Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis

por Schramm, Andre, Raidt, Johanna, Gross, Anika, Böhmer, Maik, Beule, Achim Georg, Omran, Heymut
Publicado 2023

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure

por Biebach, Luisa, Cindrić, Sandra, Koenig, Julia, Aprea, Isabella, Dougherty, Gerard W., Raidt, Johanna, Bracht, Diana, Ruppel, Renate, Schreiber, Jens, Hjeij, Rim, Olbrich, Heike, Omran, Heymut
Publicado 2022

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

por Aprea, Isabella, Nöthe-Menchen, Tabea, Dougherty, Gerard W, Raidt, Johanna, Loges, Niki T, Kaiser, Thomas, Wallmeier, Julia, Olbrich, Heike, Strünker, Timo, Kliesch, Sabine, Pennekamp, Petra, Omran, Heymut
Publicado 2021

Registries and collaborative studies for primary ciliary dyskinesia in Europe

por Ardura-Garcia, Cristina, Goutaki, Myrofora, Carr, Siobhán B., Crowley, Suzanne, Halbeisen, Florian S., Nielsen, Kim G., Pennekamp, Petra, Raidt, Johanna, Thouvenin, Guillaume, Yiallouros, Panayiotis K., Omran, Heymut, Kuehni, Claudia E.
Publicado 2020

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

por Aprea, Isabella, Raidt, Johanna, Höben, Inga Marlena, Loges, Niki Tomas, Nöthe-Menchen, Tabea, Pennekamp, Petra, Olbrich, Heike, Kaiser, Thomas, Biebach, Luisa, Tüttelmann, Frank, Horvath, Judit, Schubert, Maria, Krallmann, Claudia, Kliesch, Sabine, Omran, Heymut
Publicado 2021

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

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

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

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

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

por Raidt, Johanna, Maitre, Bernard, Pennekamp, Petra, Altenburg, Josje, Anagnostopoulou, Pinelopi, Armengot, Miguel, Bloemsma, Lizan D., Boon, Mieke, Borrelli, Melissa, Brinkmann, Folke, Carr, Siobhan B., Carroll, Mary P., Castillo-Corullón, Silvia, Coste, André, Cutrera, Renato, Dehlink, Eleonora, Destouches, Damien M.S., Di Cicco, Maria E., Dixon, Lucy, Emiralioglu, Nagehan, Erdem Eralp, Ela, Haarman, Eric G., Hogg, Claire, Karadag, Bulent, Kobbernagel, Helene E., Lorent, Natalie, Mall, Marcus A., Marthin, June K., Martinu, Vendula, Narayanan, Manjith, Ozcelik, Ugur, Peckham, Daniel, Pifferi, Massimo, Pohunek, Petr, Polverino, Eva, Range, Simon, Ringshausen, Felix C., Robson, Evie, Roehmel, Jobst, Rovira-Amigo, Sandra, Santamaria, Francesca, Schlegtendal, Anne, Szépfalusi, Zsolt, Tempels, Petra, Thouvenin, Guillaume, Ullmann, Nicola, Walker, Woolf T., Wetzke, Martin, Yiallouros, Panayiotis, Omran, Heymut, Nielsen, Kim G.
Publicado 2022