Citation Impact
Citing Papers
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease.
1995
Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
2003
The DNA-damage response in human biology and disease
2009 StandoutNature
The cortical neuritic pathology of Huntington's disease
1995
The Huntington's disease candidate region exhibits many different haplotypes
1992
A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4
1991
Increased recombination adjacent to the Huntington disease-linked D4S10 marker
1991
Differential clinical and motor control function in a pair of monozygotic twins with Huntington's disease
1999
Roles of the ankyrin repeats and C-terminal region of the mouse Notch1 intracellular region
1998 StandoutNobel
The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p
1992
Huntingtin Is Ubiquitinated and Interacts with a Specific Ubiquitin-conjugating Enzyme
1996
The Ubiquitin Proteasome System in Neurodegenerative Diseases
2003 StandoutNobel
Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form
1995
A Worldwide Assessment of the Frequency of Suicide, Suicide Attempts, or Psychiatric Hospitalization after Predictive Testing for Huntington Disease
1999
Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases
2002 StandoutNature
The epidemiology of Huntington's disease
1992
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch syndrome)
1996
Activation of Atypical Protein Kinase C ζ by Caspase Processing and Degradation by the Ubiquitin-Proteasome System
2000 StandoutNobel
Loss of normal huntingtin function: new developments in Huntington's disease research
2001
Localization of the Gene for a Novel Autosomal Recessive Neurodegenerative Huntington-Like Disorder to 4p15.3
2000
Huntington's disease
2007 Standout
The GRK4 Subfamily of G Protein-coupled Receptor Kinases
1999 StandoutNobel
Mapping of cosmid clones in Huntington's disease region of chromosome 4
1991
Modulation of age at onset of Huntington disease patients by variations in TP53 and human caspase activated DNase (hCAD) genes
2004
Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis
2003
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
2004 StandoutNature
Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue
1995
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4
1996 Standout
Imprinting: a gamete's point of view
1994
Huntington’s disease
2006
Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum
2003
Slipped-strand DNAs formed by long (CAG)middle dot(CTG) repeats: slipped-out repeats and slip-out junctions
2002
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes
1995
Lessons from Hereditary Colorectal Cancer
1996 Standout
Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi
2002
Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection
1996 Standout
Cell Death
2004 Standout
CAG mutation effect on rate of progression in Huntington's disease
2002
Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology
2000
The biochemistry of apoptosis
2000 StandoutNature
Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?
2000
Identification of the Ubiquitin Carrier Proteins, E2s, Involved in Signal-induced Conjugation and Subsequent Degradation of IκBα
1999 StandoutNobel
The Histone Chaperone Spt6 Is Required for Activation-induced Cytidine Deaminase Target Determination through H3K4me3 Regulation
2012 StandoutNobel
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
1996 Standout
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
2003
New DNA markers in the Huntington's disease gene candidate region
1991
Molecular Genetics of Huntington’s Disease
1998
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease
2003
Protein degradation and protection against misfolded or damaged proteins
2003 StandoutNature
Apoptosis in Huntington's disease
2003
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
1996
Protein folding and misfolding
2003 StandoutNature
Generation and characterization of irradiation hybrids of human chromosome 4
1991
Demographic history and linkage disequilibrium in human populations
1997 StandoutNobel
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
1999
Caspase structure, proteolytic substrates, and function during apoptotic cell death
1999
Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region
1992
Transgenic models of Huntington's disease
1997
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
1995
Characterization of the G Protein-coupled Receptor Kinase GRK4
1996 StandoutNobel
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
1995
Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability
2000
A Novel Multiple PDZ Domain-containing Molecule Interacting withN-Methyl-d-aspartateReceptors and Neuronal Cell Adhesion Proteins
1998 StandoutNobel
DNA analysis in hereditary dentatorubral-pallidoluysian atrophy
1995
Fatal Familial Insomnia and Familial Creutzfeldt‐Jakob Disease: Clinical, Pathological and Molecular Features
1995
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence
1994 Nobel
Prescribing Personalized Nutrition for Cardiovascular Health: Are We Ready?
