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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
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- Publication type:
- Article
Mutation Load of Single, Large-Scale Deletions of mtDNA in Mitotic and Postmitotic Tissues.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.547638
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- Publication type:
- Article
The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.
- Published in:
- 2017
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- Publication type:
- journal article
Reply: Dominant LGMD2A: alternative diagnosis or hidden digenism?
- Published in:
- 2017
- By:
- Publication type:
- Letter
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.
- Published in:
- 2016
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- Publication type:
- journal article
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
- Published in:
- 2016
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- Publication type:
- journal article
Axial myopathy: an overlooked feature of muscle diseases.
- Published in:
- 2016
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- Publication type:
- journal 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
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- Publication type:
- Article
Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6059, doi. 10.3390/ijms21176059
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- Publication type:
- Article
Exercise Testing, Physical Training and Fatigue in Patients with Mitochondrial Myopathy Related to mtDNA Mutations.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 8, p. 1796, doi. 10.3390/jcm10081796
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- 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
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- Publication type:
- Article
SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.
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- Cerebellum, 2017, v. 16, n. 1, p. 62, doi. 10.1007/s12311-016-0765-1
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- Publication type:
- Article
Role of 5′AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease.
- Published in:
- Journal of Physiology, 2002, v. 541, n. 3, p. 979, doi. 10.1113/jphysiol.2002.018044
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- Publication type:
- Article
The exercise metaboreflex is maintained in the absence of muscle acidosis: insights from muscle microdialysis in humans with McArdle's disease.
- Published in:
- Journal of Physiology, 2001, v. 537, n. 2, p. 641, doi. 10.1111/j.1469-7793.2001.00641.x
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- Publication type:
- Article
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-29759-7
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- Publication type:
- Article
Low skeletal muscle mass and liver fibrosis in children with cerebral palsy.
- Published in:
- European Journal of Pediatrics, 2023, v. 182, n. 11, p. 5047, doi. 10.1007/s00431-023-05177-9
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- Publication type:
- Article
Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2251, doi. 10.1002/ajmg.a.62753
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- Publication type:
- Article
Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1‐related rhabdomyolysis or myalgia.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 4, p. 753, doi. 10.1002/mus.28219
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- Publication type:
- Article
Diagnostic workup of rhabdomyolysis: Genetic testing should precede neurophysiological testing.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 4, p. 727, doi. 10.1002/mus.28205
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- Publication type:
- Article
Diagnosis and management of metabolic myopathies.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 3, p. 250, doi. 10.1002/mus.27840
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- 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
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- Publication type:
- Article
Glycogen Synthesis in Glycogenin 1-Deficient Patients: A Role for Glycogenin 2 in Muscle.
- Published in:
- 2017
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- Publication type:
- journal article
Insulin resistance and increased muscle cytokine levels in patients with mitochondrial myopathy.
- Published in:
- 2014
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- Publication type:
- journal article
Fat and carbohydrate metabolism during exercise in phosphoglucomutase type 1 deficiency.
- Published in:
- 2013
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- Publication type:
- Journal Article
Exercise Therapy in Spinobulbar Muscular Atrophy and Other Neuromuscular Disorders.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 388, doi. 10.1007/s12031-015-0686-3
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- Publication type:
- Article
Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy.
- Published in:
- Journal of Molecular Neuroscience, 2016, v. 58, n. 3, p. 394, doi. 10.1007/s12031-015-0704-5
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- Publication type:
- Article
Altered somatosensory neurovascular response in patients with Becker muscular dystrophy.
- Published in:
- Brain & Behavior, 2018, v. 8, n. 6, p. 1, doi. 10.1002/brb3.985
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- Publication type:
- Article
Aerobic anti-gravity exercise in patients with Charcot-Marie-Tooth disease types 1A and X: A pilot study.
- Published in:
- Brain & Behavior, 2017, v. 7, n. 12, p. n/a, doi. 10.1002/brb3.794
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- Publication type:
- Article
Quantitative Muscle MRI and Clinical Findings in Women With Pathogenic Dystrophin Gene Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.707837
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- Publication type:
- Article
Cardiac Involvement in Women With Pathogenic Dystrophin Gene Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.707838
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- Publication type:
- Article
Patients With Becker Muscular Dystrophy Have Severe Paraspinal Muscle Involvement.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.613483
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- Publication type:
- Article
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
- Published in:
- Skeletal Muscle, 2018, v. 8, n. 1, p. N.PAG, doi. 10.1186/s13395-018-0170-1
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- Publication type:
- Article
Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients.
- Published in:
- Skeletal Muscle, 2011, v. 1, n. 1, p. 2, doi. 10.1186/2044-5040-1-15
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- Publication type:
- Article
Decreased Variability of the 6-Minute Walk Test by Heart Rate Correction in Patients with Neuromuscular Disease.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114273
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- Publication type:
- 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
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- Publication type:
- Article
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0090377
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- Publication type:
- Article
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070993
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- 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
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- Publication type:
- Article
Axial muscle involvement in patients with limb girdle muscular dystrophy type R9.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 4, p. 405, doi. 10.1002/mus.27491
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- Publication type:
- Article
Home‐based gait analysis as an exploratory endpoint during a multicenter phase 1 trial in limb girdle muscular dystrophy type R2 and facioscapulohumeral muscular dystrophy.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 2, p. 237, doi. 10.1002/mus.27446
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- 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
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- Publication type:
- Article
Moderate-intensity aerobic exercise improves physical fitness in bethlem myopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.
- Published in:
- 2019
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- Publication type:
- journal article
Correlation between myasthenia gravis−activities of daily living (MG‐ADL) and quantitative myasthenia gravis (QMG) assessments of anti−acetylcholine receptor antibody−positive refractory generalized myasthenia gravis in the phase 3 regain study
- Published in:
- 2018
- By:
- Publication type:
- Letter
Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Resistance training and aerobic training improve muscle strength and aerobic capacity in chronic inflammatory demyelinating polyneuropathy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Aerobic training in myotonia congenita: Effect on myotonia and fitness.
- Published in:
- 2017
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- Publication type:
- journal article
Body weight-supported training in Becker and limb girdle 2I muscular dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
- Published in:
- 2016
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- Publication type:
- journal article
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
- Published in:
- 2015
- By:
- Publication type:
- journal article