Lista de obras - Michael G Heckman - Dominio Público Uruguay

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology

scientific article published on 24 August 2018

ATP13A2 variability in Parkinson disease.

scientific article published on March 2009

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

artículo científico publicado en 2017

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

artículo científico publicado en 2018

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

artículo científico publicado en 2012

Analysis of COQ2 gene in multiple system atrophy

artículo científico publicado en 2014

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

artículo científico publicado en 2012

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

artículo científico publicado en 2013

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

artículo científico publicado en 2011

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology

artículo científico publicado en 2019

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

artículo científico publicado en 2015

Association of Total Fluid Intake and Output with Duration of Hospital Stay in Patients with Acute Pancreatitis.

artículo científico publicado en 2018

Association study between multiple system atrophy and TREM2 p.R47H

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

artículo científico publicado en 2014

Brain injury after cardiopulmonary arrest and its assessment with diffusion-weighted magnetic resonance imaging

artículo científico publicado en 2007

Cancer in Parkinson's disease

artículo científico publicado en 2016

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center

artículo científico publicado en 2018

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

artículo científico publicado en 2008

ELAVL4, PARK10, and the Celts

article

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

artículo científico publicado en 2016

Evaluation of the role of SNCA variants in survival without neurological disease

artículo científico publicado en 2012

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus

artículo científico publicado en 2015

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

scientific article published on 08 October 2019

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression

artículo científico publicado en 2009

Fine-mapping and candidate gene investigation within the PARK10 locus

artículo científico publicado en 2008

GCH1 expression in human cerebellum from healthy individuals is not gender dependent

scientific article published on 30 June 2009

GCH1 in early-onset Parkinson's disease.

artículo científico publicado en 2009

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

artículo científico publicado en 2013

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

artículo científico publicado en 2014

Genetic variation of Omi/HtrA2 and Parkinson's disease

artículo científico publicado en 2008

Genomewide association, Parkinson disease, and PARK10

artículo científico publicado en 2006

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

artículo científico publicado en 2016

Human leukocyte antigen variation and Parkinson's disease

artículo científico publicado en 2011

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

artículo científico publicado en 2017

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

artículo científico publicado en 2010

LRRK2 exonic variants and risk of multiple system atrophy

artículo científico publicado en 2014

LRRK2 variation and dementia with Lewy bodies

artículo científico publicado en 2016

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

artículo científico publicado en 2007

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

artículo científico publicado en 2012

Loss of ability to work and ability to live independently in Parkinson's disease

artículo científico publicado en 2011

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies

artículo científico publicado en 2016

MAPT haplotype diversity in multiple system atrophy

artículo científico publicado en 2016

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

artículo científico publicado en 2020

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

artículo científico publicado en 2012

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

artículo científico publicado en 2015

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

artículo científico publicado en 2010

Multiple system atrophy and apolipoprotein E.

artículo científico publicado en 2018

NOTCH3 variants and risk of ischemic stroke

artículo científico publicado en 2013

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

artículo científico publicado en 2015

Occurrence of Crohn's disease with Parkinson's disease.

artículo científico publicado en 2017

Phactr2 and Parkinson's disease

artículo científico publicado en 2009

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

artículo científico publicado en 2013

Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension

scientific article published on 04 September 2019

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

artículo científico publicado en 2013

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

scholarly article by Monica Y Sanchez-Contreras published in July 2018

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

artículo científico publicado en 2017

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

artículo científico publicado en 2015

Segmentation of the Globus Pallidus Internus Using Probabilistic Diffusion Tractography for Deep Brain Stimulation Targeting in Parkinson Disease.

artículo científico publicado en 2018

Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples

artículo científico publicado en 2020

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

scientific article published on 03 January 2014

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

artículo científico publicado en 2016

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

artículo científico publicado en 2020

Lista de obras de Michael G Heckman

A comprehensive screening of copy number variability in dementia with Lewy bodies

APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology

ATP13A2 variability in Parkinson disease.

Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers

Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease

An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology

Analysis of COQ2 gene in multiple system atrophy

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology

Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms

Association of Total Fluid Intake and Output with Duration of Hospital Stay in Patients with Acute Pancreatitis.

Association study between multiple system atrophy and TREM2 p.R47H

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

Brain injury after cardiopulmonary arrest and its assessment with diffusion-weighted magnetic resonance imaging

Cancer in Parkinson's disease

Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center

Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease

ELAVL4, PARK10, and the Celts

Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study

Evaluation of the role of SNCA variants in survival without neurological disease

Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus

Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression

Fine-mapping and candidate gene investigation within the PARK10 locus

GCH1 expression in human cerebellum from healthy individuals is not gender dependent

GCH1 in early-onset Parkinson's disease.

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

Genetic variation of Omi/HtrA2 and Parkinson's disease

Genomewide association, Parkinson disease, and PARK10

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

Human leukocyte antigen variation and Parkinson's disease

In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers

LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease

LRRK2 exonic variants and risk of multiple system atrophy

LRRK2 variation and dementia with Lewy bodies

Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

Loss of ability to work and ability to live independently in Parkinson's disease

MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies

MAPT haplotype diversity in multiple system atrophy

MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features

MRI characteristics and scoring in HDLS due to CSF1R gene mutations

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease

Multiple system atrophy and apolipoprotein E.

NOTCH3 variants and risk of ischemic stroke

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

Occurrence of Crohn's disease with Parkinson's disease.

Phactr2 and Parkinson's disease

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

Segmentation of the Globus Pallidus Internus Using Probabilistic Diffusion Tractography for Deep Brain Stimulation Targeting in Parkinson Disease.

Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

TREM2 p.R47H substitution is not associated with dementia with Lewy bodies

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia