John Christodoulou

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Ethically utilising COVID-19 host-genomic data by Christopher Gyngell, John Christodoulou, Julian Savulescu
Published 2021-05-01
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High-resolution ex vivo NMR spectroscopy of human Z α1-antitrypsin by Alistair M. Jagger, Christopher A. Waudby, James A. Irving, John Christodoulou, David A. Lomas
Published 2020-12-01
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The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis by Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite, John Christodoulou
Published 2021-07-01
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In-cell NMR characterization of the secondary structure populations of a disordered conformation of α-synuclein within E. coli cells. by Christopher A Waudby, Carlo Camilloni, Anthony W P Fitzpatrick, Lisa D Cabrita, Christopher M Dobson, Michele Vendruscolo, John Christodoulou
Published 2013-01-01
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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. by Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Published 2017-01-01
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An intrinsic temporal order of c-JUN N-terminal phosphorylation regulates its activity by orchestrating co-factor recruitment by Christopher A. Waudby, Saul Alvarez-Teijeiro, E. Josue Ruiz, Simon Suppinger, Nikos Pinotsis, Paul R. Brown, Axel Behrens, John Christodoulou, Anastasia Mylona
Published 2022-10-01
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Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays by Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott, APSU Rare Diseases Impacts on Families Study group
Published 2017-04-01
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Nascent chains can form co-translational folding intermediates that promote post-translational folding outcomes in a disease-causing protein by Elena Plessa, Lien P. Chu, Sammy H. S. Chan, Oliver L. Thomas, Anaïs M. E. Cassaignau, Christopher A. Waudby, John Christodoulou, Lisa D. Cabrita
Published 2021-11-01
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A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders by Francisco Santos Gonzalez, Daniella H. Hock, David R. Thorburn, Dylan Mordaunt, Nicholas A. Williamson, Ching-Seng Ang, David A. Stroud, John Christodoulou, Ilias Goranitis
Published 2024-11-01
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P534: Piloting an Australian quality assurance program interpretive module for genomic testing by Alicia Byrne, Dimitar Azmanov, Sze Chai, John Christodoulou, Matilda Haas, Karin Kassahn, Ben Lundie, Sebastian Lunke, Ami Stott, Bryony Thompson, Tony Badrick, Bruce Bennetts
Published 2024-01-01
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Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder by Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava
Published 2022-09-01
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Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder by Nicole J. Van Bergen, Sean Massey, Tegan Stait, Molly Ellery, Boris Reljić, Luke E. Formosa, Anita Quigley, Mirella Dottori, David Thorburn, David A. Stroud, John Christodoulou
Published 2021-07-01
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Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder by Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T. Ahrendsen, Matthew P. Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K. Chung
Published 2021-04-01
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