Lista de obras - Sampath Arepalli - Dominio Público Uruguay

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

artículo científico publicado en 2014

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

artículo científico publicado en 2008

A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease

scholarly article by Madeleine Kristiansen et al published February 2019 in Movement Disorders

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

ABCA1 polymorphisms and Alzheimer's disease.

artículo científico publicado en 2007

APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis

artículo científico publicado en 2011

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

artículo científico publicado en 2010

Assessment of Parkinson's disease risk loci in Greece

scientific article published on 27 September 2013

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24

artículo científico publicado en 2014

Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study

artículo científico publicado en 2005

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Distinct DNA methylation changes highly correlated with chronological age in the human brain

artículo científico publicado en 2011

Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13?

artículo científico publicado en 2008

Exome sequencing reveals VCP mutations as a cause of familial ALS

artículo científico publicado en 2010

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

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

Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs

artículo científico publicado en 2009

Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease

artículo científico publicado en 2005

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

artículo científico publicado en 2018

Genome-wide assessment of Parkinson's disease in a Southern Spanish population

artículo científico publicado en 2016

Genome-wide association study confirms extant PD risk loci among the Dutch

artículo científico publicado en 2011

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

artículo científico publicado en 2011

Genome-wide association study reveals genetic risk underlying Parkinson's disease

artículo científico publicado en 2009

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

scientific journal article

IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations

artículo científico publicado en 2007

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

artículo científico publicado en 2012

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

artículo científico publicado en 2014

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

artículo científico publicado en 2012

Multiple loci are associated with white blood cell phenotypes

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

P4-070 Is APOE exclusively responsible for the AD linkage peak on chromosome 19?

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

artículo científico publicado en 2013

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

artículo científico publicado en 2011

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

artículo científico publicado en 2017

SNCA variants are associated with increased risk for multiple system atrophy

artículo científico publicado en 2009

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging

artículo científico publicado en 2017

Lista de obras de Sampath Arepalli

A 7.5-Mb duplication at chromosome 11q21-11q22.3 is associated with a novel spastic ataxia syndrome

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

A paradoxical relationship between family history, onset age, and genetic risk in Parkinson's disease

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

ABCA1 polymorphisms and Alzheimer's disease.

APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis

Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain

Assessment of Parkinson's disease risk loci in Greece

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24

Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study

Common genetic variants influence human subcortical brain structures

Distinct DNA methylation changes highly correlated with chronological age in the human brain

Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13?

Exome sequencing reveals VCP mutations as a cause of familial ALS

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

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

Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs

Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Genome-wide assessment of Parkinson's disease in a Southern Spanish population

Genome-wide association study confirms extant PD risk loci among the Dutch

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

Genome-wide association study reveals genetic risk underlying Parkinson's disease

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data

IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

Multiple loci are associated with white blood cell phenotypes

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

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

P4-070 Is APOE exclusively responsible for the AD linkage peak on chromosome 19?

Resolving the polymorphism-in-probe problem is critical for correct interpretation of expression QTL studies

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

SNCA variants are associated with increased risk for multiple system atrophy

Transcriptomic profiling of the human brain reveals that altered synaptic gene expression is associated with chronological aging