Developmental expression of myotonic dystrophy protein kinase in brain and its relevance to clinical phenotype

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

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

Signal Transduction, Mendelian Disorder, Genetic Disorder +7

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

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.6K citations

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

Ying‐Hui Fu, Antonio Pizzuti, Raymond G. Fenwick et al. · Science · 1992 · 1.5K citations

Rare Diseases, Gene Related, Mendelian Disorder +15

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

Krishan Taneja, Mila E. McCurrach, Martin Schalling et al. · The Journal of Cell Biology · 1995 · 589 citations · Full text

Muscle Function, Genetics, Molecular Biology +16

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

Lubov Timchenko, J. W. Miller, Nikolai A. Timchenko et al. · Nucleic Acids Research · 1996 · 457 citations · Full text