Found: 175
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Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Reduced specific force in patients with mild and severe facioscapulohumeral muscular dystrophy.
- 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
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- 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
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- 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
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- 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
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
Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue.
- Published in:
- Neurological Sciences, 2008, v. 29, p. 238, doi. 10.1007/s10072-008-0949-7
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- Publication type:
- Article
Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-04817-8
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- Publication type:
- Article
Semi‐automated Rasch analysis using in‐plus‐out‐of‐questionnaire log likelihood.
- Published in:
- British Journal of Mathematical & Statistical Psychology, 2021, v. 74, n. 2, p. 313, doi. 10.1111/bmsp.12218
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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
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
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- 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
Reproducibility and robustness of motor cortical stimulation to assess muscle relaxation kinetics.
- Published in:
- Physiological Reports, 2022, v. 10, n. 20, p. 1, doi. 10.14814/phy2.15491
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- Publication type:
- Article
Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 11, p. 1, doi. 10.1002/ajmg.a.63810
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- Publication type:
- Article
Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1801, doi. 10.1002/ajmg.a.62714
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- Publication type:
- Article
The other face of facioscapulohumeral muscular dystrophy: Exploring orofacial weakness using muscle ultrasound.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 5, p. 1062, doi. 10.1002/mus.28254
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- Publication type:
- Article
Three‐dimensional quantitative muscle ultrasound in patients with facioscapulohumeral dystrophy and myotonic dystrophy.
- Published in:
- Muscle & Nerve, 2023, v. 68, n. 4, p. 432, doi. 10.1002/mus.27943
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- Publication type:
- Article
Myotonic dystrophy type 1: A comparison between the adult‐ and late‐onset subtype.
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- Muscle & Nerve, 2023, v. 67, n. 2, p. 130, doi. 10.1002/mus.27766
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- Publication type:
- 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
Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Cerebral Adaptation Associated with Peripheral Nerve Recovery in Neuralgic Amyotrophy: A Randomized Controlled Trial.
- Published in:
- Neurorehabilitation & Neural Repair, 2023, v. 37, n. 1, p. 3, doi. 10.1177/15459683221145149
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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
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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
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- Publication type:
- Article
Meeting report: the 2020 FSHD International Research Congress.
- Published in:
- Skeletal Muscle, 2020, v. 10, n. 1, p. 1, doi. 10.1186/s13395-020-00253-2
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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
Cell Membrane Integrity in Myotonic Dystrophy Type 1: Implications for Therapy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0121556
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- 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
Continued misuse of orphan drug legislation: a life-threatening risk for mexiletine.
- Published in:
- European Heart Journal, 2020, v. 41, n. 5, p. 614, doi. 10.1093/eurheartj/ehaa041
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- Publication type:
- Article
Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole‐body fat‐referenced MRI: Protocol development, multicenter feasibility, and repeatability.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 2, p. 183, doi. 10.1002/mus.27638
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- Publication type:
- Article
Reachable workspace analysis is a potential measurement for impairment of the upper extremity in neuralgic amyotrophy.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 3, p. 282, doi. 10.1002/mus.27651
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- Publication type:
- Article
Guidelines on clinical presentation and management of nondystrophic myotonias.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Electrical impedance myography in facioscapulohumeral muscular dystrophy: A 1-year follow-up study.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Increased fascial thickness of the deltoid muscle in dermatomyositis and polymyositis: An ultrasound study.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The individualized neuromuscular quality of life questionnaire: Cultural translation and psychometric validation for the Dutch population.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 496, doi. 10.1002/mus.24337
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- Publication type:
- Article
Quantitative muscle ultrasound versus quantitative magnetic resonance imaging in facioscapulohumeral dystrophy.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 6, p. 968, doi. 10.1002/mus.24247
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- Publication type:
- Article
LAMA2 mutations in adult-onset muscular dystrophy with leukoencephalopathy.
- Published in:
- Muscle & Nerve, 2014, v. 49, n. 4, p. 616, doi. 10.1002/mus.24147
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- Publication type:
- Article
Exertional hyperckemia might be the first manifestation of a genetic disorder.
- Published in:
- Muscle & Nerve, 2013, v. 48, n. 3, p. 461, doi. 10.1002/mus.23826
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- Publication type:
- Article
Neuromuscular properties of the thigh muscles in patients with ehlers-danlos syndrome.
- Published in:
- Muscle & Nerve, 2013, v. 47, n. 1, p. 96, doi. 10.1002/mus.23482
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- Publication type:
- Article
Contribution of central and peripheral factors to residual fatigue in Guillain-Barré syndrome.
- Published in:
- Muscle & Nerve, 2007, v. 36, n. 1, p. 93, doi. 10.1002/mus.20739
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- Publication type:
- Article
Muscle-fiber conduction velocity and electromyography as diagnostic tools in patients with suspected inflammatory myopathy: A prospective study.
- Published in:
- Muscle & Nerve, 2004, v. 29, n. 1, p. 46, doi. 10.1002/mus.10519
- By:
- Publication type:
- Article
Concomitant dermatomyositis and myasthenia gravis presenting with respiratory insufficiency.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Muscle function in a patient with Brody's disease.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Semi-automated Rasch analysis with differential item functioning.
- Published in:
- Behavior Research Methods, 2023, v. 55, n. 6, p. 3129, doi. 10.3758/s13428-022-01947-9
- By:
- Publication type:
- Article
Muscle Uridine Diphosphate-Hexosamines Do Not Decrease Despite Correction of Hyperglycemia-Induced Insulin Resistance in Type 2 Diabetes.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 11, p. 5179, doi. 10.1210/jc.2002-020440
- By:
- Publication type:
- 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