Published in Am J Med Genet on September 01, 1993
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
Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet (1994) 1.25
Can children and young people consent to be tested for adult onset genetic disorders? BMJ (1999) 1.19
Diagnosis of Huntington disease: model for a predictive testing program based on understanding the stages of psychological response. Am J Med Genet (1994) 0.79
Emotional and functional impact of DNA testing on patients with symptoms of Huntington's disease. J Med Genet (1995) 0.79
Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nat Genet (1999) 7.30
Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology (2006) 6.44
The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet (1993) 5.82
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
A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med (1994) 4.60
Association of adenovirus early-region 1A proteins with cellular polypeptides. Mol Cell Biol (1986) 4.14
A highly polymorphic locus very tightly linked to the Huntington's disease gene. Nature (1988) 3.90
Health checks in general practice: another example of inverse care? BMJ (1990) 3.83
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
Cell cycle-specific association of E2F with the p130 E1A-binding protein. Genes Dev (1993) 3.41
Cluster randomised controlled trial to compare three methods of promoting secondary prevention of coronary heart disease in primary care. BMJ (2001) 3.38
Point mutational inactivation of the retinoblastoma antioncogene. Science (1989) 3.37
Community attitudes to cystic fibrosis carrier testing in England: a pilot study. Prenat Diagn (1989) 3.19
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
The adenovirus E1A-associated 130-kD protein is encoded by a member of the retinoblastoma gene family and physically interacts with cyclins A and E. Genes Dev (1993) 3.10
A 60 kd cdc2-associated polypeptide complexes with the E1A proteins in adenovirus-infected cells. Cell (1989) 3.08
Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract. Nat Genet (1996) 3.08
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet (1993) 3.04
Patient participation in general practice: who participates? Br J Gen Pract (1991) 3.02
The cellular 107K protein that binds to adenovirus E1A also associates with the large T antigens of SV40 and JC virus. Cell (1989) 2.98
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
Non-alcoholic duct destructive chronic pancreatitis. Gut (1997) 2.79
Three year follow up of patients with raised blood pressure identified at health checks in general practice. BMJ (1989) 2.74
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
Transport of macromolecules between the nucleus and the cytoplasm. RNA (1998) 2.63
Predictive testing for Huntington disease in Canada: the experience of those receiving an increased risk. Am J Med Genet (1992) 2.53
Carrier transport in two-dimensional graphene layers. Phys Rev Lett (2007) 2.52
Cystic neoplasms of the pancreas and tumor-like lesions with cystic features: a review of 418 cases and a classification proposal. Virchows Arch (2004) 2.44
Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates. Nat Genet (1998) 2.42
Predictive testing for Huntington disease in Canada: adverse effects and unexpected results in those receiving a decreased risk. Am J Med Genet (1992) 2.39
The amino-terminal transforming region of simian virus 40 large T and small t antigens functions as a J domain. Mol Cell Biol (1997) 2.33
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet (1994) 2.31
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
Monoclonal antibodies to three non-glycosylated antigens of herpes simplex virus type 2. J Gen Virol (1982) 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
Randomized controlled trial of anti-smoking advice by nurses in general practice. J R Coll Gen Pract (1989) 2.01
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
Desire for the body normal: body image and discrepancies between self reported and measured height and weight in a British population. J Epidemiol Community Health (1996) 1.96
Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene. J Med Genet (1989) 1.95
Single-donor platelets reduce the risk of septic platelet transfusion reactions. Transfusion (2001) 1.94
The clinical correlation of an autopsy study of recurrent colorectal cancer. Ann Surg (1979) 1.93
Wild-type huntingtin protects from apoptosis upstream of caspase-3. J Neurosci (2000) 1.92
Stimulation of RAR alpha activation function AF-1 through binding to the general transcription factor TFIIH and phosphorylation by CDK7. Cell (1997) 1.91
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
The influence of huntingtin protein size on nuclear localization and cellular toxicity. J Cell Biol (1998) 1.87
Human cyclin A and the retinoblastoma protein interact with similar but distinguishable sequences in the adenovirus E1A gene product. Oncogene (1991) 1.84
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
The "Help Your Patient Stop" initiative. Evaluation of smoking prevalence and dissemination of WHO/UICC guidelines in UK general practice. Lancet (1989) 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
Characterization of two antigenic sites recognized by neutralizing monoclonal antibodies directed against the fusion glycoprotein of human respiratory syncytial virus. J Gen Virol (1992) 1.73
Measurement of scattering rate and minimum conductivity in graphene. Phys Rev Lett (2007) 1.73
Surgery for ductal adenocarcinoma of the pancreatic head: staging, complications, and survival after regional versus extended lymphadenectomy. World J Surg (2000) 1.72
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation (2001) 1.71
The syndrome of caudal dysplasia: a review, including etiologic considerations and evidence of heterogeneity. Pediatr Pathol (1984) 1.71
First-trimester prenatal diagnosis for Huntington's disease with DNA probes. Lancet (1987) 1.70
A new pathway for mitogen-dependent cdk2 regulation uncovered in p27(Kip1)-deficient cells. Curr Biol (1999) 1.70
Giant diverticula of the colon: a clinical assessment. Am J Gastroenterol (1997) 1.69
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
The urgency of diagnosis and surgical treatment of acute suppurative cholangitis. Am J Surg (1976) 1.63
Detection and treatment of recurrent cancer of the colon and rectum. Am J Surg (1978) 1.63
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