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293 results on '"Maarel, S.M. van der"'

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1. Facioscapulohumeral muscular dystrophy: the road to targeted therapies.

2. A proteomics study identifying interactors of the FSHD2 gene product SMCHD1 reveals RUVBL1-dependent DUX4 repression

3. Enrichment of serum IgG4 in MuSK myasthenia gravis patients

4. High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

5. Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene

6. SATB1, genomic instability and Gleason grading constitute a novel risk score for prostate cancer

7. Elevated plasma complement components in facioscapulohumeral dystrophy

8. The prospects of targeting DUX4 in facioscapulohumeral muscular dystrophy

9. Evaluation of blood gene expression levels in facioscapulohumeral muscular dystrophy patients

10. Consequences of epigenetic derepression in facioscapulohumeral muscular dystrophy

11. Expanding the mutation spectrum in ICF syndrome: Evidence for a gender bias in ICF2

12. Single-cell RNA sequencing in facioscapulohumeral muscular dystrophy disease etiology and development

13. SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

14. Early onset as a marker for disease severity in facioscapulohumeral muscular dystrophy

17. Deep characterization of a common D4Z4 variant identifies biallelic DUX4 expression as a modifier for disease penetrance in FSHD2

18. Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2

19. A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

20. FSHD type 2 and Bosma arhinia microphthalmia syndrome Two faces of the same mutation

21. Adding quantitative muscle MRI to the FSHD clinical trial toolbox

22. Respiratory function in facioscapulohumeral muscular dystrophy 1

24. Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

25. Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy

26. Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

27. Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

28. Generation of Isogenic D4Z4 Contracted and Noncontracted Immortal Muscle Cell Clones from a Mosaic Patient A Cellular Model for FSHD

29. Mutations in Z8T824 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

30. Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

32. Population-based incidence and prevalence of facioscapulohumeral dystrophy

33. A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging

34. Intrinsic epigenetic regulation of the D4Z4 macrosatellite repeat in a transgenic mouse model for FSHD

35. Determining the role of sarcomeric proteins in facioscapulohumeral muscular dystrophy: a study protocol

36. Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

37. Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

38. Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy

39. Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD.

41. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

42. Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice.

43. Accelerated skeletal muscle ageing is a molecular signature in OPMD.

44. A unifying genetic model for facioscapulohumeral muscular dystrophy.

45. [Facioscapulohumeral muscular dystrophy].

46. Clinical features of facioscapulohumeral muscular dystrophy 2.

47. Contraction-dependent (FSHD1) and independent (FSHD2) epigenetic changes of D4Z4 unify FSHD.

48. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD.

49. Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?

50. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).

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