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Your search keyword '"James, Uphill"' showing total 42 results

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42 results on '"James, Uphill"'

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1. Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7

2. New insights into the genetic etiology of Alzheimer's disease and related dementias

3. Identifying the best PCR enzyme for library amplification in NGS

4. SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration

5. Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes

6. Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis

7. Genome-wide association study identifies risk variants for sporadic Creutzfeldt-Jakob disease in STX6 and GAL3ST1

8. HECTD2 is associated with susceptibility to mouse and human prion disease.

9. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

10. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

11. Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP

12. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

13. Validation of next-generation sequencing technologies in genetic diagnosis of dementia

14. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit

15. The heritability and genetics of frontotemporal lobar degeneration

16. Seven-year discordance in age at onset in monozygotic twins with inherited prion disease (P102L)

17. Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study

18. Genetic susceptibility, evolution and the kuru epidemic

19. F2‐03‐04: Genetic risk factors for posterior cortical atrophy

20. Inherited mtDNA variations are not strong risk factors in human prion disease

21. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

22. Identification of genetic loci affecting mouse-adapted bovine spongiform encephalopathy incubation time in mice

23. A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes

24. Frontotemporal dementia and its subtypes: A genome-wide association study

25. P1–182: Validation of next‐generation sequencing technologies to radically change dementia genetic diagnosis

26. O3–01–06: TREM2 variants and young‐onset Alzheimer's disease: A study of clinical phenotype

27. RARE STRUCTURAL GENETIC VARIATION IN HUMAN PRION DISEASES

28. P4‐107: Genetic risk factors for posterior cortical atrophy may be distinct from late‐onset Alzheimer's disease

29. Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

30. Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors

31. A novel protective prion protein variant that colocalizes with kuru exposure

32. Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series

33. HECTD2 is associated with susceptibility to mouse and human prion disease

34. Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease

35. P2‐211: Genome‐wide association study identifies genetic risk factors for variant Creutzfeldt‐Jakob disease

36. Successful amplification of degraded DNA for use with high-throughput SNP genotyping platforms

37. Rare structural genetic variation in human prion diseases

38. Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics

39. R47H TREM2 variant increases risk of typical early‐onset Alzheimer's disease but not of prion or frontotemporal dementia

40. Apolipoprotein E Genotype Modifies the Phenotype of Alzheimer Disease

41. Genetic susceptibility, evolution and the kuru epidemic.

42. Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

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