Eduardo Machuca

Genotype–Phenotype Correlations in Non-Finnish Congenital Nephrotic Syndrome

Eduardo Machuca, Geneviève Benoît, Fabien Névo et al. · Journal of the American Society of Nephrology · 2010 · 149 citations

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant

Eduardo Machuca, Aurélie Hummel, Fabien Névo et al. · Kidney International · 2009 · 147 citations · Full text

Glomerulonephritis, Kidney Research, Medicine +11

Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome

Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek et al. · Nature Communications · 2019 · 93 citations · Full text

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Guillaume Dorval, Olivier Gribouval, Vanesa Martinez-Barquero et al. · Pediatric Nephrology · 2017 · 41 citations

Glomerulonephritis, Genetic Disorder, Medicine +8

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome

Geneviève Benoît, Eduardo Machuca, Fabien Névo et al. · Pediatric Nephrology · 2009 · 29 citations

Urology, Autoimmune Disease, Genetic Disorder +10