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1. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

3. Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

4. Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

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

6. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

7. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

9. Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

10. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

11. KBTBD13 is an actin-binding protein that modulates muscle kinetics

12. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation

13. A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

14. KBTBD13 is an actin-binding protein that modulates muscle kinetics

15. Human skeletal myopathy myosin mutations disrupt myosin head sequestration

16. Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

17. The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

19. Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

20. In vivo RyR1 reduction in muscle triggers a core-like myopathy

22. Pathogenic DPAGT1 variants in limb‐girdle congenital myasthenic syndrome (LG‐CMS) associated with tubular aggregates and ORAI1 hypoglycosylation.

24. Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

26. Human skeletal myopathy myosin mutations disrupt myosin head sequestration

28. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment

30. Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

31. LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD

33. Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

34. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

37. Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1‐related nemaline myopathy (NEM3)

40. Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

42. Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

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

47. Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion

49. Congenital Nemaline Myopathy with Dense Protein Masses

50. Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

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