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Compound heterozygous RYR1‐RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival.
- Published in:
- FASEB Journal, 2024, v. 38, n. 20, p. 1, doi. 10.1096/fj.202401189R
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- Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31088-8
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- Publication type:
- Article
Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31088-8
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- Publication type:
- Article
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy.
- Published in:
- 2007
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- Publication type:
- journal article
Molecular Diversity of Voltage-Dependent Calcium Channel.
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- Annals of the New York Academy of Sciences, 1993, v. 707, n. 1, p. 87, doi. 10.1111/j.1749-6632.1993.tb38045.x
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- Publication type:
- Article
Receptor-Mediated Inotropic Effect in Heart.
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- Annals of the New York Academy of Sciences, 1991, v. 639, n. 1, p. 398, doi. 10.1111/j.1749-6632.1991.tb17328.x
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- Publication type:
- Article
Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.
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- Biochemical Journal, 2017, v. 474, n. 16, p. 2749, doi. 10.1042/BCJ20170282
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- Article
Checking your SOCCs and feet: the molecular mechanisms of Ca<sup>2+</sup> entry in skeletal muscle.
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- Journal of Physiology, 2009, v. 587, n. 13, p. 3139, doi. 10.1113/jphysiol.2009.172148
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- Article
Differential dependence of store-operated and excitation-coupled Ca<sup>2+</sup> entry in skeletal muscle on STIM1 and Orai1.
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- Journal of Physiology, 2008, v. 586, n. 20, p. 4815, doi. 10.1113/jphysiol.2008.160481
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- Publication type:
- Article
Prolonged depolarization promotes fast gating kinetics of L-type Ca<sup>2+</sup> channels in mouse skeletal myotubes.
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- Journal of Physiology, 2000, v. 529, n. 3, p. 647, doi. 10.1111/j.1469-7793.2000.00647.x
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- Article
Inducible depletion of adult skeletal muscle stem cells impairs the regeneration of neuromuscular junctions.
- Published in:
- eLife, 2015, p. 1, doi. 10.7554/eLife.09221
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- Article
Altered Ca 2+ Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 7, p. 424, doi. 10.3390/metabo11070424
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- Publication type:
- Article
Dendritic cell-specific transmembrane protein is required for synovitis and bone resorption in inflammatory arthritis.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.1026574
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- Publication type:
- Article
AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation.
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- Nature Medicine, 2012, v. 18, n. 2, p. 244, doi. 10.1038/nm.2598
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- Publication type:
- Article
Exercise-dependent formation of new junctions that promote STIM1-Orai1 assembly in skeletal muscle.
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- Scientific Reports, 2017, v. 7, n. 1, p. 1, doi. 10.1038/s41598-017-14134-0
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- Publication type:
- Article
Endurance exercise attenuates juvenile irradiation-induced skeletal muscle functional decline and mitochondrial stress.
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- Skeletal Muscle, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13395-022-00291-y
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- Article
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
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- Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00243-4
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- Article
Regions of ryanodine receptors that influence activation by the dihydropyridine receptor β<sub>1a</sub> subunit.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0049-3
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- Publication type:
- Article
Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0035-9
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- Publication type:
- Article
Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0035-9
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- Publication type:
- Article
Ca<sup>2+</sup> permeation and/or binding to Ca<sub>V</sub>1.1 fine-tunes skeletal muscle Ca<sup>2+</sup> signaling to sustain muscle function.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-014-0027-1
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- Publication type:
- Article
Ca<sup>2+</sup> permeation and/or binding to CaV1.1 fine-tunes skeletal muscle Ca<sup>2+</sup> signaling to sustain muscle function.
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- Skeletal Muscle, 2015, v. 5, n. 1, p. 53, doi. 10.1186/s13395-014-0027-1
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- Publication type:
- Article
Murine Fig4 is dispensable for muscle development but required for muscle function.
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- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-21
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- Article
Accelerated Activation of SOCE Current in Myotubes from Two Mouse Models of Anesthetic- and Heat-Induced Sudden Death.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077633
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- Publication type:
- Article
Ca<sup>2+</sup> Release in Muscle Fibers Expressing R4892W and G4896V Type 1 Ryanodine Receptor Disease Mutants.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054042
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- Publication type:
- Article
Allele-Specific Gene Silencing in Two Mouse Models of Autosomal Dominant Skeletal Myopathy.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049757
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- Publication type:
- Article
4-Aminopyridine attenuates muscle atrophy after sciatic nerve crush injury in mice.
