptidase Complex - metabolism | RNA, Small Interfering - metabolism
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10, p. e109926
Journal Article
10/2017, 2nd ed. 2018, ISBN 9783319564531, 392
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are... 
Neurology | Medicine & Public Health | Genetic neuromuscular disorder | Myotonia neurogenic disorder | Neurological disorder | Channelopathy | Muscular dystrophy | Myopathy | Neuromuscular diseases
eBook
Neurology, ISSN 0028-3878, 06/2018, Volume 91, Issue 4, pp. E339 - E348
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, p. e0146040
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 91 - 91
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 05/2018, Volume 27, Issue 10, pp. 1723 - 1731
Abstract Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological... 
MYOTONIA | SKELETAL-MUSCLE | SHIRPA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | EARLY-STAGE | PROTOCOL | MITOCHONDRIAL DYSFUNCTION | NEURODEGENERATION | WEIGHT | EXPRESSION | BRAIN | Index Medicus
Journal Article