47 results on '"Musumeci, O."'
Search Results
2. Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease
3. IMAGING
4. IMAGING: EP.332 Patients with McArdle disease have increased fat replacement of paraspinal muscles on MRI: a European multicenter study
5. POMPE DISEASE: EP.198 Large-scale validation of the Rasch-built Pompe activity scale (R-PAct) across twelve countries
6. A mobile app for patients with Pompe disease and its possible clinical applications
7. Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian family
8. The EUROMAC registry for rare glycogen storage diseases: preliminary report
9. Dilatative arterial malformations in patients with late onset Pompe disease (LOPD)
10. Report on nationwide Italian collaborative network for muscle glycogen storage disorders
11. Central nervous system involvement in late onset Pompe disease (LOPD): Clues from neuropsychological, morphological and functional MRI studies
12. Clinical and molecular features of a large cohort of Italian McArdle patients
13. Blood film examination for vacuolated and PAS-positive lymphocytes as diagnostic screening test for patients with late onset Pompe disease (LOPD)
14. Intracranial arterial abnormalities in patients with late onset Pompe disease
15. P.358 - Report on nationwide Italian collaborative network for muscle glycogen storage disorders
16. P.357 - The EUROMAC registry for rare glycogen storage diseases: preliminary report
17. P.260 - Pseudo-dominant inheritance of a novel homozygous HACD1 mutation associated with congenital myopathy: The first caucasian family
18. P.222 - Dilatative arterial malformations in patients with late onset Pompe disease (LOPD)
19. T.P.18
20. G.P.251
21. T.P.34
22. G.P.245
23. T.P.16
24. G.O.7
25. P.65 - Central nervous system involvement in late onset Pompe disease (LOPD): Clues from neuropsychological, morphological and functional MRI studies
26. P.17.10 New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD)
27. G.P.113 - Clinical and molecular features of a large cohort of Italian McArdle patients
28. G.P.13 - Intracranial arterial abnormalities in patients with late onset Pompe disease
29. G.P.5 - Blood film examination for vacuolated and PAS-positive lymphocytes as diagnostic screening test for patients with late onset Pompe disease (LOPD)
30. G.P.11.05 A life threatening case of α-enolase deficiency
31. G.P.3.12 Riboflavin-Responsive multiple Acyl-CoA dehydrogenation deficiency (MADD-RR): Clinical, biochemical, molecular genetic and 31 P-MRS studies
32. G.P.16.08. Two novel mutations associated with muscle phosphoglycerate mutase (PGAM) deficiency
33. G.P.12.01 Novel SHOX gene mutation in a short boy with Becker muscular dystrophy: A double trouble in two adjacent genes
34. G.P.3.09 MicroRNA expression in Duchenne and Becker muscular dystrophy
35. M.P.2.14 Muscle gene expression profile in adult onset acid maltase deficiency
36. G.P.10.11 Tubular aggregates: Do they help in diagnosing neuromuscular disorders?
37. G.P.251: The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measures
38. G.P.245: Exercise related muscle disorders: The EUROMAC Registry for McArdle disease and other rare glycogenolytic disorders
39. T.P.34: A family with epilepsy, movement disorders, mental retardation and exercise-induced myoglobinuria: A complex phenotype caused by two different rare disorders
40. T.P.18: Late-onset Pompe disease: Histopathological, biochemical and clinical assessment before and after ERT
41. T.P.16: Clinical and molecular characteristics of 33 patients with Late Onset Pompe Disease (LOPD): Unusual phenotypes, novel mutations and therapeutic responses
42. G.O.7: Multiple genetic variations in limb-girdle muscular dystrophies
43. Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
44. G.P.7 02 Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation
45. G.P.1 08 Phenotype–genotype correlation in two families with muscle phosphofructokinase deficiency
46. Amyloid myopathy presenting with rhabdomyolysis: Evidence of complement activation
47. P.17.10 New ETFDH mutations in a group of Italian patients with Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency (RR-MADD).
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