Lista de obras - Alan Renton - Dominio Público Uruguay

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

artículo científico publicado en 2017

A genome-wide association study of myasthenia gravis

artículo científico publicado en 2015

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

artículo científico publicado en 2011

A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease

artículo científico publicado en 2020

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

artículo científico publicado en 2012

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

artículo científico publicado en 2015

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

artículo científico publicado en 2017

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

artículo científico publicado en 2012

CRESTing the ALS mountain

artículo científico publicado en 2013

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

artículo científico publicado en 2012

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

Differential DJ-1 gene expression in Parkinson's disease

artículo científico publicado en 2009

Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

artículo científico publicado en 2017

Exploring the epigenetics of Alzheimer disease

artículo científico publicado en 2015

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

artículo científico publicado en 2012

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

artículo científico publicado en 2012

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

scientific article published on 01 August 2018

Genetic architecture of ALS in Sardinia

artículo científico publicado en 2014

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

artículo científico publicado en 2009

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

artículo científico publicado en 2021

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

artículo científico publicado en 2014

Hypoxia induces p53 through a pathway distinct from most DNA-damaging and stress-inducing agents.

artículo científico publicado en 2003

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

artículo científico publicado en 2011

Melatonin receptor type 1A gene linked to Alzheimer's disease in old age

artículo científico publicado en 2018

Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response

artículo científico publicado en 2008

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2014

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

artículo científico publicado en 2015

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

artículo científico publicado en 2014

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

artículo científico publicado en 2016

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

artículo científico publicado en 2010

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

artículo científico publicado en 2014

State of play in amyotrophic lateral sclerosis genetics

artículo científico publicado en 2014

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

artículo científico publicado en 2016

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

artículo científico publicado en 2012

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

artículo científico publicado en 2017

The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer's disease

scientific article published on 02 September 2020

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Lista de obras de Alan Renton

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

A genome-wide association study of myasthenia gravis

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

A quantitative trait rare variant nonparametric linkage method with application to age-at-onset of Alzheimer's disease

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

ATXN2 is a modifier of phenotype in ALS patients of Sardinian ancestry

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population

CRESTing the ALS mountain

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Differential DJ-1 gene expression in Parkinson's disease

Erratum: The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

Exploring the epigenetics of Alzheimer disease

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

Functional annotation of genomic variants in studies of late-onset Alzheimer's disease

Genetic architecture of ALS in Sardinia

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

Hypoxia induces p53 through a pathway distinct from most DNA-damaging and stress-inducing agents.

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

Melatonin receptor type 1A gene linked to Alzheimer's disease in old age

Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

PINK1 cleavage at position A103 by the mitochondrial protease PARL.

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

State of play in amyotrophic lateral sclerosis genetics

TBK1 is associated with ALS and ALS-FTD in Sardinian patients

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data

The innate immunity protein IFITM3 modulates γ-secretase in Alzheimer's disease

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation