Found: 57
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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
Genotype-phenotype correlations in recessive RYR1-related myopathies.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-117
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- Article
Genotype-phenotype correlations in recessive RYR1-related myopathies.
- Published in:
- 2013
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- Publication type:
- journal article
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4693, doi. 10.1172/JCI75199
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- Article
Predicting In Vivo Soft Tissue Masses of the Lower Extremity Using Segment Anthropometric Measures and DXA.
- Published in:
- Journal of Applied Biomechanics, 2005, v. 21, n. 4, p. 371, doi. 10.1123/jab.21.4.371
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- Publication type:
- Article
Mechanical Modeling of Tibial Axial Accelerations Following Impulsive Heel Impact.
- Published in:
- Journal of Applied Biomechanics, 2000, v. 16, n. 3, p. 276, doi. 10.1123/jab.16.3.276
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- Publication type:
- Article
Identification of Kinetic and Temporal Factors Related to Vertical Jump Performance.
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- Journal of Applied Biomechanics, 1993, v. 9, n. 2, p. 95, doi. 10.1123/jab.9.2.95
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- Publication type:
- Article
Treating pediatric neuromuscular disorders: The future is now.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 804, doi. 10.1002/ajmg.a.38418
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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
Murine Fig4 is dispensable for muscle development but required for muscle function.
- Published in:
- Skeletal Muscle, 2013, v. 3, n. 1, p. 1, doi. 10.1186/2044-5040-3-21
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- Publication type:
- Article
Two Dynamin-2 Genes Are Required for Normal Zebrafish Development.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0055888
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- Publication type:
- Article
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
- Published in:
- Muscle & Nerve, 2017, v. 56, n. 5, p. E41, doi. 10.1002/mus.25737
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- Publication type:
- Article
Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0123-6
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- Publication type:
- 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
Seven protein tyrosine phosphatases are differentially expressed in the developing rat brain.
- Published in:
- Journal of Comparative Neurology, 1995, v. 351, n. 4, p. 617, doi. 10.1002/cne.903510410
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- Publication type:
- Article
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
- Published in:
- Nature, 2007, v. 448, n. 7149, p. 68, doi. 10.1038/nature05876
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- Publication type:
- Article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
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- Publication type:
- Article
Membrane-myofibril cross-talk in myofibrillogenesis and in muscular dystrophy pathogenesis: lessons from the zebrafish.
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- Frontiers in Physiology, 2014, v. 4/5, p. 1, doi. 10.3389/fphys.2014.00014
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- Publication type:
- Article
De novo phosphoinositide synthesis in zebrafish is required for triad formation but not essential for myogenesis.
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- PLoS ONE, 2020, v. 15, n. 8, p. 1, doi. 10.1371/journal.pone.0231364
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- Publication type:
- Article
Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 4, p. 1115, doi. 10.1093/brain/aws036
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- Publication type:
- Article
Swimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.
- Published in:
- FEBS Journal, 2013, v. 280, n. 17, p. 4187, doi. 10.1111/febs.12412
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- Publication type:
- Article
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.
- Published in:
- 2016
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- Publication type:
- journal article
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 503, doi. 10.3233/JND-210781
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- Publication type:
- Article
Utility of metabolic screening in neurological presentations of infancy.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 7, p. 1132, doi. 10.1002/acn3.51076
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- Publication type:
- Article
Membrane Traffic and Muscle: Lessons from Human Disease.
- Published in:
- Traffic, 2008, v. 9, n. 7, p. 1035, doi. 10.1111/j.1600-0854.2008.00716.x
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- Publication type:
- Article
Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 12, p. 1036, doi. 10.1093/hmg/ddae033
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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
Methylenetetrahydrofolate reductase deficiency and high-dose FA supplementation disrupt embryonic development of energy balance and metabolic homeostasis in zebrafish.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1575, doi. 10.1093/hmg/ddac308
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- Publication type:
- Article
Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.
- Published in:
- Nature Communications, 2013, v. 4, n. 6, p. 1952, doi. 10.1038/ncomms2952
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- Publication type:
- Article
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
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- Clinical Genetics, 2023, v. 103, n. 3, p. 288, doi. 10.1111/cge.14262
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- Publication type:
- Article
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
- Published in:
- 2020
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- Publication type:
- journal article
Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 5, p. 733, doi. 10.1093/hmg/ddab278
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- Publication type:
- Article
Insights into wild-type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 24, p. 4186, doi. 10.1093/hmg/ddz260
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- Publication type:
- Article
Mouse model of severe recessive RYR1-related myopathy.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 18, p. 3024, doi. 10.1093/hmg/ddz105
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- Publication type:
- Article
Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 17, p. 4651, doi. 10.1093/hmg/ddu185
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- Publication type:
- Article
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 811, doi. 10.1093/hmg/ddr512
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- Publication type:
- Article
A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172648
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- Publication type:
- Article
Zebrafish Models of LAMA2 -Related Congenital Muscular Dystrophy (MDC1A).
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00122
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- Publication type:
- Article
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
- Published in:
- Acta Neuropathologica, 2020, v. 140, n. 2, p. 231, doi. 10.1007/s00401-020-02164-4
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- Publication type:
- Article
Consensus Statement on Standard of Care for Congenital Myopathies.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 3, p. 363, doi. 10.1177/0883073812436605
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- Publication type:
- Article
Neuromuscular effects of G93A-SOD1 expression in zebrafish.
- Published in:
- Molecular Neurodegeneration, 2012, v. 7, n. 1, p. 44, doi. 10.1186/1750-1326-7-44
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- Publication type:
- Article
Kindlin-2 is required for myocyte elongation and is essential for myogenesis.
- Published in:
- BMC Cell Biology, 2008, v. 9, p. 1, doi. 10.1186/1471-2121-9-36
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- Publication type:
- Article
Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 6, p. 1, doi. 10.1371/journal.pgen.1002104
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- Publication type:
- Article
Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 2, p. 1, doi. 10.1371/journal.pgen.1001295
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- Publication type:
- Article
Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000372
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- Publication type:
- Article
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3614, doi. 10.1093/hmg/ddq277
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- Publication type:
- Article
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-49738-4
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- Publication type:
- Article
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene ( PAFAH1B1).
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 4, doi. 10.1002/humu.10028
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- Publication type:
- Article