Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

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

Muscle Biopsy: A Practical Approach

2020 • 1,357 citations

Myotonic Dystrophy

2001 • 931 citations

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

1998 • 800 citations

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

1999 • 623 citations

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

1995 • 576 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

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

The molecular basis of genetic dominance.

1994 • 327 citations

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

1993 • 302 citations

Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes

1994 • 262 citations

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP

1997 • 258 citations

Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy

2000 • 256 citations

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

2000 • 240 citations

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene

1997 • 216 citations

Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts

2000 • 208 citations

DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model

1999 • 200 citations

Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure.

1995 • 186 citations

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

1995 • 172 citations

Quantitative analysis of the human alpha-skeletal actin gene in transgenic mice.

1993 • 169 citations

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

1999 • 139 citations

Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model

1999 • 135 citations

Nucleotide sequence and expression of the human skeletal ?-actin gene: Evolution of functional regulatory domains*1

1988 • 84 citations

The myotonic mouse mutant ADR: Physiological and histochemical properties of muscle

1988 • 51 citations

Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness

1994 • 32 citations

MDX Mouse as Therapeutic Model System: Development and Implementation of Phenotypic Monitoring

1990 • 14 citations

Muscle Nuclear Changes in Myotonic Dystrophy

1980 • 10 citations