Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia

by Suzanne Crowley, Inês Azevedo, Mieke Boon, Andrew Bush, Ernst Eber, Eric Haarman, Bulent Karadag, Karsten Kötz, Margaret Leigh, Antonio Moreno-Galdó, Huda Mussaffi, Kim G. Nielsen, Heymut Omran, Jean-François Papon, Petr Pohunek, Kostas Priftis, Bernhard Rindlisbacher, Francesca Santamaria, Arunas Valiulis, Michal Witt, Panayiotis Yiallouros, Zorica Zivkovic, Claudia E. Kuehni, Jane S. Lucas
Published 2020-09-01

International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient represent...

by June K. Marthin, Jane S. Lucas, Mieke Boon, Carmen Casaulta, Suzanne Crowley, Damien M.S. Destouches, Ernst Eber, Amparo Escribano, Eric Haarman, Claire Hogg, Bernard Maitre, Gemma Marsh, Vendula Martinu, Antonio Moreno-Galdó, Huda Mussaffi, Heymut Omran, Petr Pohunek, Bernhard Rindlisbacher, Phil Robinson, Deborah Snijders, Woolf T. Walker, Panayiotis Yiallouros, Helle Krogh Johansen, Kim G. Nielsen
Published 2021-08-01

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities [version 2; referees: 2 approved]

by Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Revital Abitbul, Anthony Luder, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Marta Ben-Ami, Moshe Rotschild, Lea Bentur, David Shoseyov, Malena Cohen-Cymberknoh, Eitan Kerem, Avraham Avital, Chaim Springer, Avigdor Hevroni, Husein Dabbah, Arnon Elizur, Elie Picard, Shmuel Goldberg, Joseph Rivlin, Galit Livnat, Moran Lavie, Nael Alias, Ruth Soferman, Heike Olbrich, Johanna Raidt, Julia Wallmeier, Claudius Werner, Niki T. Loges, Heymut Omran
Published 2016-10-01

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities [version 1; referees: 2 approved]

by Israel Amirav, Mary Roduta Roberts, Huda Mussaffi, Avigdor Mandelberg, Yehudah Roth, Revital Abitbul, Anthony Luder, Hannah Blau, Soliman Alkrinawi, Micha Aviram, Marta Ben-Ami, Moshe Rotschild, Lea Bentur, David Shoseyov, Malena Cohen-Cymberknoh, Eitan Kerem, Avraham Avital, Chaim Springer, Avigdor Hevroni, Husein Dabbah, Arnon Elizur, Elie Picard, Shmuel Goldberg, Joseph Rivlin, Galit Livnat, Moran Lavie, Nael Alias, Ruth Soferman, Heike Olbrich, Johanna Raidt, Julia Wallmeier, Claudius Werner, Niki T. Loges, Heymut Omran
Published 2016-08-01

Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials

by Jane S. Lucas, Florian Gahleitner, Adelina Amorim, Mieke Boon, Philippa Brown, Carolina Constant, Simon Cook, Suzanne Crowley, Damien M.S. Destouches, Ernst Eber, Huda Mussaffi, Eric Haarman, Amanda Harris, Cordula Koerner-Rettberg, Claudia E. Kuehni, Philipp Latzin, Michael R. Loebinger, Natalie Lorent, Bernard Maitre, Antonio Moreno-Galdó, Kim G. Nielsen, Uğur Özçelik, Lue Katrine Drasbæk Philipsen, Petr Pohunek, Eva Polverino, Jessica Rademacher, Phil Robinson, Deborah Snijders, Panayiotis Yiallouros, Siobhán B. Carr
Published 2019-02-01

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

by Gerard W. Dougherty, Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta-Shma, Isabella Aprea, Katsura Minegishi, Yuan-Ping Pang, Petra Pennekamp, Niki T. Loges, Johanna Raidt, Rim Hjeij, Julia Wallmeier, Huda Mussaffi, Zeev Perles, Orly Elpeleg, Franziska Rabert, Hidetaka Shiratori, Stef J. Letteboer, Nicola Horn, Samuel Young, Timo Strünker, Friederike Stumme, Claudius Werner, Heike Olbrich, Katsuyoshi Takaoka, Takahiro Ide, Wang Kyaw Twan, Luisa Biebach, Jörg Große-Onnebrink, Judith A. Klinkenbusch, Kavita Praveen, Diana C. Bracht, Inga M. Höben, Katrin Junger, Jana Gützlaff, Sandra Cindrić, Micha Aviram, Thomas Kaiser, Yasin Memari, Petras P. Dzeja, Bernd Dworniczak, Marius Ueffing, Ronald Roepman, Kerstin Bartscherer, Nicholas Katsanis, Erica E. Davis, Israel Amirav, Hiroshi Hamada, Heymut Omran
Published 2020-11-01