112 results on '"Fernández-Torrón, R."'
Search Results
2. Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
3. Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort
4. 20733. HISTORIA NATURAL DE PACIENTES CON ATROFIA MUSCULAR ESPINAL CON 3 Y 4 COPIAS DEL GEN SMN2. DATOS DEL REGISTRO NACIONAL ESPAÑOL (CUIDAME)
5. 21181. RESONANCIA MUSCULAR COMO HERRAMIENTA DIAGNÓSTICA EN LA ENFERMEDAD DE EMERY-DREIFUSS: A RAÍZ DE UN CASO
6. Trastornos de la motilidad
7. Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
8. Phenotypic correlations in a large single‐center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
9. Activation of the brainstem but not of the hypothalamus in hemicrania continua without autonomic symptoms
10. P.184Clinical outcome study for dysferlinopathy: a longitudinal examination of the upper limb involvement using physiotherapy outcome measures and T1w MRI
11. P.185The clinical outcome study for dysferlinopathy: quantitative MRI and physiotherapy outcomes to capture disease progression
12. Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures
13. IMAGING: EP.333 Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis
14. Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures
15. MUSCLE IMAGING – MRI: P.159 Correlations between quantitative NMRI biomarkers for disease progression and disease activity in muscle of patients with dysferlinopathy
16. Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort
17. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation
18. Identification and characterisation of ATP2A1 variants through whole exome sequencing
19. Functional neuroimaging in the diagnosis of patients with parkinsonism: Update and recommendations for clinical use
20. Neuroimagen funcional en el diagnóstico de pacientes con síndrome parkinsoniano: actualización y recomendaciones para el uso clínico
21. P.395Spanish Pompe registry: baseline characteristics of first 49 patients with adult onset of Pompe disease
22. P.306Multicentric MRI study in a cohort of FSHD2 patients: pattern definition and differences between FSHD1 and FSHD2
23. P.179European collaboration on clinical and genetic heterogeneity of sarcoglycanopathies
24. LIMB-GIRDLE MUSCULAR DYSTROPHY I: P.12Clinical outcome study in dysferlinopathy: medical comorbidities and polytherapy in a large population of dysferlinopathy patients
25. LIMB-GIRDLE MUSCULAR DYSTROPHY I: P.11Clinical outcome study in dysferlinopathy: random forest approach to assess the relationship between baseline muscle MRI and longitudinal functional outcome measures
26. D04 - Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures
27. D02 - Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy
28. Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort
29. Indicaciones de la resonancia magnética nuclear, de la tomografía axial computarizada y de la PET o SPECT en pacientes con trastornos del movimiento
30. The clinical outcome study of dysferlinopathy: Muscle MRI pattern at baseline and longitudinal changes over one year
31. P.495 - Epidemiological population-based study of hereditary myopathies in a southern European region
32. P.443 - Identification and characterisation of ATP2A1 variants through whole exome sequencing
33. P.351 - Quality of life in patients with facioscapulohumeral dystrophy type 1
34. P.163 - Examining the relationship between Dixon quantitative MRI and physiotherapy functional outcome measures in dysferlinopathy
35. P.160 - Is cardiac dysfunction a feature of dysferlinopathy? Data from the clinical outcome study of dysferlinopathy
36. P.84 - Magnetic resonance image in oculopharyngeal muscular dystrophy
37. OD22 - Muscle magnetic resonance imaging in VCP-related multi-system proteinopathy (IBMPFD): is the clue in the “fat pockets”?
38. D29 - Semi-quantitative muscle MRI in dysferlinopathy patients: pattern recognition and implications for clinical trials
39. D16 - Quantitative magnetic resonance imaging of the skeletal muscle in a multi-center dysferlinopathy study: 1-year follow-up
40. D12 - Clinical outcome study for dysferlinopathy: Sensitivity of outcome measures over one-year
41. S10 - Myotonic dystrophy trial readiness
42. G.P.143
43. P.7 - Clinical outcome study for dysferlinopathy: One-year follow-up
44. MRI muscle fat quantification in ambulant patients with limb girdle muscular dystrophy 2A and correlation with clinical severity
45. Torpeza en el miembro superior derecho en un varón de mediana edad
46. G.P.143: Muscle MRI and CT help to differentiate between mutations in emerin and lamin A/C gene in patients with Emery–Dreifuss clinical phenotypes
47. [Chronic migraine and abuse of analgesics]
48. Dried Blood Spot for Screening for Late-Onset Pompe Disease: A Spanish Cohort
49. [Prolonged hemiplegia as the only symptom of a simple focal nonconvulsive status epilepticus]
50. Longitudinal upper limb muscle MRI in dysferlinopathy: examining the relationship between semi quantitative MRI and physiotherapy outcome measures
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