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 · 703 citations · Full text

Medicine, Clinical Sciences, Diagnostic Reasoning +13

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 · 345 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9

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 · 216 citations · Full text

Life Sciences, Immunology, Molecular Biology +17

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

Marjorie Whitfield, Lucie Thomas, Émilie Béquignon et al. · The American Journal of Human Genetics · 2019 · 195 citations · Full text

Medicine, Genetics, Molecular Genetics +10

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

Life Sciences, Genetics, Molecular Genetics +12