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236 results on '"Munell, Francina"'

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1. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

2. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

3. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

4. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain

5. Inferring disease course from differential exon usage in the wide titinopathy spectrum

8. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

10. A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy

13. Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

14. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

15. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

16. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

17. MRI in sarcoglycanopathies: a large international cohort study

19. Treatment of spinal muscular atrophy in European countries: A call to action

20. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

21. Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

22. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies:a large international cohort

23. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

24. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain

25. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

26. Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

28. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

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

33. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

34. 250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6–8 September 2019, Hoofdorp, the Netherlands

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

37. eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics

38. Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

39. Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up

42. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

43. eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

44. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

45. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

46. COVID-19 in children with neuromuscular disorders.

48. Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

50. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

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