Marie Legendre

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Jane S. Lucas, Angelo Barbato, Samuel A. Collins et al. · European Respiratory Journal · 2016 · 678 citations · Full text

Asthma, Disease Diagnosis, Allergy +12

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

Anne‐Christine Merveille, Erica E. Davis, Anita Becker-Heck et al. · Nature Genetics · 2010 · 339 citations · Full text

Normal Ciliary Motility, Molecular Biology, Cytoskeleton +4

Mutations in <i>COPA</i> lead to abnormal trafficking of STING to the Golgi and interferon signaling

Alice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan et al. · The Journal of Experimental Medicine · 2020 · 209 citations · Full text

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

Esther Kott, Philippe Duquesnoy, Bruno Copin et al. · The American Journal of Human Genetics · 2012 · 188 citations · Full text

Developmental Biology, Pathology, Outer Dynein Arms +5

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

Esther Kott, Marie Legendre, Bruno Copin et al. · The American Journal of Human Genetics · 2013 · 179 citations · Full text

Radial-spoke Defects, Pathology, Loss-of-function Mutations +3