Élodie Pastural

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

Gaël Ménasché, Élodie Pastural, Jérôme Feldmann et al. · Nature Genetics · 2000 · 940 citations

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +10

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

Élodie Pastural, Franck J. Barrat, Rémi Dufourcq-Lagelouse et al. · Nature Genetics · 1997 · 456 citations

Myosin-va Gene, Genetic Disorder, Genetics +8

Two Genes Are Responsible for Griscelli Syndrome at the Same 15q21 Locus

Élodie Pastural, Fügen Ersoy, Nevin Yalman et al. · Genomics · 2000 · 119 citations

Same 15Q21, Genetic Disorder, Genetics +8

Novel plasma phospholipid biomarkers of autism: Mitochondrial dysfunction as a putative causative mechanism

Élodie Pastural, Shawn Ritchie, Yingshen Lu et al. · Prostaglandins Leukotrienes and Essential Fatty Acids · 2009 · 101 citations

Biomarker (Medicine), Mitochondrial Function, Mitochondrial Dysfunction +9

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Stéphanie Certain, Franck J. Barrat, Élodie Pastural et al. · PubMed · 2000 · 93 citations