Huguette Debaix

Involvement of TRPC in the abnormal calcium influx observed in dystrophic ( <i>mdx</i> ) mouse skeletal muscle fibers

Clarisse Vandebrouck, Dominique Martin, M. Colson‐Van Schoor et al. · The Journal of Cell Biology · 2002 · 332 citations · Full text

Spectrum of Mutations in Gitelman Syndrome

Rosa Vargas‐Poussou, Karin Dahan, Diana Kahila et al. · Journal of the American Society of Nephrology · 2011 · 232 citations · Full text

Developmental Anomaly, Rare Diseases, Mendelian Disorder +11

CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia

Marchel Stuiver, Sergio Laínez, Constanze Will et al. · The American Journal of Human Genetics · 2011 · 209 citations · Full text

Renal Mg2+ Handling, Dominant Hypomagnesemia, Is Mutated +11

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Beatrice Paola Festa, Zhiyong Chen, Marine Berquez et al. · Nature Communications · 2018 · 151 citations · Full text

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Alessandro Luciani, Anke Schumann, Marine Berquez et al. · Nature Communications · 2020 · 140 citations · Full text