Nadine Gougeard

Understanding pyrroline‐5‐carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure‐based analysis, and novel therapy with arginine

Diego Martinelli, Johannes Häberle, Vicente Rubio et al. · Journal of Inherited Metabolic Disease · 2011 · 59 citations

Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

Enea Sancho‐Vaello, Clara Marco‐Marín, Nadine Gougeard et al. · Human Mutation · 2016 · 35 citations · Full text

Genetics, Molecular Biology, Molecular Genetics +19

The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: The case of the spike A222V mutation

Tiziana Ginex, Clara Marco‐Marín, Miłosz Wieczór et al. · PLoS Pathogens · 2022 · 30 citations · Full text

Engineering, Genetics, Viral Polymerase Mechanism +19

Identification of Mitofusin 1 and Complement Component 1q Subcomponent Binding Protein as Mitochondrial Targets in Systemic Lupus Erythematosus

Yann Becker, Jean‐Philippe Gagné, Anne‐Sophie Julien et al. · Arthritis & Rheumatology · 2022 · 23 citations

The structural role of SARS-CoV-2 genetic background in the emergence and success of spike mutations: the case of the spike A222V mutation

Tiziana Ginex, Clara Marco‐Marín, Miłosz Wieczór et al. · 2021 · 13 citations · Full text

Genetics, Viral Pathogenesis, Immunology +17