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Lista de obras de Bruno A Benitez

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

artículo científico publicado en 2019

APOE genotype regulates pathology and disease progression in synucleinopathy

artículo científico publicado en 2020

Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia

artículo científico publicado en 2006

Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's Disease Patients

artículo científico publicado en 2015

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

artículo científico publicado en 2020

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

artículo científico publicado en 2013

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

artículo científico publicado en 2015

Coding variants in TREM2 increase risk for Alzheimer's disease

artículo científico publicado en 2014

Correction to: Overlapping genetic architecture between Parkinson disease and melanoma

scientific article published on 14 March 2020

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

artículo científico publicado en 2020

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

artículo científico publicado en 2011

Exploration of genetic susceptibility factors for Parkinson's disease in a South American sample.

artículo científico publicado en 2010

Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Functional reduction of SK3-mediated currents precedes AMPA-receptor-mediated excitotoxicity in dopaminergic neurons.

artículo científico publicado en 2010

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

artículo científico publicado en 2013

Genetic highthroughput screening in retinitis pigmentosa based on high resolution melting (HRM) analysis.

artículo científico publicado en 2013

Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

artículo científico publicado en 2014

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

artículo científico publicado en 2021

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

scientific article published on 23 September 2020

Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy

artículo científico publicado en 2021

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

artículo científico publicado en 2021

Overlapping genetic architecture between Parkinson disease and melanoma

scientific article published on 16 December 2019

Parkinson disease is not associated with C9ORF72 repeat expansions

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

artículo científico publicado en 2018

Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease

artículo científico publicado en 2016

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

artículo científico publicado en 2012

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

article

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

artículo científico publicado en 2017

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

artículo científico publicado en 2014

Regulation of ceramide-induced neuronal death: cell metabolism meets neurodegeneration.

artículo científico publicado en 2008

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

TMEM230 in Parkinson's disease

artículo científico publicado en 2017

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

artículo científico publicado en 2020

TREM2 and Neurodegenerative Disease

scientific article published on 01 October 2013

TREM2 and neurodegenerative disease

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

artículo científico publicado en 2019

TREM2 is associated with increased risk for Alzheimer's disease in African Americans

artículo científico publicado en 2015

TREM2 is associated with the risk of Alzheimer's disease in Spanish population

artículo científico publicado en 2013

TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2014

The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk

scientific article published on 01 August 2019

The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers

artículo científico publicado en 2013

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion

scientific article published on 27 August 2019

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

scientific article published on 20 June 2018

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression

artículo científico publicado en 2015