24 results on '"Rasmussen, M"'
Search Results
2. EP.98Next-generation sequencing-based molecular diagnosis of neuromuscular patients: results of three years experience
3. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA
4. MYOFIBRILLAR AND DISTAL MYOPATHIES
5. A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy
6. A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems
7. CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
8. The evaluation of bone age in patients with Duchenne muscular dystrophy on long-term glucocorticoid treatment
9. Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy
10. G.P.236
11. G.P.277
12. P.22 - A boy with dystrophinopathy, episodic rhabdomyolysis and severe, cyclic emotional and behavioural problems
13. P.12.11 Atypical paramyotonia congenita in a boy with a new mutation in the SCN4A gene
14. P2.19 Norwegian patients with Limb Girdle Muscular Dystrophy 2I structural changes and immunhistochemistry related to clinical findings and genotype–fenotype
15. G.P.300 - Recessive loss-of-function SCN4A mutations associated with a novel phenotype of congenital myopathy
16. G.P.160 - CAPN3 mutation c. 643-663del21 identified in 52 Norwegian patients belonging to 24 families is associated with dominant calpainopathy
17. G.P.35 - The evaluation of bone age in patients with Duchenne muscular dystrophy on long-term glucocorticoid treatment
18. EM.P.2.09 Spectrum of mutations and phenotypic variability in FKRP-related disease in Norway
19. P.P.4 08 Pediatric patients homozygous for the c.826C > A missense mutation in the FKRP gene: Experience from a Norwegian pediatric service
20. G.P.277: LGMD2I: Is there a relationship between clinical phenotype, morphological alterations and level of alpha-dystroglycan glycosylation in patients with the same FKRP genotype?
21. G.P.236: Two siblings with SMARD1, one of them being in “double trouble”
22. G.P.8 06 Very early onset myopathy with structural changes in the diaphragm at autopsy consistent with myofibrillar myopathy
23. P.P.4 08 Pediatric patients homozygous for the c.826C>A missense mutation in the FKRP gene: Experience from a Norwegian pediatric service
24. P.P.4 09 Spectrum of mutations and prevalence of FKRP associated disease in Norway
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