Structures of trinucleotide repeats in human transcripts and their functional implications

Initial sequencing and analysis of the human genome

2001 • 23,520 citations

Expanded sequence dependence of thermodynamic parameters improves prediction of RNA secondary structure

1999 • 3,775 citations

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996 • 2,667 citations

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

1991 • 1,456 citations

Initiation of translation in prokaryotes and eukaryotes

1999 • 1,379 citations

Pre-mRNA splicing and human disease

2003 • 1,242 citations

Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

2001 • 1,191 citations

Algorithms and Thermodynamics for RNA Secondary Structure Prediction: A Practical Guide

1999 • 1,146 citations

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X

2001 • 903 citations

Recruitment of human muscleblind proteins to (CUG)n expansions associated with myotonic dystrophy

2000 • 880 citations

Disruption of Splicing Regulated by a CUG-Binding Protein in Myotonic Dystrophy

1998 • 800 citations

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

2001 • 768 citations

Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

2002 • 629 citations

Transcriptional Activation Modulated by Homopolymeric Glutamine and Proline Stretches

1994 • 598 citations

Loss of the Muscle-Specific Chloride Channel in Type 1 Myotonic Dystrophy Due to Misregulated Alternative Splicing

2002 • 592 citations

Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

1995 • 576 citations

Fourteen and counting: unraveling trinucleotide repeat diseases

2000 • 460 citations

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells

2002 • 433 citations

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2

2001 • 425 citations

The CELF Family of RNA Binding Proteins Is Implicated in Cell-Specific and Developmentally Regulated Alternative Splicing

2001 • 420 citations

Glutamine Repeats and Neurodegenerative Diseases: Molecular Aspects

2002 • 354 citations

The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure.

1994 • 318 citations

Expanded CUG repeat RNAs form hairpins that activate the double-stranded RNA-dependent protein kinase PKR

2000 • 240 citations

The aetiology of sporadic adult‐onset ataxia

2002 • 229 citations

Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities

2001 • 221 citations

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

2001 • 213 citations

RNA structure of trinucleotide repeats associated with human neurological diseases

2003 • 210 citations

Solution Structure of a DNA Quadruplex Containing the Fragile X Syndrome Triplet Repeat

1995 • 194 citations

Novel Proteins with Binding Specificity for DNA CTG Repeats And RNA Cug Repeats: Implications for Myotonic Dystrophy

1996 • 192 citations

Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation

1995 • 172 citations

Reelin gene alleles and susceptibility to autism spectrum disorders

2002 • 167 citations

Repeat Polymorphisms within Gene Regions: Phenotypic and Evolutionary Implications

2000 • 162 citations

CUG Repeats Present in Myotonin Kinase RNA Form Metastable “Slippery” Hairpins

1997 • 162 citations

Human genes containing polymorphic trinucleotide repeats

1992 • 151 citations

Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein

1999 • 139 citations

Polyglutamines Placed into Context

2003 • 138 citations

A Family of Human RNA-binding Proteins Related to theDrosophila Bruno Translational Regulator

2000 • 132 citations

The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders

2000 • 131 citations

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes

2002 • 130 citations

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells

2002 • 130 citations

Genetic background of apparently idiopathic sporadic cerebellar ataxia

2000 • 128 citations

Structural genomics of RNA.

2000 • 123 citations

Cardiac elav-type RNA-binding protein (ETR-3) binds to RNA CUG repeats expanded in myotonic dystrophy

1999 • 117 citations

Dominantly inherited, non-coding microsatellite expansion disorders

2002 • 117 citations

Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue

2001 • 110 citations

cDNAs with long CAG trinucleotide repeats from human brain

1997 • 103 citations

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes

2000 • 101 citations

A novel K(+)-dependent DNA synthesis arrest site in a commonly occurring sequence motif in eukaryotes.

1994 • 98 citations

Dynamic mutation: possible mechanisms and significance in human disease

1997 • 97 citations

Clinical and genetic heterogeneity in myotonic dystrophies

2000 • 89 citations

Distribution of Trinucleotide Microsatellites in Different Categories of Mammalian Genomic Sequence: Implications for Human Genetic Diseases

1994 • 86 citations

Triplet repeats in human genome: distribution and their association with genes and other genomic regions

2003 • 73 citations

Trinucleotide repeat disorders in humans: discussions of mechanisms and medical issues

1996 • 73 citations

Myotonic syndromes

2002 • 72 citations

Regulation of alternative splicing of α‐actinin transcript by Bruno‐like proteins

2002 • 68 citations

The unstable trinucleotide repeat story of major psychosis

2000 • 60 citations

Acid-facilitated Supramolecular Assembly of G-quadruplexes in d(CGG)β4

1995 • 44 citations

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

1999 • 35 citations

Expansion of the (CTG)n repeat in the 5'-UTR of a reporter gene impedes translation

2000 • 35 citations

Glutamine repeats and neurodegenerative diseases: molecular aspects

1999 • 25 citations

Myotonic Dystrophy: Discussion of Molecular Basis

2002 • 12 citations

An integrated map of chromosome 18 CAG trinucleotide repeat loci

1999 • 5 citations

Triplet repeats in human genome: distribution and their association with genes and other genomic regions

2003 • 4 citations

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

1999 • 3 citations