46 results on '"Madej-Pilarczyk, Agnieszka"'
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2. The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells
3. Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del
4. Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy
5. Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up
6. Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland
7. Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study
8. Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy
9. Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
10. Morphologic and Clinical Aspects of Danon Disease in a Patient with a Mutation c.137G > A in the LAMP-2 Gene
11. Clinical aspects of Emery-Dreifuss muscular dystrophy
12. Low-symptomatic skeletal muscle disease in patients with a cardiac disease – Diagnostic approach in skeletal muscle laminopathies
13. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of the genotype–phenotype correlation
14. Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy
15. X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
16. Clinical aspects of Emery-Dreifuss muscular dystrophy.
17. Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del
18. The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells
19. Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up
20. Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy
21. Low symptomatic malignant cardiac arrhythmia in a patient with lamin-related congenital muscular dystrophy
22. Advances in basic and clinical research in laminopathies
23. Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy
24. Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy
25. Cardiac involvement in laminopathies – short invited review
26. Cardiovascular risk markers in dilated cardiomyopathy in Emery–Dreifuss muscular dystrophy (EDMD)
27. Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells
28. Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?
29. Morphologic and Clinical Aspects of Danon Disease in a Patient with a Mutation c.137G > A in the LAMP-2 Gene
30. Might prepatterned acetylcholine-receptor clusters on surface myotubes be a sign of neuromuscular-junction maturation failure?
31. A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome
32. Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNAmutation p.Ser334del
33. Osteopontin – a fibrosis-related marker – in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy
34. Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family
35. Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients.
36. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435CLMNAmutation
37. Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation
38. X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
39. Estimation of subclinical cardiac dysfunction by plasma levels of type-B natriuretic peptides in patients with Emery-Dreifuss muscular dystrophy
40. Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study
41. Cardiac involvement in laminopathies – short invited review
42. X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.
43. [Nucleopathies in children].
44. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
45. [Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].
46. [Hutchinson-Gilford progeria in the light of contemporary genetics].
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