25 results on '"van Engelen, Baziel G. M."'
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2. The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins
3. Long-term follow-up of respiratory function in facioscapulohumeral muscular dystrophy
4. Facioscapulohumeral dystrophy transcriptome signatures correlate with different stages of disease and are marked by different MRI biomarkers
5. 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
6. The socioeconomic burden of facioscapulohumeral muscular dystrophy
7. 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
8. Health-Related Quality of Life in Patients with Adult-Onset Myotonic Dystrophy Type 1: A Systematic Review
9. Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools
10. Quantitative muscle MRI and ultrasound for facioscapulohumeral muscular dystrophy: complementary imaging biomarkers
11. Monitoring creatine and phosphocreatine by 13C MR spectroscopic imaging during and after 13C4 creatine loading: a feasibility study
12. Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol
13. Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken
14. Effect of Suboptimal Sampling and Handling Conditions on Urinary Metabolic Profiles
15. How Persons with a Neuromuscular Disease Perceive Employment Participation: A Qualitative Study
16. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
17. Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2
18. High disease impact of myotonic dystrophy type 2 on physical and mental functioning
19. Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype
20. TDP-43 accumulation is common in myopathies with rimmed vacuoles
21. Different types of fatigue in patients with facioscapulohumeral dystrophy, myotonic dystrophy and HMSN-I. Experienced fatigue and physiological fatigue
22. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia
23. Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint
24. Serum creatine kinase as predictor of clinical course in rhabdomyolysis: a 5-year intensive care survey
25. A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia
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