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1. Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

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

3. Whole body vibration training for children and adolescents with congenital myopathy

4. WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase

5. TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy

6. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

7. Mutation-specific effects on thin filament length in thin filament myopathy

8. Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease

9. A 'limb-girdle muscular dystrophy' responsive to asthma therapy

10. Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

11. Endogenous Glucuronyltransferase Activity of LARGE or LARGE2 Required for Functional Modification of α-Dystroglycan in Cells and Tissues

12. Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

13. Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations inTPM2andTPM3Causing Congenital Myopathies

14. P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

15. Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

16. Muscle disorders: the latest investigations

17. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

18. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity

19. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations

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

21. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

22. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there

23. Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia

24. Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

26. Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

27. Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

28. De novoLMNAmutations cause a new form of congenital muscular dystrophy

29. Mutations inTPM3are a common cause of congenital fiber type disproportion

30. The pathogenesis ofACTA1-related congenital fiber type disproportion

31. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

32. Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres

33. Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene

34. Expanding the phenotype of GMPPB mutations

35. Reply : The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy

36. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

37. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

38. A novel X-linked form of congenital fiber-type disproportion

39. Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2: A cause of minute terminal chromosomal imbalances

40. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

42. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

43. Evidence for a dominant negative disease mechanism in cap myopathy due to TPM3

44. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy

45. Recent advances in nemaline myopathy

46. Approach to the diagnosis of congenital myopathies

47. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

48. Genotype-phenotype correlations in recessive RYR1-related myopathies

49. Congenital myopathies

50. A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

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