An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)

Strategies for multilocus linkage analysis in humans.

1984 • 2,600 citations

Handbook of clinical neurology

1986 • 1,951 citations

Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel

1997 • 1,571 citations

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

1998 • 800 citations

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

1995 • 576 citations

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

1993 • 473 citations

Identification of a (CUG)n Triplet Repeat RNA-Binding Protein and Its Expression in Myotonic Dystrophy

1996 • 444 citations

Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

1997 • 443 citations

THE CLINICAL FEATURES AND CLASSIFICATION OF THE LATE ONSET AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS

1982 • 402 citations

Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy

1992 • 350 citations

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1996 • 346 citations

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice

1996 • 332 citations

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

1995 • 301 citations

Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

1997 • 288 citations

Direct detection of novel expanded trinucleotide repeats in the human genome

1993 • 275 citations

Do natural antisense transcripts make sense in eukaryotes?

1998 • 275 citations

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7)

1998 • 269 citations

Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families

1997 • 254 citations

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families

1998 • 235 citations

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

1995 • 205 citations

Altered phosphorylation and intracellular distribution of a (CUG) _n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice

1997 • 155 citations

What makes an mRNA anti-sensi-itive?

1993 • 150 citations

Effect of Myotonic Dystrophy Trinucleotide Repeat Expansion on DMPK Transcription and Processing

1995 • 133 citations

Rapid cloning of expanded trinucleotide repeat sequences from genomic DNA

1998 • 103 citations

Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele

1993 • 86 citations

Genes involved in hereditary ataxias

1998 • 83 citations

Expanding complexity in myotonic dystrophy

1998 • 81 citations

Unstable mutations and neurodegenerative disorders

1998 • 35 citations