250 results on '"Paradas C."'
Search Results
2. P379 Spanish Pompe registry: new data based on the 130 patients included
3. O02 Unpacking gene expression profile to the single nuclei level in human muscle Pompe samples
4. Report by the Spanish Foundation for the Brain on the social impact of amyotrophic lateral sclerosis and other neuromuscular disorders
5. Informe de la Fundación Del Cerebro sobre el impacto social de la esclerosis lateral amiotrófica y las enfermedades neuromusculares
6. Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
7. Protocolo diagnóstico de la mononeuritis y multineuritis
8. P.85 Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry
9. P.86 Spanish Pompe Registry: Update of the 122 patients included
10. FP.35 Myostatin concentration is unreliable as a biomarker of disease progression in dysferlinopathy
11. Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy: A Rasch Analysis Approach
12. Analysis of Juvenile Onset Pompe Disease patients included in the Spanish Pompe Registry
13. LGMD
14. IMAGING
15. Clinical characteristics and outcomes of thymoma associated myasthenia gravis
16. Genotype-phenotype correlations in valosin containing protein disease: an international multicentric audit, the VCP International Study Group
17. Highly skewed inactivation of the wild-type X-chromosome in asymptomatic female carriers of spinal and bulbar muscular atrophy (Kennedy’s disease)
18. CMT caused by MORC2 mutations in Spain
19. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
20. Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
21. FROM THE SPINAL CORD TO THE MUSCLE
22. MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES
23. Assessment of disease progression in dysferlinopathy: a 1-year cohort study
24. Identification of serum microRNAs as potential biomarkers in Pompe disease
25. Growth differentiation factor 15 is a valuable biomarker of therapeutic response for TK2 deficient myopathy
26. O.2Growth differentiation factor 15 is a valuable biomarker of therapeutic response for TK2 deficient myopathy
27. P.60A retrospective study of the combination of pyrimidine nucleos(t)ides in patients with thymidine kinase 2 (TK2) deficiency
28. P.183Functional progression in dysferlinopathy: results of a 3-year natural history study
29. P.177Measuring what matters in dysferlinopathy – linking functional ability to patient reported outcome measures
30. P.171A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study
31. Clinical Outcome Study for Dysferlinopathy: Three years of natural history data for clinical trial readiness
32. Clinical Outcome Study in Dysferlinopathy: Medical comorbidities and polytherapy in a large population of dysferlinopathy patients
33. IMAGING: EP.333 Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
34. POMPE DISEASE: EP.199 Spanish Pompe registry: analysis of the first 100 patients included
35. LGMD: EP.182 Quality of life in dysferlinopathy can be good despite poor function
36. CLINICAL RESEARCH: O.8 Genotype-phenotype correlations in valosin containing protein disease: an international multicentric audit, the VCP International Study Group
37. Acute paraparesis following intravenous steroid therapy in a case of dural spinal arteriovenous fistula
38. LIMB-GIRDLE MUSCULAR DYSTROPHY I
39. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
40. LIMB-GIRDLE MUSCULAR DYSTROPHY I
41. A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain
42. MITOCHONDRIAL DISEASES II (Oral)
43. LIMB-GIRDLE MUSCULAR DYSTROPHY I
44. Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy
45. Clinical Outcome Study of Dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?
46. Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy
47. The phenotype of POGLUT1 mutations: Broad clinical expression and distinctive muscle imaging pattern
48. The clinical outcome study of dysferlinopathy: Muscle MRI pattern at baseline and longitudinal changes over one year
49. BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain
50. Clinical outcome study of dysferlinopathy: what are the best outcome measures for dysferlinopathy patients?
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