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1. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

2. Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

3. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

5. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

7. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1

9. Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia

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

13. Biallelic variants in ARHGAP19 cause a motor-predominant neuropathy with asymmetry and conduction slowing

15. An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene.

17. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

18. 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

19. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

21. Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early‐onset distal myopathy

24. Recessive MYH7-related myopathy in two families

26. 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

27. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

28. Biallelic variants inHMGCS1are a novel cause of rare rigid spine syndrome

29. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

34. NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

35. Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

36. Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

39. Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

40. The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

41. Mutations in the Nebulin Gene Associated with Autosomal Recessive Nemaline Myopathy

43. Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy

44. A common flanking variant is associated with enhanced meiotic stability of theFGF14-SCA27B locus

45. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

46. CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

47. Skeletal Muscle Alpha-Actin Diseases

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

50. A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

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