Published in Clin Genet on October 01, 2006
Characterization of the Huntington intermediate CAG repeat expansion phenotype in PHAROS. Neurology (2013) 2.45
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
CREB: a multifaceted regulator of neuronal plasticity and protection. J Neurochem (2010) 1.58
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet (2011) 1.41
Prevalence of incompletely penetrant Huntington's disease alleles among individuals with major depressive disorder. Am J Psychiatry (2010) 1.16
A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases. Prog Neurobiol (2013) 1.03
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). Am J Med Genet A (2009) 1.03
Autophagy and polyglutamine diseases. Prog Neurobiol (2011) 1.02
The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm. Am J Med Genet A (2010) 0.97
FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord (2011) 0.95
Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes. Eur J Hum Genet (2013) 0.88
CREB is a key regulator of striatal vulnerability in chemical and genetic models of Huntington's disease. Neurobiol Dis (2009) 0.86
Intermediate CAG Repeats in Huntington's Disease: Analysis of COHORT. Tremor Other Hyperkinet Mov (N Y) (2012) 0.84
Genetic screening of Greek patients with Huntington’s disease phenocopies identifies an SCA8 expansion. J Neurol (2012) 0.83
Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer. Eur J Hum Genet (2013) 0.82
Phosphorodiamidate morpholino oligomers suppress mutant huntingtin expression and attenuate neurotoxicity. Hum Mol Genet (2014) 0.80
Prospects for neuroprotective therapies in prodromal Huntington's disease. Mov Disord (2014) 0.80
Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am J Med Genet B Neuropsychiatr Genet (2015) 0.78
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet (2012) 0.78
What do we know about Late Onset Huntington's Disease? J Huntingtons Dis (2017) 0.77
Neuroprotective effect of caffeic acid phenethyl ester in 3-nitropropionic acid-induced striatal neurotoxicity. Korean J Physiol Pharmacol (2016) 0.75
Clinical utility gene card for: Huntington's disease. Eur J Hum Genet (2013) 0.75
Huntington disease reduced penetrance alleles occur at high frequency in the general population. Neurology (2016) 0.75
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30
The psychological consequences of predictive testing for Huntington's disease. Canadian Collaborative Study of Predictive Testing. N Engl J Med (1992) 5.51
Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease. Science (2001) 5.28
A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length. Clin Genet (2004) 4.73
Biochemical basis of DNA replication fidelity. Crit Rev Biochem Mol Biol (1993) 4.69
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet (2001) 3.59
A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration. Neuron (1999) 3.50
Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell (1995) 3.45
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet (1996) 3.08
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet (1997) 2.84
Replication of TPMT and ABCC3 genetic variants highly associated with cisplatin-induced hearing loss in children. Clin Pharmacol Ther (2013) 2.70
A one-hit model of cell death in inherited neuronal degenerations. Nature (2000) 2.65
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. Am J Med Genet (1992) 2.53
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet (1998) 2.42
Pharmacogenetics of neonatal opioid toxicity following maternal use of codeine during breastfeeding: a case-control study. Clin Pharmacol Ther (2008) 2.31
Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. J Biol Chem (1998) 2.23
Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n. Nucleic Acids Res (1990) 2.23
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome. Nature (1985) 2.19
Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations. Clin Genet (2007) 2.15
A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease. Am J Hum Genet (1999) 2.12
Clinical markers of early disease in persons near onset of Huntington's disease. Neurology (2001) 2.11
An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles. J Cell Biol (1999) 2.10
HIP1, a human homologue of S. cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain. Nat Genet (1997) 2.09
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. Lancet (1999) 2.02
Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes. J Clin Invest (2000) 1.98
A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet (1994) 1.97
Wild-type huntingtin protects from apoptosis upstream of caspase-3. J Neurosci (2000) 1.92
The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol (1998) 1.87
Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice. Diabetologia (2010) 1.87
Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses. Hum Mol Genet (1997) 1.82
Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells. J Biol Chem (2000) 1.79
Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex. Cell Death Differ (1998) 1.76
NMDA receptor function in mouse models of Huntington disease. J Neurosci Res (2001) 1.76
Opinion: predictive testing for Huntington disease in childhood: challenges and implications. Am J Hum Genet (1990) 1.75
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation (2001) 1.71
First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70
