Published in Hum Mol Genet on October 01, 1993
The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size. Am J Hum Genet (1997) 2.84
Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet (2010) 2.67
Systematic behavioral evaluation of Huntington's disease transgenic and knock-in mouse models. Neurobiol Dis (2009) 2.29
Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet (1995) 1.84
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
Paternal factors and schizophrenia risk: de novo mutations and imprinting. Schizophr Bull (2001) 1.75
Familial transmission of the FMR1 CGG repeat. Am J Hum Genet (1996) 1.53
Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet (1994) 1.53
Sex-dependent mechanisms for expansions and contractions of the CAG repeat on affected Huntington disease chromosomes. Am J Hum Genet (1995) 1.43
Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet (1994) 1.38
CAG-encoded polyglutamine length polymorphism in the human genome. BMC Genomics (2007) 1.36
Molecular analysis of late onset Huntington's disease. J Med Genet (1993) 1.21
Huntington's Disease. Cold Spring Harb Perspect Biol (2011) 1.11
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet (2004) 1.08
Corticostriatal dysfunction and glutamate transporter 1 (GLT1) in Huntington's disease: interactions between neurons and astrocytes. Basal Ganglia (2012) 1.02
A critical window of CAG repeat-length correlates with phenotype severity in the R6/2 mouse model of Huntington's disease. J Neurophysiol (2011) 1.01
A large number of protein expression changes occur early in life and precede phenotype onset in a mouse model for huntington disease. Mol Cell Proteomics (2008) 0.99
Early onset Huntington disease: a neuronal degeneration syndrome. Eur J Pediatr (2004) 0.97
Pathogenic cellular phenotypes are germline transmissible in a transgenic primate model of Huntington's disease. Stem Cells Dev (2013) 0.94
Inhibition of DNA synthesis facilitates expansion of low-complexity repeats: is strand slippage stimulated by transient local depletion of specific dNTPs? Bioessays (2013) 0.94
Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease. J Neurol Neurosurg Psychiatry (1998) 0.89
Aggregation of polyQ proteins is increased upon yeast aging and affected by Sir2 and Hsf1: novel quantitative biochemical and microscopic assays. PLoS One (2012) 0.87
Current Status of Huntington's Disease in Korea: A Nationwide Survey and National Registry Analysis. J Mov Disord (2015) 0.87
Huntington disease--another chapter rewritten. Am J Hum Genet (1996) 0.86
Therapeutic approaches to preventing cell death in Huntington disease. Prog Neurobiol (2012) 0.84
Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease. J Med Genet (1995) 0.82
Huntington's disease: confirmation of diagnosis and presymptomatic testing in Spanish families by genetic analysis. J Neurol Neurosurg Psychiatry (1996) 0.80
Functional genomics approaches to neurodegenerative diseases. Mamm Genome (2008) 0.79
Genetic background modulates behavioral impairments in R6/2 mice and suggests a role for dominant genetic modifiers in Huntington’s disease pathogenesis. Mamm Genome (2012) 0.77
Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD. J Med Genet (1997) 0.77
Managing juvenile Huntington's disease. Neurodegener Dis Manag (2013) 0.76
Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene. J Med Genet (1997) 0.75
Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice. Genetics (2016) 0.75
Corticostriatal Dysfunction in Huntington's Disease: The Basics. Front Hum Neurosci (2016) 0.75
How reliable is (18)FDG PET for predicting the onset of Huntington's disease? Eur J Nucl Med Mol Imaging (2016) 0.75
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
A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N Engl J Med (1994) 4.60
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature (1992) 4.44
Volatile organic compounds in breath as markers of lung cancer: a cross-sectional study. Lancet (1999) 3.70
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet (1993) 3.04
Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. J Med Genet (2004) 2.95
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
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. Neurology (2007) 2.51
Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48
Effects at two years of a low-fat, high-carbohydrate diet on radiologic features of the breast: results from a randomized trial. Canadian Diet and Breast Cancer Prevention Study Group. J Natl Cancer Inst (1997) 2.46
The [18F]fluorodeoxyglucose method for the measurement of local cerebral glucose utilization in man. Circ Res (1979) 2.41
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm. Nat Genet (1994) 2.31
Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva. Am J Med Genet (2001) 2.24
The type I macrophage scavenger receptor binds to gram-positive bacteria and recognizes lipoteichoic acid. Proc Natl Acad Sci U S A (1994) 2.22
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature (1990) 2.20
Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study. Brain (2003) 2.20
Mutations of the noggin and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP). Genet Couns (2007) 2.09
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
Chromosome 19 locus apolipoprotein C-II association with multiple sclerosis. Mult Scler (1999) 2.04
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
Genetic analysis of lon mutants of strain K-12 of Escherichia coli. Mol Gen Genet (1968) 1.97
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
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci (2004) 1.92
