Search

Your search keyword '"Fernández-Torrón, Roberto"' showing total 36 results

Search Constraints

Start Over You searched for: Author "Fernández-Torrón, Roberto" Remove constraint Author: "Fernández-Torrón, Roberto" Database Unpaywall Remove constraint Database: Unpaywall
36 results on '"Fernández-Torrón, Roberto"'

Search Results

1. Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis

2. Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis

3. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late‐onset cerebellar ataxia

4. Senescence plays a role in myotonic dystrophy type 1

5. Delay of EGF-Stimulated EGFR Degradation in Myotonic Dystrophy Type 1 (DM1)

6. Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis

7. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

8. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

10. A comprehensive serum lipidome profiling of amyotrophic lateral sclerosis

11. Clinical and therapeutic features of myasthenia gravis in adults based on age at onset

13. Spanish Pompe registry: Baseline characteristics of first 49 patients with adult onset of Pompe disease

14. Registro español de la enfermedad de Pompe: análisis de los primeros 49 pacientes con enfermedad de Pompe del adulto

15. Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study

16. MYO-MRI diagnostic protocols in genetic myopathies

17. Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT

18. Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

19. Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert

20. Late-onset thymidine kinase 2 deficiency: a review of 18 cases

21. Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy

23. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

24. Limb girdle muscular dystrophy due to mutations in POMT2

25. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

26. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

27. Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

29. Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

Catalog

Books, media, physical & digital resources