47 results on '"Vissing, John"'
Search Results
2. Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
3. Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey
4. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy
5. No effect of triheptanoin in patients with phosphofructokinase deficiency
6. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
7. Fatigue, physical activity and associated factors in 779 patients with myasthenia gravis
8. Acetaminophen treatment in children and adults with spinal muscular atrophy: a lower tolerance and higher risk of hepatotoxicity
9. Fatigue and associated factors in 172 patients with McArdle disease: an international web-based survey
10. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
11. 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands
12. Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1
13. 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021
14. Anti-gravity training improves walking capacity and postural balance in patients with muscular dystrophy
15. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy
16. 271st ENMC international workshop: Towards a unifying effort to fight Kennedy's disease. 20-22 October 2023, Hoofddorp, Netherlands
17. Lactate metabolism during exercise in patients with mitochondrial myopathy
18. 160th ENMC International Workshop (First ENMC practical care workshop) Exercise training in patients with muscle diseases: 20–22 June 2008, Naarden, The Netherlands
19. Mechanisms of exertional fatigue in muscle glycogenoses
20. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group
21. 162nd ENMC International Workshop: Disorders of muscle lipid metabolism in adults 28–30 November 2008, Bussum, The Netherlands
22. 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 – 30 January 2022
23. 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
24. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
25. Results of an open label feasibility study of sodium valproate in people with McArdle disease
26. Contractile properties are impaired in congenital myopathies
27. 265th ENMC International Workshop: Muscle imaging in Facioscapulohumeral Muscular Dystrophy (FSHD): relevance for clinical trials. 22–24 April 2022, Hoofddorp, The Netherlands
28. MYO-MRI diagnostic protocols in genetic myopathies
29. 264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th – 21st 2021
30. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
31. BAG3 myopathy is not always associated with cardiomyopathy
32. 229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017
33. 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands
34. 233rd ENMC International Workshop
35. Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA
36. 222nd ENMC International Workshop
37. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France
38. Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy
39. 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands
40. 1st International Workshop on Clinical trial readiness for sarcoglycanopathies 15–16 November 2016, Evry, France
41. Myositis in Griscelli syndrome type 2 treated with hematopoietic cell transplantation
42. A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy
43. 216th ENMC international workshop: Clinical readiness in FKRP related myopathies January 15–17, 2016 Naarden, The Netherlands
44. Muscle biopsies off-set normal cellular signaling in surrounding musculature
45. Response
46. Phenotype and clinical course in a family with a new de novo Twinkle gene mutation
47. A novel de novo mutation of the mitochondrial tRNAlys gene mt.8340G>A associated with pure myopathy.
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