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

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

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

1992 • 1,609 citations

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

1992 • 1,437 citations

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

1992 • 721 citations

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

1995 • 576 citations

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

1992 • 497 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

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

Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

1993 • 302 citations

The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.

1992 • 211 citations

Relationship Between Parental Trinucleotide GCT Repeat Length and Severity of Myotonic Dystrophy in Offspring

1993 • 193 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

Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes

1997 • 135 citations

Full-length myotonin protein kinase (72 kDa) displays serine kinase activity.

1995 • 68 citations

Myotonic dystrophy: discussion of molecular mechanism.

1996 • 37 citations