Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Por Mirra, Virginia, Werner, Claudius, Santamaria, Francesca
Publicado no Front Pediatr (2017)

Diagnosis and management of primary ciliary dyskinesia

Por Werner, Claudius, Onnebrink, Jörg Große, Omran, Heymut
Publicado no Cilia (2015)

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis

Por Amirav, Israel, Mussaffi, Huda, Roth, Yehudah, Schmidts, Miriam, Omran, Heymut, Werner, Claudius
Publicado no BMC Res Notes (2015)

Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 mont...

Por Kobbernagel, Helene E., Buchvald, Frederik F., Haarman, Eric G., Casaulta, Carmen, Collins, Samuel A., Hogg, Claire, Kuehni, Claudia E., Lucas, Jane S., Omran, Heymut, Quittner, Alexandra L., Werner, Claudius, Nielsen, Kim G.
Publicado no BMC Pulm Med (2016)

The nexin-dynein regulatory complex subunit DRC 1 is essential for motile cilia function in algae and humans

Por Wirschell, Maureen, Olbrich, Heike, Werner, Claudius, Tritschler, Douglas, Bower, Raqual, Sale, Winfield, Loges, Niki T., Pennekamp, Petra, Lindberg, Sven, Stenram, Unne, Carlén, Birgitta, Horak, Elisabeth, Köhler, Gabriele, Nürnberg, Peter, Nürnberg, Gudrun, Porter, Mary E., Omran, Heymut
Publicado em 2013

Rapid response to systemic bevacizumab therapy in recurrent respiratory papillomatosis

Por MOHR, MICHAEL, SCHLIEMANN, CHRISTOPH, BIERMANN, CHRISTOPH, SCHMIDT, LARS-HENNING, KESSLER, TORSTEN, SCHMIDT, JOACHIM, WIEBE, KARSTEN, MÜLLER, KLAUS-MICHAEL, HOFFMANN, THOMAS K., GROLL, ANDREAS H., WERNER, CLAUDIUS, KESSLER, CHRISTINA, WIEWRODT, RAINER, RUDACK, CLAUDIA, BERDEL, WOLFGANG E.
Publicado em 2014

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

Por Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
Publicado no Am J Hum Genet (2015)

Evolutionary proteomics uncovers ancient associations of cilia with signaling pathways

Por Sigg, Monika Abedin, Menchen, Tabea, Lee, Chanjae, Johnson, Jeffery, Jungnickel, Melissa K., Choksi, Semil P., Garcia, Galo, Busengdal, Henriette, Dougherty, Gerard, Pennekamp, Petra, Werner, Claudius, Rentzsch, Fabian, Florman, Harvey M., Krogan, Nevan, Wallingford, John B., Omran, Heymut, Reiter, Jeremy F.
Publicado no Dev Cell (2017)

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Por Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große-Onnebrink, Jörg, Matter, Anja, Olbrich, Heike, Werner, Claudius, Pals, Gerard, Schmidts, Miriam, Omran, Heymut, Micha, Dimitra
Publicado no Am J Hum Genet (2017)

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Por Olbrich, Heike, Schmidts, Miriam, Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia, Burgoyne, Tom, Al Turki, Saeed, Hurles, Matthew E., Köhler, Gabriele, Schroeder, Josef, Nürnberg, Gudrun, Nürnberg, Peter, Chung, Eddie M.K., Reinhardt, Richard, Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M., Omran, Heymut
Publicado em 2012

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

Por Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
Publicado no Am J Hum Genet (2016)

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Por Frommer, Adrien, Hjeij, Rim, Loges, Niki T., Edelbusch, Christine, Jahnke, Charlotte, Raidt, Johanna, Werner, Claudius, Wallmeier, Julia, Große-Onnebrink, Jörg, Olbrich, Heike, Cindrić, Sandra, Jaspers, Martine, Boon, Mieke, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Marthin, June K., Nielsen, Kim G., Amirav, Israel, Elias, Nael, Kerem, Eitan, Shoseyov, David, Haeffner, Karsten, Omran, Heymut
Publicado no Am J Respir Cell Mol Biol (2015)

