Bé Wieringa

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

Requirement of Human Renal Water Channel Aquaporin-2 for Vasopressin-dependent Concentration of Urine

Peter M.T. Deen, Marian Verdijk, Nine V.A.M. Knoers et al. · Science · 1994 · 875 citations

Urology, Signal Transduction, Molecular Physiology +15

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

Charalampos Aslanidis, Gert Jansen, Chris T. Amemiya et al. · Nature · 1992 · 499 citations

Rare Diseases, Mendelian Disorder, Medicine +7

Skeletal muscles of mice deficient in muscle creatine kinase lack burst activity

Jan van Deursen, A. Heerschap, Frank Oerlemans et al. · Cell · 1993 · 352 citations

Muscle Function, Kinesiology, Signal Transduction +12