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Medicine, ISSN 0025-7974, 06/2018, Volume 97, Issue 22, pp. e10785 - e10785
Journal Article
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 | Index Medicus
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 07/2017, Volume 470, pp. 1 - 7
Myotonia Congenita (MC) is a nondystrophic skeletal muscle disease characterized by muscle stiffness, weakness, delayed skeletal relaxation and hypertrophic... 
Thomsen disease | NGS | Becker disease | CLCN1 | Myotonia Congenita | CLC CHLORIDE CHANNELS | GENOMICS | VARIANTS | MUTATIONS | FUTURE | SPECTRUM | MEDICAL LABORATORY TECHNOLOGY | Gene Frequency | Humans | Exons - genetics | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Chloride Channels - genetics | Mutation | Myotonia Congenita - genetics | Muscles | Genes | Analysis | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2014, Volume 9, Issue 10, pp. e109926 - e109926
Journal Article
Journal Article
NEUROLOGY, ISSN 0028-3878, 06/2012, Volume 78, Issue 24, pp. 1953 - 1958
Journal Article
The Journal of Physiology, ISSN 0022-3751, 08/2012, Volume 590, Issue 15, pp. 3449 - 3464
•  ClC channels are double‐barrelled channels with two ion conduction pathways per individual channel. •  Substituting cysteine 277 by serine constitutively... 
DIMER INTERFACE | PHYSIOLOGY | MECHANISM | STOICHIOMETRY | STATE | DOMINANT | RESIDUE | GATE | MOLECULAR-BASIS | SELECTIVITY | NEUROSCIENCES | PERMEATION | Humans | Middle Aged | Male | Myotonia Congenita - physiopathology | Young Adult | HEK293 Cells | Adult | Female | Mutation | Myotonia Congenita - genetics | Chlorides - physiology | Ion Channel Gating | Chloride Channels - physiology | Rodents | Permeability | Index Medicus | Molecular and Cellular
Journal Article