49 results on '"Voit, Thomas"'
Search Results
2. High urinary ferritin reflects myoglobin iron evacuation in DMD patients
3. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
4. GNE myopathy in Roma patients homozygous for the p.I618T founder mutation
5. Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy
6. Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation
7. Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy
8. Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial
9. Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis
10. In-depth analysis of the secretome identifies three major independent secretory pathways in differentiating human myoblasts
11. Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity
12. Gait analysis using accelerometry in dystrophin-deficient dogs
13. Caveolinopathy – New mutations and additional symptoms
14. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
15. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
16. Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers
17. Sleep disordered breathing in spinal muscular atrophy
18. Albumin targeting of damaged muscle fibres in the mdx mouse can be monitored by MRI
19. The congenital muscular dystrophies in 2004: a century of exciting progress
20. Co-localization of fukutin and α-dystroglycan in the mouse central nervous system
21. Daytime predictors of sleep disordered breathing in children and adolescents with neuromuscular disorders
22. Functional consequences of the autosomal dominant G272A mutation in the human GLUT1 gene
23. Hereditary motor and sensory neuropathy – Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries
24. Secondary reduction of α7B integrin in laminin α2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle
25. Challenges of clinical trial design for DMD
26. Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy
27. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
28. Hepatoblastoma in a 2-year-old child of a liver-transplanted mother
29. Report on the workshop: Meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30–31 January 2017
30. Differential integrin expression by T lymphocytes: Potential role in DMD muscle damage
31. Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study.
32. Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
33. Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease.
34. Welcome to the World Muscle Society Congress in Saint Malo
35. 90th ENMC International Workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9–10 February 2001, Naarden, The Netherlands
36. Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy.
37. HMSNL in a 13-year-old Bulgarian girl
38. Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene
39. Changes of laminin β2 chain expression in congenital muscular dystrophy
40. Repair of Rhodopsin mRNA by Spliceosome-Mediated RNA Trans-Splicing: A New Approach for Autosomal Dominant Retinitis Pigmentosa.
41. AAV Genome Loss From Dystrophic Mouse Muscles During AAV-U7 snRNA-mediated Exon-skipping Therapy.
42. Muscle Function Recovery in Golden Retriever Muscular Dystrophy After AAV1-U7 Exon Skipping.
43. de novo RYR1 heterozygous mutation (I4898T) causing lethal core–rod myopathy in twins
44. Clinical presentation, EEG studies, and novel mutations in two cases of GLUT1 deficiency syndrome in Japan
45. Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
46. Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
47. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents
48. Recent advances in the classification of congenital muscular dystrophies
49. Duplication of dystrophin exon 18 in a DMD patient with mental retardation
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