Résultat correspond à votre recherche
-
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
Matias Simons, Gwenn Le Meur
Source : Cell Rep
2019 déc 25
Pmid / DOI: 31875549
-
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Corinne Antignac, Matias Simons, Patrick Nitschké, Christine Bole, Olivier Gribouval, Olivia Boyer
Source : J. Clin. Invest.
2019 déc 3
Pmid / DOI: 31613795
-
The Benefits of Tubular Proteinuria: An Evolutionary Perspective.
Matias Simons
Source : J. Am. Soc. Nephrol.
2019 sep 17
Pmid / DOI: 29371418
-
De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.
Claude Besmond, Matias Simons, Stanislas Lyonnet, Arnold Munnich, Nathalie Boddaert, Marlène Rio
Source : J. Med. Genet.
2019 aoû 25
Pmid / DOI: 31439720
-
Filling the Gap: Drosophila Nephrocytes as Model System in Kidney Research.
Matias Simons, Zvonimir Marelja
Source : J. Am. Soc. Nephrol.
2019 juil 3
Pmid / DOI: 30910933
-
Mutations in ATP6AP2 cause autophagic liver disease in humans.
Matias Simons
Source : Autophagy
2019 juin 28
Pmid / DOI: 29388887
-
Matias Simons
Source : Diabetologia
2019 juin 25
Pmid / DOI: 30547231
-
U-Net: deep learning for cell counting, detection, and morphometry.
Matias Simons
Source : Nat. Methods
2019 juin 24
Pmid / DOI: 30559429
-
ATP6AP2 functions as a V-ATPase assembly factor in the endoplasmic reticulum.
Matias Simons
Source : Mol. Biol. Cell
2019 avr 25
Pmid / DOI: 29995586
-
Vacuolar ATPase is required for ERK-dependent wound healing in the Drosophila embryo.
Matias Simons
Source : Wound Repair Regen
2018 oct 11
Pmid / DOI: 29418044
-
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
Matias Simons, Corinne Antignac, Christine Bole
Source : PLoS Genet.
2018 juin 26
Pmid / DOI: 29768408
-
Using Drosophila nephrocytes in genetic kidney disease.
Matias Simons
Source : Cell Tissue Res.
2018 mar 15
Pmid / DOI: 28401308
-
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects.
Matias Simons
Source : J. Exp. Med.
2017 déc 19
Pmid / DOI: 29127204
-
Nadia Bahi-Buisson, Sophie Thomas, Matias Simons, Vincent Cantagrel, Meriem Garfa-Traoré , Patrick Nitschké, Tania Attié-Bitach
Source : Brain
2017 oct 6
Pmid / DOI: 28969387
-
Corinne Antignac, Matias Simons, Christelle Arrondel, Olivier Gribouval, Olivia Boyer
Source : J. Clin. Invest.
2017 sep 8
Pmid / DOI: 28165339