Found: 173
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Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
- Published in:
- 2013
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- Publication type:
- journal article
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Effects of shared medical appointments on quality of life and cost-effectiveness for patients with a chronic neuromuscular disease. Study protocol of a randomized controlled trial.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Living with myotonic dystrophy; what can be learned from couples? A qualitative study.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
Ameliorated cellular hallmarks of myotonic dystrophy in hybrid myotubes from patient and unaffected donor cells.
- Published in:
- Stem Cell Research & Therapy, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13287-024-03913-y
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- Publication type:
- Article
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 919, doi. 10.3233/JND-230190
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- Publication type:
- Article
Involuntary painful muscle contractions in Satoyoshi syndrome: A surface electromyographic study.
- Published in:
- Movement Disorders, 2006, v. 21, n. 11, p. 2015, doi. 10.1002/mds.21088
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- Publication type:
- Article
Guillain–Barré syndrome as presenting feature in a patient with lupus nephritis, with complete resolution after cyclophosphamide treatment.
- Published in:
- Nephrology Dialysis Transplantation, 2001, v. 16, n. 4, p. 840, doi. 10.1093/ndt/16.4.840
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- Publication type:
- Article
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 535, doi. 10.3233/JND-230213
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- Publication type:
- Article
IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 2, p. 327, doi. 10.3233/JND-230063
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- Publication type:
- Article
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1055, doi. 10.3233/JND-221673
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- Publication type:
- Article
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 777, doi. 10.3233/JND-230014
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- Publication type:
- Article
Inspiratory Muscle Training in Nemaline Myopathy.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 825, doi. 10.3233/JND-221665
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- Publication type:
- Article
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 541, doi. 10.3233/JND-230018
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- Publication type:
- Article
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 1, doi. 10.3233/JND-221543
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- Publication type:
- Article
Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 129, doi. 10.3233/JND-200592
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- Publication type:
- Article
Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 1031, doi. 10.3233/JND-210634
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- Publication type:
- Article
Profiling Serum Antibodies Against Muscle Antigens in Facioscapulohumeral Muscular Dystrophy Finds No Disease-Specific Autoantibodies.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 5, p. 801, doi. 10.3233/JND-210653
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- Publication type:
- Article
N-of-1 Trials: Evidence-Based Clinical Care or Medical Research that Requires IRB Approval? A Practical Flowchart Based on an Ethical Framework.
- Published in:
- Healthcare (2227-9032), 2020, v. 8, n. 1, p. 49, doi. 10.3390/healthcare8010049
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- Publication type:
- Article
Human brain pathology in myotonic dystrophy type 1: A systematic review.
- Published in:
- Neuropathology, 2021, v. 41, n. 1, p. 3, doi. 10.1111/neup.12721
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- Publication type:
- Article
Rituximab treatment in patients with refractory inflammatory myopathies.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Rituximab treatment in patients with refractory inflammatory myopathies.
- Published in:
- Rheumatology, 2011, v. 50, n. 12, p. 2206, doi. 10.1093/rheumatology/ker088
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- Publication type:
- Article
Influence of Relatives on Fatigue Experienced by Patients with Facioscapulohumeral Dystrophy, Myotonic Dystrophy and HMSN-I.
- Published in:
- European Neurology, 2006, v. 56, n. 1, p. 24, doi. 10.1159/000095137
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- Publication type:
- Article
Needle Electromyographic Findings in 98 Patients with Myositis.
- Published in:
- European Neurology, 2006, v. 55, n. 4, p. 183, doi. 10.1159/000093866
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- Publication type:
- Article
Living with facioscapulohumeral muscular dystrophy during the first two COVID-19 outbreaks: a repeated patient survey in the Netherlands.
- Published in:
- Acta Neurologica Belgica, 2024, v. 124, n. 2, p. 559, doi. 10.1007/s13760-023-02443-3
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- Publication type:
- Article
Serum creatine kinase as predictor of clinical course in rhabdomyolysis: a 5-year intensive care survey.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD).
- Published in:
- 2016
- By:
- Publication type:
- journal article
An evaluation of 24 h Holter monitoring in patients with myotonic dystrophy type 1.
- Published in:
- EP: Europace, 2023, v. 25, n. 1, p. 156, doi. 10.1093/europace/euac104
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- Publication type:
- Article
Nucleoplasmic LAP2α-lamin A complexes are required to maintain a proliferative state in human fibroblasts.
- Published in:
- Journal of Cell Biology, 2007, v. 176, n. 2, p. 163, doi. 10.1083/jcb.200606139
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- Publication type:
- Article
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 3, p. 659, doi. 10.1093/hmg/ddu486
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- Publication type:
- Article
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 358, doi. 10.1093/hmg/ddr471
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- Publication type:
- Article
Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. R1, p. R90, doi. 10.1093/hmg/ddq161
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- Publication type:
- Article
Localization of 4q35.2 to the nuclear periphery: is FSHD a nuclear envelope disease?
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1857, doi. 10.1093/hmg/ddh205
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- Publication type:
- Article
Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review.
- Published in:
- Patient, 2019, v. 12, n. 4, p. 365, doi. 10.1007/s40271-019-00357-y
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- Publication type:
- Article
Symptomatic lipid storage in carriers for the PNPLA2 gene.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 807, doi. 10.1038/ejhg.2012.256
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- Publication type:
- Article
Symptomatic lipid storage in carriers for the PNPLA2 gene.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 892, doi. 10.1038/ejhg.2013.11
- By:
- Publication type:
- Article
Care for capabilities: Implementing the capability approach in rehabilitation of patients with neuromuscular diseases. Study protocol of the controlled before-after ReCap-NMD study.
- Published in:
- PLoS ONE, 2021, v. 16, n. 12, p. 1, doi. 10.1371/journal.pone.0261475
- By:
- Publication type:
- Article
Cognitive behaviour therapy plus aerobic exercise training to increase activity in patients with myotonic dystrophy type 1 (DM1) compared to usual care (OPTIMISTIC): study protocol for randomised controlled trial.
- Published in:
- Trials, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13063-015-0737-7
- By:
- Publication type:
- Article
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 2, p. 414, doi. 10.1093/brain/awad312
- By:
- Publication type:
- Article
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Mutation-specific effects on thin filament length in thin filament myopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Autoantibodies to cytosolic 5'-nucleotidase 1A in inclusion body myositis.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Autoantibodies to cytosolic 5′-nucleotidase 1A in inclusion body myositis.
- Published in:
- Annals of Neurology, 2013, v. 73, n. 3, p. 397, doi. 10.1002/ana.23822
- By:
- Publication type:
- Article
Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3081, doi. 10.3390/ijms23063081
- By:
- 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
- By:
- Publication type:
- Article
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
- Published in:
- Acta Neuropathologica, 2022, v. 144, n. 6, p. 1157, doi. 10.1007/s00401-022-02503-7
- By:
- Publication type:
- Article
Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken.
- Published in:
- Acta Neuropathologica, 2015, v. 129, n. 5, p. 611, doi. 10.1007/s00401-015-1384-5
- By:
- Publication type:
- Article