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72 results on '"Dlouhy, S R"'

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1. Long-term disease-free survival after nonmyeloablative cyclophosphamide/fludarabine conditioning and related/unrelated allotransplantation for acute myeloid leukemia/myelodysplasia.

2. Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.

3. Insomnia associated with thalamic involvement in E200K Creutzfeldt-Jakob disease.

4. A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.

5. Prion proteins with different conformations accumulate in Gerstmann-Sträussler-Scheinker disease caused by A117V and F198S mutations.

6. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome.

7. A cell cycle alteration precedes apoptosis of granule cell precursors in the weaver mouse cerebellum.

8. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2).

9. Hypothalamic-pituitary-gonadal axis in the mutant weaver mouse.

10. Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.

12. Characterization of murine Girk2 transcript isoforms: structure and differential expression.

13. An antibody raised against a conserved sequence of the prion protein recognizes pathological isoforms in human and animal prion diseases, including Creutzfeldt-Jakob disease and bovine spongiform encephalopathy.

14. X-linked spastic paraplegia due to a mutation (C506T; Ser169Phe) in exon 4 of the proteolipid protein gene (PLP).

15. Diverse cell death pathways result from a single missense mutation in weaver mouse.

16. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria.

17. Multiplex PCR: critical parameters and step-by-step protocol.

18. Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene.

19. In situ hybridization analysis of Girk2 expression in the developing central nervous system in normal and weaver mice.

20. Proteolipid protein is necessary in peripheral as well as central myelin.

21. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease.

22. Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S).

23. Gerstmann-Sträussler-Scheinker disease with the PRNP P102L mutation and valine at codon 129.

25. Proteinase-K-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease (Indiana kindred).

26. Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease.

27. Phenotypic effects of the weaver gene are evident in the embryonic cerebellum but not in the ventral midbrain.

28. Direct cDNA selection with DNA microdissected from mouse chromosome 16: isolation of novel clones and construction of a partial transcription map of the C3-C4 region.

29. The weaver mutation changes the ion selectivity of the affected inwardly rectifying potassium channel GIRK2.

30. The proteolipid protein gene: double, double, ... and trouble.

32. Linkage mapping of microdissected clones from distal mouse chromosome 16.

33. Prion protein amyloidosis.

34. Vascular variant of prion protein cerebral amyloidosis with tau-positive neurofibrillary tangles: the phenotype of the stop codon 145 mutation in PRNP.

35. Gerstmann-Sträussler-Scheinker disease (PRNP P102L): amyloid deposits are best recognized by antibodies directed to epitopes in PrP region 90-165.

36. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus.

37. Dopaminergic parameters in the striatum and substantia nigra of seven strains of mice: higher density in striatum of CAST compared to BALB mice.

38. Pelizaeus-Merzbacher disease in a family of Portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene.

39. Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.

40. In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

41. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease.

42. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene.

43. Gerstmann-Sträussler-Scheinker disease and the Indiana kindred.

44. Amyloid fibrils in Gerstmann-Sträussler-Scheinker disease (Indiana and Swedish kindreds) express only PrP peptides encoded by the mutant allele.

45. cDNA approaches to isolation of the mouse mutant weaver gene.

46. Analysis of region-specific library constructed by sequence-independent amplification of microdissected fragments surrounding weaver (wv) gene on mouse chromosome 16.

47. Novel cDNA clones obtained by antibody screening of a mouse cerebellar cDNA expression library.

48. Molecular characterization of a novel cDNA from murine cerebellum, developmental expression, and distribution in brain.

49. Familial Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.

50. Cellular distribution of the RNA transcripts of a newly discovered gene in the brain of normal, weaver, Purkinje cell degeneration and reeler mutant mice as evidenced by in situ hybridization histochemistry.

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