Helga Vitzthum

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

Karl P. Schlingmann, Stefanie Weber, Melanie Peters et al. · Nature Genetics · 2002 · 775 citations

Trpm Gene Family, Natural Sciences, Genetics +8

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow et al. · The American Journal of Human Genetics · 2006 · 511 citations · Full text

Urology, Ophthalmology, Medicine +7

Disruption of TRPM6/TRPM7 complex formation by a mutation in the <i>TRPM6</i> gene causes hypomagnesemia with secondary hypocalcemia

Vladimir Chubanov, Siegfried Waldegger, Michael Mederos y Schnitzler et al. · Proceedings of the National Academy of Sciences · 2004 · 369 citations · Full text

Polyhydramnios, Transient Antenatal Bartter’s Syndrome, and<i>MAGED2</i>Mutations

Kamel Laghmani, Bodo B. Beck, Sung-Sen Yang et al. · New England Journal of Medicine · 2016 · 181 citations · Full text

Barttin increases surface expression and changes current properties of ClC-K channels

Siegfried Waldegger, Nikola Jeck, Petra Barth et al. · Pflügers Archiv - European Journal of Physiology · 2002 · 171 citations

Clc-k Channels, Signal Transduction, Hyperpolarization (Biology) +8