Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

by Gabrielle Wheway, Hannah M. Mitchison
Published 2019-03-01

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

by Gabrielle Wheway, Hannah M. Mitchison, Genomics England Research Consortium
Published 2019-08-01

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

by Lotta Parviainen, Sybille Dihanich, Greg W. Anderson, Andrew M. Wong, Helen R. Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon J. Heales, Hannah M. Mitchison, Brenda P. Williams, Jonathan D. Cooper
Published 2017-10-01

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

by Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum
Published 2000-04-01

Targeted Disruption of the Cln3 Gene Provides a Mouse Model for Batten Disease

by Hannah M. Mitchison, David J. Bernard, Nicholas D.E. Greene, Jonathan D. Cooper, Mohammed A. Junaid, Raju K. Pullarkat, Nanneke de Vos, Martijn H. Breuning, Jennie W. Owens, William C. Mobley, R.Mark Gardiner, Brian D. Lake, Peter E.M. Taschner, Robert L. Nussbaum
Published 1999-10-01

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

by Laura E. Gardner, Katie L. Horton, Amelia Shoemark, Jane S. Lucas, Kim G. Nielsen, Helene Kobbernagel, Bruna Rubbo, Robert A. Hirst, Panayiotis Kouis, Nicola Ullmann, Ana Reula, Nisreen Rumman, Hannah M. Mitchison, Andreia Pinto, Charlotte Richardson, Anne Schmidt, James Thompson, René Gaupmann, Maciej Dabrowski, Pleasantine Mill, Siobhan B. Carr, Dominic P. Norris, Claudia E. Kuehni, Myrofora Goutaki, Claire Hogg
Published 2020-06-01

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

by Christine P Diggle, Daniel J Moore, Girish Mali, Petra zur Lage, Aouatef Ait-Lounis, Miriam Schmidts, Amelia Shoemark, Amaya Garcia Munoz, Mihail R Halachev, Philippe Gautier, Patricia L Yeyati, David T Bonthron, Ian M Carr, Bruce Hayward, Alexander F Markham, Jilly E Hope, Alex von Kriegsheim, Hannah M Mitchison, Ian J Jackson, Bénédicte Durand, Walter Reith, Eamonn Sheridan, Andrew P Jarman, Pleasantine Mill
Published 2014-09-01

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism

by Wai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, Haibing Yue, Jacob Shujui Hsu, Patrick Ho-Yu Chung, John M. Nicholls, Fanny Yeung, Chun-Wai Davy Lee, Diem Ngoc Ngo, Pham Anh Hoa Nguyen, Hannah M. Mitchison, Dagan Jenkins, Christopher O'Callaghan, Maria-Mercè Garcia-Barceló, So-Lun Lee, Pak-Chung Sham, Vincent Chi-Hang Lui, Paul Kwong-Hang Tam
Published 2021-09-01

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

by Miriam Schmidts, Yuqing Hou, Claudio R. Cortés, Dorus A. Mans, Celine Huber, Karsten Boldt, Mitali Patel, Jeroen van Reeuwijk, Jean-Marc Plaza, Sylvia E. C. van Beersum, Zhi Min Yap, Stef J. F. Letteboer, S. Paige Taylor, Warren Herridge, Colin A. Johnson, Peter J. Scambler, Marius Ueffing, Hulya Kayserili, Deborah Krakow, Stephen M. King, UK10K, Philip L. Beales, Lihadh Al-Gazali, Carol Wicking, Valerie Cormier-Daire, Ronald Roepman, Hannah M. Mitchison, George B. Witman
Published 2016-03-01

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

by Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison
Published 2017-02-01