Found: 39
Select item for more details and to access through your institution.
Autophagy is affected in patients with hypokalemic periodic paralysis: an involvement in vacuolar myopathy?
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01212-8
- By:
- Publication type:
- Article
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 24, p. 9621, doi. 10.3390/ijms21249621
- By:
- Publication type:
- Article
Preserved Capacity for Adaptations in Strength and Muscle Regulatory Factors in Elderly in Response to Resistance Exercise Training and Deconditioning.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2188, doi. 10.3390/jcm9072188
- By:
- Publication type:
- Article
Novel Homozygous Truncating Variant Widens the Spectrum of Early-Onset Multisystemic SYNE1 Ataxia.
- Published in:
- Cerebellum, 2022, v. 21, n. 3, p. 514, doi. 10.1007/s12311-021-01308-w
- By:
- Publication type:
- Article
Glycogen Synthesis in Glycogenin 1–Deficient Patients: A Role for Glycogenin 2 in Muscle.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2017, v. 102, n. 8, p. 2690, doi. 10.1210/jc.2017-00399
- By:
- Publication type:
- Article
Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Muscle Atrophy Reversed by Growth Factor Activation of Satellite Cells in a Mouse Muscle Atrophy Model.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100594
- By:
- Publication type:
- Article
Protein Turnover and Cellular Stress in Mildly and Severely Affected Muscles from Patients with Limb Girdle Muscular Dystrophy Type 2I.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066929
- By:
- Publication type:
- Article
Muscle biopsy and MRI findings in ANO5‐related myopathy.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 6, p. 743, doi. 10.1002/mus.27419
- By:
- Publication type:
- Article
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A pilot study of muscle plasma protein changes after exercise.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 2, p. 261, doi. 10.1002/mus.23909
- By:
- Publication type:
- Article
Resistance training in patients with limb-girdle and becker muscular dystrophies.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 2, p. 163, doi. 10.1002/mus.23491
- By:
- Publication type:
- Article
Therapeutics for Duchenne muscular dystrophy: current approaches and future directions.
- Published in:
- Journal of Molecular Medicine, 2004, v. 82, n. 2, p. 102, doi. 10.1007/s00109-003-0484-1
- By:
- Publication type:
- Article
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0815-2
- By:
- Publication type:
- Article
β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 6, p. 540, doi. 10.1002/jmd2.12324
- By:
- Publication type:
- Article
Endurance training improves fitness and strength in patients with Becker muscular dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 11, p. 2824, doi. 10.1093/brain/awn189
- By:
- Publication type:
- Article
Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy.
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 12, p. 3402, doi. 10.1093/brain/awl149
- By:
- Publication type:
- Article
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Effect of sildenafil on skeletal and cardiac muscle in Becker muscular dystrophy.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 550, doi. 10.1002/ana.24216
- By:
- Publication type:
- Article
Myostatin propeptide-mediated amelioration of dystrophic pathophysiology.
- Published in:
- FASEB Journal, 2005, v. 19, n. 6, p. 543, doi. 10.1096/fj.04-2796com
- By:
- Publication type:
- Article
Hypokalemic periodic paralysis: a 3-year follow-up study.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 6057, doi. 10.1007/s00415-023-11964-z
- By:
- Publication type:
- Article
Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 8, p. 2084, doi. 10.1007/s00415-013-6934-y
- By:
- Publication type:
- Article
No effect of resveratrol in patients with mitochondrial myopathy: A cross‐over randomized controlled trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1186, doi. 10.1002/jimd.12393
- By:
- Publication type:
- Article
Functional improvement of dystrophic muscle by myostatin blockade.
- Published in:
- Nature, 2002, v. 420, n. 6914, p. 418, doi. 10.1038/nature01154
- By:
- Publication type:
- Article
Pulmonary vascular adaptations to hypoxia in elite breath-hold divers.
- Published in:
- Frontiers in Physiology, 2024, p. 1, doi. 10.3389/fphys.2024.1296537
- By:
- Publication type:
- Article
Hemoglobin concentration and blood shift during dry static apnea in elite breath hold divers.
- Published in:
- Frontiers in Physiology, 2024, p. 01, doi. 10.3389/fphys.2024.1305171
- By:
- Publication type:
- Article
Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance.
- Published in:
- Frontiers in Neurology, 2020, p. 1, doi. 10.3389/fneur.2020.00541
- By:
- Publication type:
- Article
Growth Factors Do Not Improve Muscle Function in Young or Adult mdx Mice.
- Published in:
- Biomedicines, 2022, v. 10, n. 2, p. 304, doi. 10.3390/biomedicines10020304
- By:
- Publication type:
- Article
Antimyostatin Treatment in Health and Disease: The Story of Great Expectations and Limited Success.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 3, p. 533, doi. 10.3390/cells10030533
- By:
- Publication type:
- Article
Adaptations in Mitochondrial Enzymatic Activity Occurs Independent of Genomic Dosage in Response to Aerobic Exercise Training and Deconditioning in Human Skeletal Muscle.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 3, p. 237, doi. 10.3390/cells8030237
- By:
- Publication type:
- Article
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1234, doi. 10.1002/humu.24415
- By:
- Publication type:
- Article
Myopathy can be a key phenotype of membrin (GOSR2) deficiency.
- Published in:
- Human Mutation, 2021, v. 42, n. 9, p. 1101, doi. 10.1002/humu.24247
- By:
- Publication type:
- Article
A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1507, doi. 10.1002/humu.24066
- By:
- Publication type:
- Article
Deletion of exon 16 of the dystrophin gene is not associated with disease.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 205, doi. 10.1002/humu.9477
- By:
- Publication type:
- Article
Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-41414-8
- By:
- Publication type:
- Article
Extreme Hypoxia Causing Brady-Arrythmias During Apnea in Elite Breath-Hold Divers.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.712573
- By:
- Publication type:
- Article
Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 74, doi. 10.3390/genes13010074
- By:
- Publication type:
- Article
Heregulin-induced epigenetic regulation of the utrophin-A promoter
- Published in:
- FEBS Letters, 2007, v. 581, n. 22, p. 4153, doi. 10.1016/j.febslet.2007.07.021
- By:
- Publication type:
- Article
Palbociclib in combination with simvastatin induce severe rhabdomyolysis: a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article