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105 results on '"Bruno A. Benitez"'

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1. Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers

2. Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration

3. Functional genomic analyses uncover APOE-mediated regulation of brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease

4. A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

5. TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers

6. Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases

7. Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels

8. Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis

9. Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease

10. Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer's disease.

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

13. Cross-omics integration shows cortex-wide synaptic dysfunction at later stages of Alzheimer disease

16. Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders

17. Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy

18. Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer’s disease

19. Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains

20. Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes

21. TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis

22. Phospholipase D3 contributes to Alzheimer’s disease risk via disruption of Aβ clearance and microglia response to amyloid plaques

23. A landscape of the genetic and cellular heterogeneity in Alzheimer disease

26. Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration

27. Proteinopathy and Longitudinal Cognitive Decline in Parkinson Disease

28. Neuronal VCP loss of function recapitulates FTLD-TDP pathology

29. Overexpressing low-density lipoprotein receptor reduces tau-associated neurodegeneration in relation to apoE-linked mechanisms

30. Single‐nuclei RNA‐seq of brains carriers of high‐risk variants and Mendelian mutations

31. Ascertaining perturbations in microglial expression profiles using single‐nuclei RNA‐seq from human brains

32. A comprehensive analysis of dementia cerebrospinal fluid biomarkers using GWAs, polygenic risk scores and Mendelian randomization in Parkinson’s disease

33. Prediction of Alzheimer’s disease using plasma RNA sequences

34. Late‐onset Alzheimer's disease‐associated gene, CPAMD8 , increases B‐CTF and affects APP processing through regulation of the autophagy‐lysosome pathway

35. Proteogenomic analysis of cerebrospinal fluid reveals causal role of proteins from the autophagy‐lysosome pathway in Parkinson’s disease

36. Alzheimer‐associated circular RNA circHOMER1 regulates synaptic gene expression and cognition

37. Multiomics approaches reveal a link between the MS4A gene loci, TREM2, and microglia function

38. Exome Sequencing Revealed PDE11A as a Novel Candidate Gene for Early-Onset Alzheimer's disease

39. Groupe de pieux thermoactifs dans un écoulement aquifère : modélisation physique et numérique

40. Macrophage secretion of miR-106b-5p causes renin-dependent hypertension

41. Nutrição parenteral: panorama das amostras analisadas no Instituto Nacional de Controle de Qualidade em Saúde

42. Genome-wide association, Mendelian Randomization and polygenic risk score studies converge on a role of β−amyloid and APOE locus in Parkinson disease

43. Quantitative endophenotypes as an alternative approach to understanding genetic risk in neurodegenerative diseases

44. Genomic and multi-tissue proteomic integration for understanding the biology of disease and other complex traits

45. Two Novel Pde11a Genetic Variants Increase Tau Phosphorylations in Early-onset Alzheimer's Disease

46. Cell-autonomous expression of the acid hydrolase galactocerebrosidase

47. Interactions between energy geostructures in the same aquifer

48. Triggering receptor expressed on myeloid cells 2 (TREM2): a potential therapeutic target for Alzheimer disease?

49. Study of genetic variants in the BDNF, COMT, DAT1 and SERT genes in Colombian children with attention deficit disorder

50. Estudio de variantes de los genes BDNF, COMT, DAT1 y SERT en niños colombianos con déficit de atención

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