Mutations of DNAH11 in Primary Ciliary Dyskinesia Patients with Normal Ciliary Ultrastructure

Por Knowles, Michael R, Leigh, Margaret W, Carson, Johnny L, Davis, Stephanie D, Dell, Sharon D, Ferkol, Thomas W, Olivier, Kenneth N, Sagel, Scott D, Rosenfeld, Margaret, Burns, Kimberlie A., Minnix, Susan L, Armstrong, Michael C, Lori, Adriana, Hazucha, Milan J, Loges, Niki T, Olbrich, Heike, Becker-Heck, Anita, Schmidts, Miriam, Werner, Claudius, Omran, Heymut, Zariwala, Maimoona A
Publicado em 2011

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

Por Goutaki, Myrofora, Maurer, Elisabeth, Halbeisen, Florian S., Amirav, Israel, Barbato, Angelo, Behan, Laura, Boon, Mieke, Casaulta, Carmen, Clement, Annick, Crowley, Suzanne, Haarman, Eric, Hogg, Claire, Karadag, Bulent, Koerner-Rettberg, Cordula, Leigh, Margaret W., Loebinger, Michael R., Mazurek, Henryk, Morgan, Lucy, Nielsen, Kim G., Omran, Heymut, Schwerk, Nicolaus, Scigliano, Sergio, Werner, Claudius, Yiallouros, Panayiotis, Zivkovic, Zorica, Lucas, Jane S., Kuehni, Claudia E.
Publicado no Eur Respir J (2017)

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Por Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam
Publicado no Am J Hum Genet (2018)

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Por Panizzi, Jennifer R., Becker-Heck, Anita, Castleman, Victoria H., Al-Mutairi, Dalal, Liu, Yan, Loges, Niki T., Pathak, Narendra, Austin-Tse, Christina, Sheridan, Eamonn, Schmidts, Miriam, Olbrich, Heike, Werner, Claudius, Häffner, Karsten, Hellman, Nathan, Chodhari, Rahul, Gupta, Amar, Kramer-Zucker, Albrecht, Olale, Felix, Burdine, Rebecca D., Schier, Alexander F., O’Callaghan, Christopher, Chung, Eddie MK, Reinhardt, Richard, Mitchison, Hannah M., King, Stephen M., Omran, Heymut, Drummond, Iain A.
Publicado em 2012

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Por Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut
Publicado em 2013

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study

Por Kouis, Panayiotis, Goutaki, Myrofora, Halbeisen, Florian S., Gioti, Ifigeneia, Middleton, Nicos, Amirav, Israel, Barbato, Angelo, Behan, Laura, Boon, Mieke, Emiralioglu, Nagehan, Haarman, Eric G., Karadag, Bulent, Koerner-Rettberg, Cordula, Lazor, Romain, Loebinger, Michael R., Maitre, Bernard, Mazurek, Henryk, Morgan, Lucy, Nielsen, Kim Gjerum, Omran, Heymut, Özçelik, Ugur, Price, Mareike, Pogorzelski, Andrzej, Snijders, Deborah, Thouvenin, Guillaume, Werner, Claudius, Zivkovic, Zorica, Kuehni, Claudia E., Yiallouros, Panayiotis K.
Publicado no Respir Res (2019)

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

Por Dougherty, Gerard W., Loges, Niki T., Klinkenbusch, Judith A., Olbrich, Heike, Pennekamp, Petra, Menchen, Tabea, Raidt, Johanna, Wallmeier, Julia, Werner, Claudius, Westermann, Cordula, Ruckert, Christian, Mirra, Virginia, Hjeij, Rim, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Praveen, Kavita, Kashef, Mohammad A., Kashef, Sara, Eghtedari, Fardin, Häffner, Karsten, Valmari, Pekka, Baktai, György, Aviram, Micha, Bentur, Lea, Amirav, Israel, Davis, Erica E., Katsanis, Nicholas, Brueckner, Martina, Shaposhnykov, Artem, Pigino, Gaia, Dworniczak, Bernd, Omran, Heymut
Publicado no Am J Respir Cell Mol Biol (2016)

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 no F1000Res (2016)