Variation in volatile organic compounds in the breath of normal humans. J Chromatogr B Biomed Sci Appl (1999) 1.91
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. Neurol Sci (2003) 1.90
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness. Am J Hum Genet (2002) 1.86
Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%. Am J Hum Genet (1997) 1.84
Loss of normal huntingtin function: new developments in Huntington's disease research. Trends Neurosci (2001) 1.84
Ultraviolet sensitivity gene of Escherichia coli B. J Bacteriol (1968) 1.83
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
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet (1994) 1.79
Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics (1992) 1.79
Mammographic densities as a marker of human breast cancer risk and their use in chemoprevention. Curr Oncol Rep (2001) 1.78
A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet (2000) 1.76
Effect of ethambutol on the viable cell count in Mycobacterium smegmatis. Antimicrob Agents Chemother (1977) 1.72
Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by Epstein-Barr virus complementary RNA/DNA and viral DNA/DNA hybridization. Cancer Res (1981) 1.72
Effect of a recA gene on cell division and capsular polysaccharide production in a lon strain of Escherichia coli. Genet Res (1969) 1.64
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
Generation of miniplasmids from copy number mutants of the R plasmid NR1. J Bacteriol (1977) 1.62
Self-regulatory perseveration and the depressive self-focusing style: a self-awareness theory of reactive depression. Psychol Bull (1987) 1.62
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
Enrofloxacin-associated retinal degeneration in cats. Vet Ophthalmol (2001) 1.58
Mapping of sul, the suppressor of lon in Escherichia coli. J Bacteriol (1975) 1.57
Mapping the whole human genome by fingerprinting yeast artificial chromosomes. Cell (1992) 1.57
A dual-process model of defense against conscious and unconscious death-related thoughts: an extension of terror management theory. Psychol Rev (1999) 1.57
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
Acute and long-term effects on limb function of combined modality limb sparing therapy for extremity soft tissue sarcoma. Int J Radiat Oncol Biol Phys (1991) 1.53
Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet (1994) 1.53
Internal mammary artery perfusing Leriche's syndrome in association with significant coronary arteriosclerosis: four case reports and review of literature. Catheter Cardiovasc Interv (2000) 1.52
Infarction of the spinal cord. Brain (1966) 1.51
PFA-100 system: a new method for assessment of platelet dysfunction. Semin Thromb Hemost (1998) 1.48
Effects of ethambutol on phospholipid metabolism in Mycobacterium smegmatis. Antimicrob Agents Chemother (1981) 1.47
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Interaction of the expression of two membrane genes, acrA and plsA, in Escherichia coli K-12. J Bacteriol (1975) 1.46
Prostaglandins reverse inhibition of electrically-induced contractions of guinea pig ileum by morphine, indomethacin and acetylsalicylic acid. Nat New Biol (1973) 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
Agreement among three quality of life measures in patients with ALS. Amyotroph Lateral Scler Other Motor Neuron Disord (2000) 1.42
Locus for radiation resistance in Escherichia coli strain B-r. Genetics (1969) 1.41
Interscalene block for shoulder arthroscopy: comparison with general anesthesia. Arthroscopy (1993) 1.41
DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence. Hum Mol Genet (1994) 1.40
A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet (1990) 1.39
A PCR method for accurate assessment of trinucleotide repeat expansion in Huntington disease. Hum Mol Genet (1993) 1.39
[A patient with lessened sensitivity to acenocoumarol during a period of enteral feeding]. Ned Tijdschr Geneeskd (2004) 1.39
Mutation screening in Rett syndrome patients. J Med Genet (2000) 1.38
Pediatric oncology in developing countries: development of an alliance of stakeholders. Med Pediatr Oncol (2001) 1.38
Loci for radiation sensitivity in Escherichia coli strain Bs-1. Genetics (1967) 1.38
Evidence for terror management theory: I. The effects of mortality salience on reactions to those who violate or uphold cultural values. J Pers Soc Psychol (1989) 1.35
Low brain-derived neurotrophic factor (BDNF) levels in serum of Huntington's disease patients. Am J Med Genet B Neuropsychiatr Genet (2007) 1.35
Loci of radiation sensitivity in Bs strains of Escherichia coli. Genet Res (1968) 1.34
Cervical myelopathy in rheumatoid arthritis. Clin Exp Rheumatol (1985) 1.33
Plasma D-dimer levels in operable breast cancer patients correlate with clinical stage and axillary lymph node status. J Clin Oncol (2000) 1.31
HIV-seropositive men who engage in high-risk sexual behaviour: psychological characteristics and implications for prevention. AIDS Care (1997) 1.31
DNA linkage analysis of X-linked retinoschisis. Hum Genet (1988) 1.31
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet (2000) 1.29
Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun (2005) 1.28
Evidence for integrated EBV genomes in Raji cellular DNA. Nucleic Acids Res (1984) 1.27
Aspergillus meningitis: diagnosis by non-culture-based microbiological methods and management. J Clin Microbiol (1999) 1.27
Ventricular shunting for relief of senile symptoms. JAMA (1973) 1.26
exrB: a malB-linked gene in Escherichia coli B involved in sensitivity to radiation and filament formation. Genet Res (1974) 1.26