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- 2019
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- Publication type:
- journal article
Tamoxifen therapy in a murine model of myotubular myopathy.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07057-5
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- Publication type:
- Article
Low serum promotes maturation of excitation–contraction coupling in myotubes.
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- Pflügers Archiv: European Journal of Physiology, 2000, v. 439, n. 5, p. 555, doi. 10.1007/s004240050977
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- Article
Cardiac metabolic effects of K<sub>Na</sub>1.2 channel deletion and evidence for its mitochondrial localization.
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- FASEB Journal, 2018, v. 32, n. 11, p. 6135, doi. 10.1096/fj.201800139R
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- Publication type:
- Article
Orai1 enhances muscle endurance by promoting fatigue-resistant type I fiber content but not through acute store-operated Ca<sup>2+</sup> entry.
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- FASEB Journal, 2016, v. 30, n. 12, p. 4109, doi. 10.1096/fj.201600621R
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- Article
Mitochondrial superoxide flashes: metabolic biomarkers of skeletal muscle activity and disease.
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- FASEB Journal, 2011, v. 25, n. 9, p. 3068, doi. 10.1096/fj.11-187252
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- Publication type:
- Article
Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice.
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- FASEB Journal, 2009, v. 23, n. 6, p. 1710, doi. 10.1096/fj.08-121335
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- Publication type:
- Article
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models.
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- 2020
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- Publication type:
- journal article
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1067, doi. 10.3233/JND-240029
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- Publication type:
- Article
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 135, doi. 10.3233/JND-221609
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- Publication type:
- Article
Two zebrafish cacna1s loss-of-function variants provide models of mild and severe CACNA1S-related myopathy.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 3, p. 254, doi. 10.1093/hmg/ddad178
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- Publication type:
- Article
Orai1-dependent calcium entry promotes skeletal muscle growth and limits fatigue.
- Published in:
- Nature Communications, 2013, v. 4, n. 11, p. 2805, doi. 10.1038/ncomms3805
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- Publication type:
- Article
Sarcoplasmic reticulum-mitochondrial through-space coupling in skeletal muscle.
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- Applied Physiology, Nutrition & Metabolism, 2009, v. 34, n. 3, p. 389, doi. 10.1139/H09-044
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- Publication type:
- Article
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for the Use of Potent Volatile Anesthetic Agents and Succinylcholine in the Context of RYR1 or CACNA1S Genotypes.
- Published in:
- Clinical Pharmacology & Therapeutics, 2019, v. 105, n. 6, p. 1338, doi. 10.1002/cpt.1319
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- Publication type:
- Article
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.
- Published in:
- FASEB Journal, 2006, v. 20, n. 2, p. 329, doi. 10.1096/fj.05-4497fje
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- Publication type:
- Article
Iron Dysregulation in Mitochondrial Dysfunction and Alzheimer's Disease.
- Published in:
- Antioxidants, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/antiox11040692
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- Publication type:
- Article
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 23, p. 4087, doi. 10.1093/hmg/ddac145
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- Publication type:
- Article
Mouse model of severe recessive RYR1-related myopathy.
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- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3024, doi. 10.1093/hmg/ddz105
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- Publication type:
- Article
Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4328, doi. 10.1093/hmg/ddw266
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- Publication type:
- Article
Enhanced Ca2+ influx from STIM1–Orai1 induces muscle pathology in mouse models of muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3706, doi. 10.1093/hmg/ddu079
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- Publication type:
- Article
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of CaV1.1 calcium channel.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 6, p. 1312, doi. 10.1093/hmg/ddr568
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- Publication type:
- Article
Neuronal NTPDase3 Mediates Extracellular ATP Degradation in Trigeminal Nociceptive Pathway.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0164028
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- Article
Cheng et al. reply.
- Published in:
- Nature, 2014, v. 514, n. 7523, p. E14, doi. 10.1038/nature13859
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- Article
Constitutive, Muscle-Specific Orai1 Knockout Results in the Incomplete Assembly of Ca 2+ Entry Units and a Reduction in the Age-Dependent Formation of Tubular Aggregates.
- Published in:
- Biomedicines, 2024, v. 12, n. 8, p. 1651, doi. 10.3390/biomedicines12081651
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- Publication type:
- Article