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1,963 results on '"NEMALINE myopathy"'

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1. A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study.

2. Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin‐deficient muscle.

3. Late‐onset primary muscle diseases mimicking sarcopenia.

4. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.

5. Mosaic EGFR exon 20 in-frame insertion pathogenic variants are associated with papular epidermal naevus with 'skyline' basal cell layer (PENS).

6. Case 29-2024: A 47-Year-Old Man with Confusion and Kidney Failure.

7. Leiomodin 2 neonatal dilated cardiomyopathy mutation results in altered actin gene signatures and cardiomyocyte dysfunction.

9. Novel mutation of SMPX-related scapuloperoneal myopathy and myofibrillar myopathy.

10. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

11. New evidence supports RYR3 as a candidate gene for developmental and epileptic encephalopathy.

12. Sil1-deficient fibroblasts generate an aberrant extracellular matrix leading to tendon disorganisation in Marinesco-Sjögren syndrome.

13. The fragile X proteins' enigma: to be or not to be nucleolar.

14. Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study.

15. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with coexisting nemaline myopathy: a case report

16. Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy.

17. Muscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission.

18. Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations.

19. Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.

20. Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.

21. Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS.

22. Cognitive, adaptive and perseverative aspects characterization of children with XLMTM: An explorative study.

23. Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases.

25. Characterization of disease-specific alterations in metabolites and effects of mesenchymal stromal cells on dystrophic muscles.

26. Phenotypic and genotyping spectrum of two Iranian cases with RBCK1‐associated polyglucosan body myopathy.

27. Filamin protects myofibrils from contractile damage through changes in its mechanosensory region.

28. Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.

29. Creatine and l-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.

30. Aging‐affiliated post‐translational modifications of skeletal muscle myosin affect biochemical properties, myofibril structure, muscle function, and proteostasis.

31. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.

32. Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?

33. Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle.

34. Congenital Myopathy-1B due to RYR 1 Gene Mutation in Three Libyan Families.

35. Effects of nicotinamide riboside in ovo feeding on high-yield broiler performance, meat quality, and myopathy incidence.

36. Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients.

37. The experience of clinical study and trial participation in rare diseases: A scoping review of centronuclear myopathy and other neuromuscular disorders.

38. The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

39. The Influence of a Genetic Variant in CCDC78 on LMNA -Associated Skeletal Muscle Disease.

40. Ayurvedic Management of Duchenne Muscular Dystrophy in Children: A Narrative Review.

41. A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.

42. Drug-Induced Myopathies: A Comprehensive Review and Update.

43. Nemaline myopathy with scoliosis: a case report

44. Myopathies associated with Streptococcus equi equi infection.

45. Effect of epicatechin consumption on the inflammatory pathway and mitochondria morphology in PBMC from a R350P desminopathy patient: A case report.

46. Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions.

47. Selected Talks Abstracts.

48. Keynote Lecturers.

49. Trilobatin contributes to the improvement of myopathy in a mouse model of Duchenne muscular dystrophy.

50. A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review.

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