Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

Tekijä Fassad, Mahmoud R, Rumman, Nisreen, Junger, Katrin, Patel, Mitali P, Thompson, James, Goggin, Patricia, Ueffing, Marius, Beyer, Tina, Boldt, Karsten, Lucas, Jane S, Mitchison, Hannah M
Julkaistu 2023

Axonemal structures reveal mechanoregulatory and disease mechanisms

Tekijä Walton, Travis, Gui, Miao, Velkova, Simona, Fassad, Mahmoud R., Hirst, Robert A., Haarman, Eric, O’Callaghan, Christopher, Bottier, Mathieu, Burgoyne, Thomas, Mitchison, Hannah M., Brown, Alan
Julkaistu 2023

CFAP300 mutation causing primary ciliary dyskinesia in Finland

Tekijä Schultz, Rüdiger, Elenius, Varpu, Fassad, Mahmoud R., Freke, Grace, Rogers, Andrew, Shoemark, Amelia, Koistinen, Tiina, Mohamed, Mai A., Lim, Jacqueline S. Y., Mitchison, Hannah M., Sironen, Anu I.
Julkaistu 2022

Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia

Tekijä Lee, Dani Do Hyang, Cardinale, Daniela, Nigro, Ersilia, Butler, Colin R., Rutman, Andrew, Fassad, Mahmoud R., Hirst, Robert A., Moulding, Dale, Agrotis, Alexander, Forsythe, Elisabeth, Peckham, Daniel, Robson, Evie, Smith, Claire M., Somavarapu, Satyanarayana, Beales, Philip L., Hart, Stephen L., Janes, Sam M., Mitchison, Hannah M., Ketteler, Robin, Hynds, Robert E., O'Callaghan, Christopher
Julkaistu 2021

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

Tekijä Rumman, Nisreen, Fassad, Mahmoud R., Driessens, Corine, Goggin, Patricia, Abdelrahman, Nader, Adwan, Adel, Albakri, Mutaz, Chopra, Jagrati, Doherty, Regan, Fashho, Bishara, Freke, Grace M., Hasaballah, Abdallah, Jackson, Claire L., Mohamed, Mai A., Abu Nema, Reda, Patel, Mitali P., Pengelly, Reuben J., Qaaqour, Ahmad, Rubbo, Bruna, Thomas, N. Simon, Thompson, James, Walker, Woolf T., Wheway, Gabrielle, Mitchison, Hannah M., Lucas, Jane S.
Julkaistu 2023

Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability

Tekijä Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, Wolfe, Lynne, Novacic, Danica, Greenbaum, Lior, Eliyahu, Aviva, Barel, Ortal, Anikster, Yair, McFarland, Robert, Gorman, Gráinne S, Schaefer, Andrew M, Gustafsson, Claes M, Taylor, Robert W, Falkenberg, Maria, Nicholls, Thomas J
Julkaistu 2023

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

Tekijä Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Julkaistu 2017

Neuromuscular disease genetics in under-represented populations: increasing data diversity

Tekijä Wilson, Lindsay A, Macken, William L, Perry, Luke D, Record, Christopher J, Schon, Katherine R, Frezatti, Rodrigo S S, Raga, Sharika, Naidu, Kireshnee, Köken, Özlem Yayıcı, Polat, Ipek, Kapapa, Musambo M, Dominik, Natalia, Efthymiou, Stephanie, Morsy, Heba, Nel, Melissa, Fassad, Mahmoud R, Gao, Fei, Patel, Krutik, Schoonen, Maryke, Bisschoff, Michelle, Vorster, Armand, Jonvik, Hallgeir, Human, Ronel, Lubbe, Elsa, Nonyane, Malebo, Vengalil, Seena, Nashi, Saraswati, Srivastava, Kosha, Lemmers, Richard J L F, Reyaz, Alisha, Mishra, Rinkle, Töpf, Ana, Trainor, Christina I, Steyn, Elizabeth C, Mahungu, Amokelani C, van der Vliet, Patrick J, Ceylan, Ahmet Cevdet, Hiz, A Semra, Çavdarlı, Büşranur, Semerci Gündüz, C Nur, Ceylan, Gülay Güleç, Nagappa, Madhu, Tallapaka, Karthik B, Govindaraj, Periyasamy, van der Maarel, Silvère M, Narayanappa, Gayathri, Nandeesh, Bevinahalli N, Wa Somwe, Somwe, Bearden, David R, Kvalsund, Michelle P, Ramdharry, Gita M, Oktay, Yavuz, Yiş, Uluç, Topaloğlu, Haluk, Sarkozy, Anna, Bugiardini, Enrico, Henning, Franclo, Wilmshurst, Jo M, Heckmann, Jeannine M, McFarland, Robert, Taylor, Robert W, Smuts, Izelle, van der Westhuizen, Francois H, Sobreira, Claudia Ferreira da Rosa, Tomaselli, Pedro J, Marques, Wilson, Bhatia, Rohit, Dalal, Ashwin, Srivastava, M V Padma, Yareeda, Sireesha, Nalini, Atchayaram, Vishnu, Venugopalan Y, Thangaraj, Kumarasamy, Straub, Volker, Horvath, Rita, Chinnery, Patrick F, Pitceathly, Robert D S, Muntoni, Francesco, Houlden, Henry, Vandrovcova, Jana, Reilly, Mary M, Hanna, Michael G
Julkaistu 2023