List of works - Bruno A Benitez

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

scientific article published on 09 August 2019

APOE genotype regulates pathology and disease progression in synucleinopathy

scientific article published on 01 February 2020

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

scientific article

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

scientific article

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

scientific article published in 2020

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

scientific article published on June 2013

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

scientific article

Coding variants in TREM2 increase risk for Alzheimer's disease

scientific article

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

scientific article published on 04 September 2020

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

scientific article published in 2011

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

scientific article published on August 2010

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

scientific article

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

scientific article published on 19 November 2020

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

scientific article

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

scientific article

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

scientific article published on 24 October 2013

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

scientific article

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

scientific article published on 08 July 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

scientific article published on 28 April 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

scientific article published on 01 July 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

scientific article published on 30 October 2012

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

scientific article published on 15 November 2017

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

scientific article published on 10 April 2018

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

scientific article published on January 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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 25 October 2008

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

scientific article published on 19 April 2016

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

scientific article published in 2020

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

scientific article published on 30 September 2016

TMEM230 in Parkinson's disease

scientific article published on 16 March 2017

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

scientific article published on 09 August 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

scientific article published on 08 May 2019

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

scientific article published on 10 April 2015

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

scientific article published on 5 February 2013

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

scientific article

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

scientific article

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

scientific article

List of works by Bruno A Benitez

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

APOE genotype regulates pathology and disease progression in synucleinopathy

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

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

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

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

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

Coding variants in TREM2 increase risk for Alzheimer's disease

Correction to: Overlapping genetic architecture between Parkinson disease and melanoma

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

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

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

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

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

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

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

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

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

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

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

Meningeal lymphatics affect microglia responses and anti-Aβ immunotherapy

Missense variant in TREML2 protects against Alzheimer's disease

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

Overlapping genetic architecture between Parkinson disease and melanoma

Parkinson disease is not associated with C9ORF72 repeat expansions

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

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

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

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

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

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

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

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

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

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

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

TMEM230 in Parkinson's disease

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

TREM2 and Neurodegenerative Disease

TREM2 and neurodegenerative disease

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

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

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

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

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

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

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

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

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