Bernadette Chadefaux-Vekemans

Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy

Adrien Jézégou, Elisa Llinares, Christine Anne et al. · Proceedings of the National Academy of Sciences · 2012 · 183 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +15

Hyperhomocysteinaemia: a significant risk factor for cardiovascular disease in renal transplant recipients

Ziad A. Massy, Bernadette Chadefaux-Vekemans, Alain Chevalier et al. · Nephrology Dialysis Transplantation · 1994 · 153 citations

Medicine, Cardiology, Nephrology +9

A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

Patricia Lopes Pereira, Laetitia Magnol, Ignasi Sahún et al. · Human Molecular Genetics · 2009 · 120 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy

Florence Habarou, Yamina Hamel, Tobias B. Haack et al. · The American Journal of Human Genetics · 2017 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Late-Onset Nephropathic Cystinosis

Aude Servais, Jean‐Michel Goujon, Bernadette Chadefaux-Vekemans et al. · Clinical Journal of the American Society of Nephrology · 2008 · 83 citations

Medicine, Nephrology, Pathology +15