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Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions

Massimo Santoro, Marcella Masciullo, Roberta Pietrobono, Giulia Conte, Anna Modoni, Maria Laura Ester Bianchi, Valentina Rizzo, Maria Grazia Pomponi, Giorgio Tasca, Giovanni Neri,

Journal of Neurology · 2012 · 41 citations · 41 references

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41

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

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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 · 1.7K citations

, , +14

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

, , +11

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

Jack W. Miller · The EMBO Journal · 2000 · 937 citations · Full text

, , +9

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

Anne V. Philips, Lubov Timchenko, Thomas A. Cooper · Science · 1998 · 818 citations

, , +17