Lucia Bartoloni

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Antonio Barbato, Thomas Frischer, Claudia E. Kuehni et al. · European Respiratory Journal · 2009 · 516 citations · Full text

Abnormal Ciliary Structure, Pcd Formulates Recommendations, Respiratory Diseases +12

Mutations in the <i>DNAH11</i> (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Lucia Bartoloni, Jean‐Louis Blouin, Yanzhen Pan et al. · Proceedings of the National Academy of Sciences · 2002 · 359 citations · Full text

<i>DNAH5</i> Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

Nada Hornef, Heike Olbrich, Judit Horváth et al. · American Journal of Respiratory and Critical Care Medicine · 2006 · 342 citations · Full text

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by <i>DNAH11</i> mutations

Georg C. Schwabe, Katrin Hoffmann, Niki T. Loges et al. · Human Mutation · 2007 · 237 citations

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

Daniel Toddie-Moore, Alexandros Onoufriadis, Amelia Shoemark et al. · The American Journal of Human Genetics · 2013 · 171 citations · Full text