Lista de obras -

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

artículo científico publicado en 2013

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

artículo científico publicado en 2003

A modifier of Huntington's disease onset at the MLH1 locus

artículo científico publicado en 2017

A novel approach to investigate tissue-specific trinucleotide repeat instability

artículo científico publicado en 2010

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative ⬇️

artículo científico publicado el 12 de agosto de 2011

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy ⬇️

artículo científico publicado el 16 de abril de 2013

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice

artículo científico publicado en 2002

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

scientific journal article

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

artículo científico publicado en 2009

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

artículo científico publicado en 2006

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes

artículo científico publicado en 2014

Haplotype-based stratification of Huntington's disease

artículo científico publicado en 2017

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds

artículo científico publicado en 2017

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

scientific article published on 29 September 2020

Huntingtin facilitates polycomb repressive complex 2.

artículo científico publicado en 2009

Huntington's disease

artículo científico publicado en 2003

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice

artículo científico publicado en 2002

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

artículo científico publicado en 2016

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

artículo científico publicado en 2012

Population-specific genetic modification of Huntington's disease in Venezuela.

artículo científico publicado en 2018

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

artículo científico publicado en 2003

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease

artículo científico publicado en 2015

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

artículo científico publicado en 2014

Lista de obras de

A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study.

A modifier of Huntington's disease onset at the MLH1 locus

A novel approach to investigate tissue-specific trinucleotide repeat instability

Differential effects of the Huntington's disease CAG mutation in striatum and cerebellum are quantitative not qualitative ⬇️

Dominant effects of the Huntington's disease HTT CAG repeat length are captured in gene-expression data sets by a continuous analysis mathematical modeling strategy ⬇️

Early phenotypes that presage late-onset neurodegenerative disease allow testing of modifiers in Hdh CAG knock-in mice

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Genome-wide significance for a modifier of age at neurological onset in Huntington's disease at 6q23-24: the HD MAPS study

HD CAGnome: a search tool for huntingtin CAG repeat length-correlated genes

Haplotype-based stratification of Huntington's disease

High resolution time-course mapping of early transcriptomic, molecular and cellular phenotypes in Huntington's disease CAG knock-in mice across multiple genetic backgrounds

Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice

Huntingtin facilitates polycomb repressive complex 2.

Huntington's disease

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice

Large-scale phenome analysis defines a behavioral signature for Huntington's disease genotype in mice

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

Population-specific genetic modification of Huntington's disease in Venezuela.

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice

The Genetic Modifiers of Motor OnsetAge (GeM MOA) Website: Genome-wide Association Analysis for Genetic Modifiers of Huntington's Disease

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families