Heritable trinucleotide repeats and neurological disorders

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Transcriptional Regulation in Mammalian Cells by Sequence-Specific DNA Binding Proteins

1989 • 3,219 citations

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

1993 • 3,080 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

1992 • 2,719 citations

A polymorphic DNA marker genetically linked to Huntington's disease

1983 • 2,329 citations

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1991 • 2,062 citations

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

1992 • 1,609 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

1991 • 1,482 citations

Absence of expression of the FMR-1 gene in fragile X syndrome

1991 • 1,456 citations

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

1992 • 1,437 citations

Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

1994 • 1,122 citations

Slippage synthesis of simple sequence DNA

1992 • 1,091 citations

Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

1993 • 1,076 citations

Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n

1991 • 903 citations

Deletion analysis of GAL4 defines two transcriptional activating segments

1987 • 898 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1994 • 721 citations

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1992 • 721 citations

Progressive proximal spinal and bulbar muscular atrophy of late onset

1998 • 682 citations

Progressive proximal spinal and bulbar muscular atrophy of late onset

1968 • 614 citations

Transcriptional Activation Modulated by Homopolymeric Glutamine and Proline Stretches

1994 • 598 citations

Survey of human and rat microsatellites

1992 • 559 citations

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

1993 • 522 citations

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1992 • 497 citations

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

1993 • 473 citations

Triplet repeat mutations in human disease

1992 • 417 citations

Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues

1993 • 411 citations

Androgens Regulate the Dendritic Length of Mammalian Motoneurons in Adulthood

1986 • 376 citations

Meiotic stability and genotype – phenotype correlation of the trinucleotide repeat in X–linked spinal and bulbar muscular atrophy

1992 • 373 citations

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

1991 • 357 citations

Huntington's disease gene (IT15) is widely expressed in human and rat tissues

1993 • 338 citations

Cloning of a Transcriptionally Active Human TATA Binding Factor

1990 • 332 citations

Dynamic mutations: A new class of mutations causing human disease

1992 • 315 citations

Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism.

1989 • 301 citations

The Haw River Syndrome: Dentatorubropallidoluysian atrophy (DRPLA) in an African–American family

1994 • 214 citations

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

1991 • 213 citations

Fragile-X syndrome: unique genetics of the heritable unstable element.

1992 • 201 citations

Unstable DNA sequence in myotonic dystrophy

1992 • 199 citations

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

1993 • 188 citations

Genes with triplet repeats: candidate mediators of neuropsychiatric disorders

1993 • 187 citations

Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy

1993 • 182 citations

Fragile X checklist

1991 • 161 citations

Characterization of the myotonic dystrophy region predicts multiple protein isoform–encoding mRNAs

1992 • 145 citations

Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat Mutation During Transmission

1993 • 118 citations

Trinucleotide repeat expansions and human genetic disease

1994 • 116 citations

Molecular analysis and clinical correlations of the Huntington's disease mutation

1993 • 98 citations

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

1994 • 97 citations

Administration of testosterone attenuates neuronal loss following axotomy in the brain-stem motor nuclei of female rats

1989 • 94 citations

Androgen resistance caused by mutations in the androgen receptor gene

1991 • 88 citations

Reverse Mutation in Myotonic Dystrophy

1993 • 85 citations

Hereditary unstable DNA: a new explanation for some old genetic questions?

1991 • 73 citations

An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

1993 • 66 citations

Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

1991 • 45 citations

A study of DNA methylation in myotonic dystrophy.

1993 • 37 citations

Age at onset in Huntington's disease and methylation at D4S95.

1993 • 33 citations

The Puzzle of the Triple Repeats

1993 • 28 citations

A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population

1994 • 26 citations

Trinucleotide repeat repeat repeat

1993 • 12 citations

Triplet repeats on the rise

1993 • 10 citations

Genes for normal and diseased mental states

1994 • 6 citations

Huntington's is still holding out

1993 • 1 citations