Lista de obras - Tammy Gillis - Dominio Público Uruguay

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 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

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

artículo científico publicado en 2016

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

artículo científico publicado en 2016

A patient-derived cellular model for Huntington's disease reveals phenotypes at clinically relevant CAG lengths.

artículo científico publicado en 2018

Assessment of cortical and striatal involvement in 523 Huntington disease brains

artículo científico publicado en 2012

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

artículo científico publicado en 2005

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease

artículo científico publicado en 2006

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

artículo científico publicado en 2013

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

artículo científico publicado en 2012

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

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

artículo científico publicado en 2010

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

artículo científico publicado en 2018

Genetic analysis of the GRIK2 modifier effect in Huntington's disease

artículo científico publicado en 2006

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice

artículo científico publicado en 2006

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

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

artículo científico publicado en 2015

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

HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction

artículo científico publicado en 2018

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

artículo científico publicado en 2008

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

artículo científico publicado en 2006

Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease

artículo científico publicado en 2013

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

artículo científico publicado en 2008

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches

artículo científico publicado en 2013

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice ⬇️

artículo científico publicado el 7 de septiembre de 2012

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse ⬇️

artículo científico publicado el 21 de diciembre de 2001

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

artículo científico publicado en 2017

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

artículo científico publicado en 2016

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

artículo científico publicado en 2012

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

artículo científico publicado en 2012

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

artículo científico publicado en 2015

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

artículo científico publicado en 2010

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver ⬇️

artículo científico publicado el 29 de agosto de 2011

Sequence-Level Analysis of the Major European Huntington Disease Haplotype

artículo científico publicado en 2015

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

artículo científico publicado en 2009

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

artículo científico publicado en 2012

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease

artículo científico publicado en 2016

Lista de obras de Tammy Gillis

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

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

A novel approach to investigate tissue-specific trinucleotide repeat instability

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

A patient-derived cellular model for Huntington's disease reveals phenotypes at clinically relevant CAG lengths.

Assessment of cortical and striatal involvement in 523 Huntington disease brains

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset

Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region

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 ⬇️

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

Genetic analysis of the GRIK2 modifier effect in Huntington's disease

Genetic background modifies nuclear mutant huntingtin accumulation and HD CAG repeat instability in Huntington's disease knock-in mice

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

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease

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

HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study

Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study

Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease

Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes

Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches

Msh2 Acts in Medium-Spiny Striatal Neurons as an Enhancer of CAG Instability and Mutant Huntingtin Phenotypes in Huntington’s Disease Knock-In Mice ⬇️

Mutations in a Novel CLN6-Encoded Transmembrane Protein Cause Variant Neuronal Ceroid Lipofuscinosis in Man and Mouse ⬇️

Novel allele-specific quantification methods reveal no effects of adult onset CAG repeats on HTT mRNA and protein levels

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset

Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder

Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder

Quantification of Age-Dependent Somatic CAG Repeat Instability in Hdh CAG Knock-In Mice Reveals Different Expansion Dynamics in Striatum and Liver ⬇️

Sequence-Level Analysis of the Major European Huntington Disease Haplotype

Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease