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

American journal of human genetics, 2016-02, Vol.98 (2), p.287-298

2016

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Genetic modifiers of Huntington's disease

Movement disorders, 2014-09, Vol.29 (11), p.1359-1365

2014

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RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

PloS one, 2015-12, Vol.10 (12), p.e0143563-e0143563

2015

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Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

American journal of human genetics, 2008-01, Vol.82 (1), p.199-207

2008

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

Human molecular genetics, 2017-10, Vol.26 (19), p.3859-3867

2017

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Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out

Human molecular genetics, 2020-11, Vol.29 (18), p.3044-3053

2020

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MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis

PLoS genetics, 2014-02, Vol.10 (2), p.e1004188-e1004188

2014

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

PLoS genetics, 2018-05, Vol.14 (5), p.e1007274

2018

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Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

American journal of human genetics, 2018-09, Vol.103 (3), p.349-357

2018

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Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat

Nature communications, 2024-04, Vol.15 (1), p.3182-3182

2024

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Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules

Cell, 2004-07, Vol.118 (1), p.127-138

2004

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Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease

The Journal of biological chemistry, 2009-07, Vol.284 (27), p.18167-18173

2009

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

Neurobiology of disease, 2009-01, Vol.33 (1), p.37-47

2009

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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

American journal of human genetics, 2012-07, Vol.91 (1), p.202-208

2012

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Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

The Journal of biological chemistry, 2006-07, Vol.281 (29), p.20483-20493

2006

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Huntingtin facilitates polycomb repressive complex 2

Human molecular genetics, 2010-02, Vol.19 (4), p.573-583

2010

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Hypomorphic mutation of the mouse Huntington's disease gene orthologue

PLoS genetics, 2019-03, Vol.15 (3), p.e1007765-e1007765

2019

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Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum

PLoS genetics, 2011-04, Vol.7 (4), p.e1002052-e1002052

2011

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Sequence-Level Analysis of the Major European Huntington Disease Haplotype

American journal of human genetics, 2015-09, Vol.97 (3), p.435-444

2015

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Huntington's disease: the case for genetic modifiers

Genome medicine, 2009-01, Vol.1 (8), p.80-80

2009

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Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

Science (American Association for the Advancement of Science), 2001-07, Vol.293 (5529), p.493-498

2001

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

Human molecular genetics, 2016-10, Vol.25 (20), p.4566-4576

2016

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Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease

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

Genetic modifiers of Huntington's disease

RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

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

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out

MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis

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

Complex reorganization and predominant non- homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase

Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat

Huntingtin Controls Neurotrophic Support and Survival of Neurons by Enhancing BDNF Vesicular Transport along Microtubules

Rrs1 Is Involved in Endoplasmic Reticulum Stress Response in Huntington Disease

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

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

Autophagy Is Disrupted in a Knock-in Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

Huntingtin facilitates polycomb repressive complex 2

Functionally defective germline variants of sialic acid acetylesterase in autoimmunity

Hypomorphic mutation of the mouse Huntington's disease gene orthologue

Deficiency of huntingtin has pleiotropic effects in the social amoeba Dictyostelium discoideum

Sequence-Level Analysis of the Major European Huntington Disease Haplotype

Huntington's disease: the case for genetic modifiers

Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

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

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