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Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- 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
- By:
- 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
Needle Electromyographic Findings in 98 Patients with Myositis.
- Published in:
- European Neurology, 2006, v. 55, n. 4, p. 183, doi. 10.1159/000093866
- By:
- 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
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
- By:
- 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
- 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
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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
Autoantibodies to Cytosolic 5'-Nucleotidase 1A in Primary Sjögren's Syndrome and Systemic Lupus Erythematosus.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01200
- By:
- Publication type:
- Article
Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1203, doi. 10.1038/ejhg.2012.108
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- Publication type:
- Article
Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 567, doi. 10.1038/ejhg.2010.233
- By:
- Publication type:
- Article
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 921, doi. 10.1038/ejhg.2008.39
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- Publication type:
- Article
NA-CONTROL: a study protocol for a randomised controlled trial to compare specific outpatient rehabilitation that targets cerebral mechanisms through relearning motor control and uses self-management strategies to improve functional capability of the upper extremity, to usual care in patients with neuralgic amyotrophy.
- Published in:
- 2019
- By:
- Publication type:
- Journal Article
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
- Published in:
- Nature Genetics, 2012, v. 44, n. 12, p. 1370, doi. 10.1038/ng.2454
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- Publication type:
- Article
Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 4, p. 1, doi. 10.1371/journal.pgen.1003415
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- Publication type:
- Article
The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
- Published in:
- Skeletal Muscle, 2023, v. 13, n. 1, p. 1, doi. 10.1186/s13395-022-00310-y
- By:
- Publication type:
- Article
Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 149, doi. 10.1111/cge.14031
- By:
- Publication type:
- Article
Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 7, p. 3682, doi. 10.1007/s00415-022-10990-7
- By:
- Publication type:
- Article
The socioeconomic burden of facioscapulohumeral muscular dystrophy.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 12, p. 4778, doi. 10.1007/s00415-021-10591-w
- By:
- Publication type:
- Article
Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 11, p. 2646, doi. 10.1007/s00415-018-9037-y
- By:
- Publication type:
- Article
Distinct Disease Phases in Muscles of Facioscapulohumeral Dystrophy Patients Identified by MR Detected Fat Infiltration.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085416
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- Publication type:
- Article
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 88, doi. 10.1186/1750-1172-7-88
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- Publication type:
- Article
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 73, doi. 10.1186/1750-1172-7-73
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- Publication type:
- 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:
- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0314-4
- By:
- Publication type:
- Article
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
- Published in:
- BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0294-4
- By:
- Publication type:
- 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
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-144
- By:
- Publication type:
- Article
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-70
- By:
- Publication type:
- Article
Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.
- Published in:
- 2013
- By:
- 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
Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol.
- Published in:
- BMC Neurology, 2011, v. 11, n. 1, p. 29, doi. 10.1186/1471-2377-11-29
- By:
- Publication type:
- Article
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial.
- Published in:
- BMC Neurology, 2010, v. 10, p. 56, doi. 10.1186/1471-2377-10-56
- By:
- Publication type:
- Article
The FSHD muscle-blood biomarker: a circulating transcriptomic biomarker for clinical severity in facioscapulohumeral muscular dystrophy.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad221
- By:
- Publication type:
- Article
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
- Published in:
- Brain Communications, 2022, v. 4, n. 6, p. 1, doi. 10.1093/braincomms/fcac292
- By:
- Publication type:
- Article
Visuomotor processing is altered after peripheral nerve damage in neuralgic amyotrophy.
- Published in:
- Brain Communications, 2022, v. 4, n. 1, p. 1, doi. 10.1093/braincomms/fcac034
- By:
- Publication type:
- Article
Screening for antecedent Campylobacter jejuni infections and anti-ganglioside antibodies in idiopathic neuralgic amyotrophy.
- Published in:
- 2011
- By:
- Publication type:
- Letter
The phenotype of the Gly94fsX222 PMP22 insertion.
- Published in:
- Journal of the Peripheral Nervous System, 2011, v. 16, n. 2, p. 113, doi. 10.1111/j.1529-8027.2011.00333.x
- By:
- Publication type:
- Article
Scleroderma-polymyositis overlap syndrome versus idiopathic polymyositis and systemic sclerosis: a descriptive study on clinical features and myopathology.
- Published in:
- Arthritis Research & Therapy, 2014, v. 16, n. 3, p. 1, doi. 10.1186/ar4562
- By:
- Publication type:
- Article
Patients with Systemic Sclerosis/polymyositis Overlap Have a Worse Survival Rate Than Patients Without It.
- Published in:
- 2016
- By:
- Publication type:
- journal article