Juana Barceló

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

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

Catherine Tsilfidis, Alex MacKenzie, Gabrielle Mettler et al. · Nature Genetics · 1992 · 350 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +4

Human mitochondrial topoisomerase I

Hongliang Zhang, Juana Barceló, Benson Lee et al. · Proceedings of the National Academy of Sciences · 2001 · 213 citations · Full text

Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat Mutation During Transmission

Kim O'Hoy, Catherine Tsilfidis, Mani S. Mahadevan et al. · Science · 1993 · 116 citations

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

Catherine Neville, MANU SUNDAVALU MAHADEVA, Juana Barceló et al. · Human Molecular Genetics · 1994 · 88 citations

Dm Kinase Gene, Genetics, Molecular Genetics +16