2014 Standout
A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene
1993
Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA
1998
The PtdIns(3,4)P2 phosphatase INPP4A is a suppressor of excitotoxic neuronal death
2010 StandoutNatureNobel
Features of trinucleotide repeat instability in vivo
2008
Reduced Penetrance of the Huntington's Disease Mutation
1997
Inference of human population history from individual whole-genome sequences
2011 StandoutNature
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
2001
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
1996
Different phenotypic expression in monozygotic twins with Huntington disease
2003
Mechanisms of trinucleotide repeat instability during human development
2010
The epigenetics of aging and neurodegeneration
2015
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
1993 Standout
Cellular Defenses against Unfolded Proteins
2001
Structural analysis of the 5′ region of mouse and human huntington disease genes reveals conservation of putative promoter region and di- and trinucleotide polymorphisms
1995
Non-B DNA structure-induced genetic instability and evolution
2009
Family history and DNA analysis in patients with suspected Huntington's disease
2000
Implantation and the placenta: key pieces of the development puzzle
1994 StandoutScience
Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
1996 StandoutNature
Selective Neuronal Degeneration in Huntington's Disease
2006
Close Associations between Prevalences of Dominantly Inherited Spinocerebellar Ataxias with CAG-Repeat Expansions and Frequencies of Large Normal CAG Alleles in Japanese and Caucasian Populations
1998
The Neuropathology of Huntington’s Disease
2014
Subcellular localization of the Huntington's disease gene product in cell lines by immunofluorescence and biochemical subcellular fractionation
1996
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
1997
Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification
1992
Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees
1997
PCNA function in the activation and strand direction of MutLα endonuclease in mismatch repair
2010 StandoutNobel
DNA instability in postmitotic neurons
2008
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
1992
Likelihood methods for locating disease genes in nonequilibrium populations.
1995
Nonimmunoglobulin target loci of activation-induced cytidine deaminase (AID) share unique features with immunoglobulin genes
2012 StandoutNobel
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation
1997 Standout
fMRI biomarker of early neuronal dysfunction in presymptomatic Huntington's Disease.
2005
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
DNA analysis of Huntington’s disease
1999
Comparative sequence analysis of the human and pufferfish Huntington's disease genes
1995 StandoutNobel
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
1993 Standout
Neural Science
2000 StandoutNobel
Delayed clearance of very low density and intermediate density lipoproteins with enhanced conversion to low density lipoprotein in WHHL rabbits.
1982 StandoutNobel
Evidence for the Conformation of the Pathologic Isoform of the Prion Protein Enciphering and Propagating Prion Diversity
1996 StandoutScienceNobel
How neuroinflammation contributes to neurodegeneration
2016 StandoutScience
Adapting Proteostasis for Disease Intervention
2008 StandoutScience
Prions
1998 StandoutNobel
Familial influence on age of onset among siblings with Huntington disease*
2001
Mammalian Caspases: Structure, Activation, Substrates, and Functions During Apoptosis
1999 Standout
Neuroscience: Breaking Down Scientific Barriers to the Study of Brain and Mind
2000 StandoutScienceNobel
Notch Signaling: Cell Fate Control and Signal Integration in Development
1999 StandoutScience
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
2013 StandoutNobel
Oxidative Stress, Glutamate, and Neurodegenerative Disorders
1993 StandoutScience
High suicidal ideation in persons testing for Huntington's disease
2000
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
1997 StandoutScience
Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies.
1995
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Defined physical limits of the Huntington disease gene candidate region.
1991
A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.
1990
THE UBIQUITIN SYSTEM
1998 StandoutNobel
The threshold for polyglutamine-expansion protein aggregation and cellular toxicity is dynamic and influenced by aging in Caenorhabditis elegans
2002
Complex patterns of linkage disequilibrium in the Huntington disease region.
1991
A recombination event that redefines the Huntington disease region.
1992
Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows.
1981 StandoutNobel
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes.
1995
Quantitative neuropathological changes in presymptomatic Huntington's disease
2001
Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice
1999 StandoutNobel
Works of Jane Theilmann being referenced
Linkage disequilibrium and modification of risk for Huntington disease.
1991
Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program
1993
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing
1994
Interleukin-1α-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3
1997
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
1994
Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk
1992
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects
1993
A transcription map of the region containing the Huntington disease gene
1993
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
1994
A Worldwide Study of the Huntington's Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats
1994
Cloning and mapping of the -adducin gene close to D4S95 and assessment of its relationship to Huntington disease
1992
Localization of the cell death genes CPP32 and Mch-2 to human Chromosome 4q
1997
The Psychological Consequences of Predictive Testing for Huntington’s Disease
1992
Huntington disease without CAG expansion: phenocopies or errors in assignment?
1994
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90.
1989
Familial predisposition to recurrent mutations causing Huntington's disease: genetic risk to sibs of sporadic cases.
1993
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size.
1997
Attitudes toward direct predictive testing for the Huntington disease gene. Relevance for other adult-onset disorders. The Canadian Collaborative Group on Predictive Testing for Huntington Disease.
1993
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene.
1989
Molecular analysis of late onset Huntington's disease.
1993