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Genome-Wide Association Study of Late-Onset MyastheniaGravis: Confirmation of TNFRSF11A and Identification ofZBTB10 and Three Distinct HLA Associations.
- Published in:
- Molecular Medicine, 2015, v. 21, n. 1, p. 769, doi. 10.2119/molmed.2015.00232
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- Article
Compliance to DMD Care Considerations in the Netherlands.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 6, p. 927, doi. 10.3233/JND-210670
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- Publication type:
- Article
Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines.
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- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 503, doi. 10.3233/JND-200586
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- Publication type:
- Article
DMD transcript imbalance determines dystrophin levels.
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- FASEB Journal, 2013, v. 27, n. 12, p. 4909, doi. 10.1096/fj.13-232025
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- Article
Evaluation of skeletal muscle DTI in patients with duchenne muscular dystrophy.
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- NMR in Biomedicine, 2015, v. 28, n. 11, p. 1589, doi. 10.1002/nbm.3427
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- Publication type:
- Article
The expanded clinical spectrum of anti-GABABR encephalitis and added value of KCTD16 autoantibodies.
- Published in:
- 2019
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- Publication type:
- journal article
Risk for myasthenia gravis maps to a <sup>151</sup>Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 6, p. 927, doi. 10.1002/ana.23691
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- Publication type:
- Article
Single-fiber electromyography in experimental autoimmune myasthenia gravis.
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- Muscle & Nerve, 1990, v. 13, n. 6, p. 485, doi. 10.1002/mus.880130604
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- Publication type:
- Article
Efgartigimod improved health-related quality of life in generalized myasthenia gravis: results from a randomized, double-blind, placebo-controlled, phase 3 study (ADAPT).
- Published in:
- Journal of Neurology, 2023, v. 270, n. 4, p. 2096, doi. 10.1007/s00415-022-11517-w
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- Publication type:
- Article
Passive transfer models of myasthenia gravis with muscle‐specific kinase antibodies.
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- Annals of the New York Academy of Sciences, 2018, v. 1413, n. 1, p. 111, doi. 10.1111/nyas.13543
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- Publication type:
- Article
Neuromuscular synapse electrophysiology in myasthenia gravis animal models.
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- Annals of the New York Academy of Sciences, 2018, v. 1412, n. 1, p. 146, doi. 10.1111/nyas.13507
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- Publication type:
- Article
Assessing facial weakness in myasthenia gravis with facial recognition software and deep learning.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1314, doi. 10.1002/acn3.51823
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- Publication type:
- Article
Age-Related Longitudinal Changes in Metabolic Energy Expenditure during Walking in Boys with Duchenne Muscular Dystrophy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115200
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- Publication type:
- Article
Improved olefinic fat suppression in skeletal muscle DTI using a magnitude-based dixon method.
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- Magnetic Resonance in Medicine, 2018, v. 79, n. 1, p. 152, doi. 10.1002/mrm.26655
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- Publication type:
- Article
Characterization of neuromuscular synapse function abnormalities in multiple Duchenne muscular dystrophy mouse models.
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- European Journal of Neuroscience, 2016, v. 43, n. 12, p. 1623, doi. 10.1111/ejn.13249
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- Publication type:
- Article
Aggregated N-of-1 trials for unlicensed medicines for small populations: an assessment of a trial with ephedrine for myasthenia gravis.
- Published in:
- 2017
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- Publication type:
- journal article
From rationing to rationality: an n-of-one trial service for off-label medicines for rare (neuromuscular) diseases.
- Published in:
- 2012
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- Publication type:
- Abstract
Exon skipping for DMD.
- Published in:
- 2012
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- Publication type:
- Abstract
Naviko paieška esant paraneoplaziniam sindromui: EFNS darbo grupės pranešimas.
- Published in:
- Neurologijos Seminarai, 2011, v. 15, n. 3, p. 215
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- Publication type:
- Article
Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-84863-w
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- Publication type:
- Article
Spatially localized phosphorous metabolism of skeletal muscle in Duchenne muscular dystrophy patients: 24–month follow-up.
