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

Yazar: 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
Baskı/Yayın Bilgisi 2023

Axonemal structures reveal mechanoregulatory and disease mechanisms

Yazar: 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
Baskı/Yayın Bilgisi 2023

CFAP300 mutation causing primary ciliary dyskinesia in Finland

Yazar: 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.
Baskı/Yayın Bilgisi 2022

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

Yazar: 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
Baskı/Yayın Bilgisi 2021

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

Yazar: 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.
Baskı/Yayın Bilgisi 2023

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

Yazar: 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
Baskı/Yayın Bilgisi 2023

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

Yazar: 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.
Baskı/Yayın Bilgisi 2017

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

Yazar: 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
Baskı/Yayın Bilgisi 2023