Kennedy's disease: caspase cleavage of the androgen receptor is a crucial event in cytotoxicity. J Neurochem (1999) 1.66
Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children. Pediatr Blood Cancer (2013) 1.65
Lipoprotein lipase activity is associated with severity of angina pectoris. REGRESS Study Group. Circulation (2000) 1.65
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis. J Lipid Res (2001) 1.62
DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet (1987) 1.61
Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J (2011) 1.60
Identification of the human cytochrome P450, P450RAI-2, which is predominantly expressed in the adult cerebellum and is responsible for all-trans-retinoic acid metabolism. Proc Natl Acad Sci U S A (2000) 1.60
Diagnosis of Huntington disease: a model for the stages of psychological response based on experience of a predictive testing program. Am J Med Genet (1993) 1.59
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000. Clin Genet (2003) 1.58
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet (1995) 1.55
HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2. J Biol Chem (2001) 1.54
The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis. Proc Natl Acad Sci U S A (2001) 1.51
Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme. J Biol Chem (1996) 1.47
Genetic linkage between Huntington disease and the D4S10 locus in South African families: further evidence against non-allelic heterogeneity. Hum Genet (1991) 1.46
Predictive testing for Huntington disease: II. Demographic characteristics, life-style patterns, attitudes, and psychosocial assessments of the first fifty-one test candidates. Am J Med Genet (1989) 1.46
Enzymes work by solvation substitution rather than by desolvation. Proc Natl Acad Sci U S A (1989) 1.45
Communicating pharmacogenetic research results to breastfeeding mothers taking codeine: a pilot study of perceptions and benefits. Clin Pharmacol Ther (2010) 1.44
Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ (2004) 1.44
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet (1995) 1.43
A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene. Genomics (1987) 1.42
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency. Proc Natl Acad Sci U S A (1989) 1.41
Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet. Clin Genet (1989) 1.41
Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases. Am J Hum Genet (2001) 1.39
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet (1993) 1.39
George Huntington: the man behind the eponym. J Med Genet (1993) 1.39
Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo. Am J Hum Genet (2000) 1.38
The impact of establishing a local-enhanced service for treating sexually transmitted infections in primary care. Sex Transm Infect (2008) 1.37
Positron emission tomography in the early diagnosis of Huntington's disease. Neurology (1986) 1.33
Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hyperlipidaemic individuals. Atherosclerosis (1987) 1.32
Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1. J Biol Chem (2001) 1.28
Post-transcriptional regulation of extracellular matrix metalloproteinase in human heart end-stage failure secondary to ischemic cardiomyopathy. J Mol Cell Cardiol (1996) 1.27
Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease. Clin Genet (2003) 1.26
High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia. Clin Genet (2001) 1.26
Social perspectives in Huntington's chorea. S Afr Med J (1980) 1.26
Prediction of codeine toxicity in infants and their mothers using a novel combination of maternal genetic markers. Clin Pharmacol Ther (2012) 1.23
Different options for prenatal testing for Huntington's disease using DNA probes. J Med Genet (1989) 1.22
Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities. Proc Natl Acad Sci U S A (2006) 1.21
Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb (1991) 1.21
Molecular analysis of late onset Huntington's disease. J Med Genet (1993) 1.21
Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia. Am J Med Genet (1989) 1.21
Familial influence on age of onset among siblings with Huntington disease. Am J Med Genet (2001) 1.20
Pregnancy after lower urinary tract reconstruction for congenital abnormalities. BJU Int (2003) 1.20
Presymptomatic neuropsychological impairment in Huntington's disease. Arch Neurol (1988) 1.19
Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype. Hum Mol Genet (1996) 1.17
Rethinking genotype and phenotype correlations in polyglutamine expansion disorders. Hum Mol Genet (1997) 1.15
The prevalence of Huntington's chorea in South Africa. S Afr Med J (1980) 1.14
Managing intersex. BMJ (2001) 1.12
Subtype-specific enhancement of NMDA receptor currents by mutant huntingtin. J Neurochem (1999) 1.10
Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain. J Biol Chem (2000) 1.10
The prediction of exons through an analysis of spliceable open reading frames. Nucleic Acids Res (1992) 1.09
Ethyl-EPA in Huntington disease: a double-blind, randomized, placebo-controlled trial. Neurology (2005) 1.09
Role of arginine-38 in regulation of the cytochrome c oxidation-reduction equilibrium. Biochemistry (1989) 1.08
Mutant huntingtin enhances excitotoxic cell death. Mol Cell Neurosci (2001) 1.08
Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease. Neurology (2010) 1.07