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- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182086
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- Publication type:
- Article
The ClC-1 chloride channel inhibitor NMD670 improves skeletal muscle function in rat models and patients with myasthenia gravis.
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- Science Translational Medicine, 2024, v. 16, n. 739, p. 1, doi. 10.1126/scitranslmed.adk9109
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- Publication type:
- Article
Severely impaired neuromuscular synaptic transmission causes muscle weakness in the Cacna1a-mutant mouse rolling Nagoya.
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- European Journal of Neuroscience, 2007, v. 25, n. 7, p. 2009, doi. 10.1111/j.1460-9568.2007.05438.x
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- Publication type:
- Article
A 12-year follow-up in sporadic inclusion body myositis: an end stage with major disabilities.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3167, doi. 10.1093/brain/awr217
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- Publication type:
- Article
AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands.
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- Journal of Neurology, 2009, v. 256, n. 10, p. 1719, doi. 10.1007/s00415-009-5190-7
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- Publication type:
- Article
Inclusion body myositis.
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- Journal of Neurology, 2005, v. 252, n. 12, p. 1448, doi. 10.1007/s00415-005-0884-y
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- Publication type:
- Article
Fibronectin is a serum biomarker for Duchenne muscular dystrophy.
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- Proteomics - Clinical Applications, 2014, v. 8, n. 3/4, p. 269, doi. 10.1002/prca.201300072
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- Publication type:
- Article
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
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- Clinical Genetics, 2011, v. 79, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01579.x
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- Publication type:
- Article
Occurrence of symptoms in different stages of Duchenne muscular dystrophy and their impact on social participation.
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- Muscle & Nerve, 2021, v. 64, n. 6, p. 701, doi. 10.1002/mus.27406
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- Publication type:
- Article
Synaptic dysfunction does not contribute to muscle weakness in inclusion-body myositis.
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- Muscle & Nerve, 2007, v. 35, n. 2, p. 266, doi. 10.1002/mus.20699
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- Publication type:
- Article
Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity.
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- Annals of Neurology, 2005, v. 58, n. 4, p. 649
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- Publication type:
- Article
An up-date on health-related quality of life in myasthenia gravis -results from population based cohorts.
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- Health & Quality of Life Outcomes, 2015, v. 13, n. 1, p. 1, doi. 10.1186/s12955-015-0298-1
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- Publication type:
- Article
Triggering of balance corrections and compensatory strategies in a patient with total leg proprioceptive loss.
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- Experimental Brain Research, 2002, v. 142, n. 1, p. 91, doi. 10.1007/s00221-001-0926-3
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- Article
Sensitivity of MG‐ADL for generalized weakness in myasthenia gravis.
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- European Journal of Neurology, 2019, v. 26, n. 6, p. 947, doi. 10.1111/ene.13867
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- Publication type:
- Article
Screening for tumours in paraneoplastic syndromes: report of an EFNS Task Force.
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- European Journal of Neurology, 2011, v. 18, n. 1, p. 19, doi. 10.1111/j.1468-1331.2010.03220.x
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- Publication type:
- Article
TREX1 mutations are not associated with sporadic inclusion body myositis.
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- European Journal of Neurology, 2010, v. 17, n. 8, p. 1108, doi. 10.1111/j.1468-1331.2010.02964.x
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- Publication type:
- Article
Management of paraneoplastic neurological syndromes: report of an EFNS Task Force.
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- European Journal of Neurology, 2006, v. 13, n. 7, p. 682, doi. 10.1111/j.1468-1331.2006.01266.x
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- Publication type:
- Article
Temporalis Muscle Hypertrophy and Reduced Skull Eccentricity in Duchenne Muscular Dystrophy.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 10, p. 1344, doi. 10.1177/0883073813518106
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- Publication type:
- Article