Aline Tamalet

Rapid Improvement after Starting Elexacaftor–Tezacaftor–Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease

Pierre‐Régis Burgel, I. Durieu, R. Chiron et al. · American Journal of Respiratory and Critical Care Medicine · 2021 · 227 citations

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

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

Chiara Olcese, Mitali Patel, Amelia Shoemark et al. · Nature Communications · 2017 · 150 citations · Full text

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Jean‐François Papon, A. Coste, Françoise Roudot‐Thoraval et al. · European Respiratory Journal · 2009 · 146 citations · Full text

Suspected Pcd, Allergy, Transmission Electron Microscopy +14