Hasil Pencarian - David R Thorburn

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  1. 1
    Mitochondrial biology and dysfunction in secondary mitochondrial disease

    Mitochondrial biology and dysfunction in secondary mitochondrial disease oleh Megan J. Baker, Jordan J. Crameri, David R. Thorburn, Ann E. Frazier, Diana Stojanovski

    Diterbitkan 2022-12-01
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  2. 2
    Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

    Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned? oleh Cameron L. McKnight, Yau Chung Low, David A. Elliott, David R. Thorburn, Ann E. Frazier

    Diterbitkan 2021-07-01
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  3. 3
    Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant

    Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant oleh Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson

    Diterbitkan 2022-11-01
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  4. 4
    Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

    Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. oleh Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou

    Diterbitkan 2017-01-01
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  5. 5
    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

    Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. oleh David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft

    Diterbitkan 2014-01-01
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  6. 6
    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

    Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder oleh 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

    Diterbitkan 2022-09-01
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  7. 7
    Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes

    Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes oleh Claudia Loetsch, Joanna Warren, Adrienne Laskowski, Rodrigo Vazquez-Lombardi, Christoph Jandl, David B. Langley, Daniel Christ, David R. Thorburn, David K. Ryugo, Jonathan Sprent, Marcel Batten, Cecile King

    Diterbitkan 2017-11-01
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  8. 8
    Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

    Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis oleh Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz

    Diterbitkan 2005-06-01
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  9. 9
    Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease

    Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease oleh Jessie Poquérusse, Melinda Nolan, David R. Thorburn, Johan L. K. Van Hove, Marisa W. Friederich, Donald R. Love, Juliet Taylor, Christopher A. Powell, Michal Minczuk, Russell G. Snell, Klaus Lehnert, Emma Glamuzina, Jessie C. Jacobsen

    Diterbitkan 2023-05-01
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  10. 10
    Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia

    Biallelic <i>IARS2</i> mutations presenting as sideroblastic anemia oleh Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann

    Diterbitkan 2020-12-01
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  11. 11
    Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.

    Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain. oleh Matthew J Bird, Karina Needham, Ann E Frazier, Jorien van Rooijen, Jessie Leung, Shelley Hough, Mark Denham, Matthew E Thornton, Clare L Parish, Bryony A Nayagam, Martin Pera, David R Thorburn, Lachlan H Thompson, Mirella Dottori

    Diterbitkan 2014-01-01
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  12. 12
    Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

    Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome oleh Yilin Kang, Alexander J Anderson, Thomas Daniel Jackson, Catherine S Palmer, David P De Souza, Kenji M Fujihara, Tegan Stait, Ann E Frazier, Nicholas J Clemons, Deidreia Tull, David R Thorburn, Malcolm J McConville, Michael T Ryan, David A Stroud, Diana Stojanovski

    Diterbitkan 2020-03-01
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  13. 13
    Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

    Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome oleh Yilin Kang, Alexander J Anderson, Thomas Daniel Jackson, Catherine S Palmer, David P De Souza, Kenji M Fujihara, Tegan Stait, Ann E Frazier, Nicholas J Clemons, Deidreia Tull, David R Thorburn, Malcolm J McConville, Michael T Ryan, David A Stroud, Diana Stojanovski

    Diterbitkan 2019-11-01
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  14. 14
    Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

    Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies oleh Lauren S. Akesson, Rocio Rius, Natasha J. Brown, Jeremy Rosenbaum, Sarah Donoghue, Michael Stormon, Charmaine Chai, Esmeralda Bordador, Yiran Guo, Hakon Hakonarson, Alison G. Compton, David R. Thorburn, Sumudu Amarasekera, Justine Marum, Alisha Monaco, Crystle Lee, Belinda Chong, Sebastian Lunke, Zornitza Stark, John Christodoulou

    Diterbitkan 2022-05-01
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  15. 15
    High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content

    High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content oleh Cesare Granata, Nikeisha J. Caruana, Javier Botella, Nicholas A. Jamnick, Kevin Huynh, Jujiao Kuang, Hans A. Janssen, Boris Reljic, Natalie A. Mellett, Adrienne Laskowski, Tegan L. Stait, Ann E. Frazier, Melinda T. Coughlan, Peter J. Meikle, David R. Thorburn, David A. Stroud, David J. Bishop

    Diterbitkan 2021-12-01
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  16. 16
    MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

    MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria. oleh Ilaria Dalla Rosa, Yolanda Cámara, Romina Durigon, Chloe F Moss, Sara Vidoni, Gokhan Akman, Lilian Hunt, Mark A Johnson, Sarah Grocott, Liya Wang, David R Thorburn, Michio Hirano, Joanna Poulton, Robert W Taylor, Greg Elgar, Ramon Martí, Peter Voshol, Ian J Holt, Antonella Spinazzola

    Diterbitkan 2016-01-01
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  17. 17
    Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

    Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation oleh Liliya eEuro, Svetlana eKonovalova, Jorge eAsin Cayuela, Már eTulinius, Helen eGriffin, Rita eHorvath, Robert W Taylor, Patrick F Chinnery, Ulrike eSchara, David R Thorburn, Anu eSuomalainen, Anu eSuomalainen, Joseph eChihade, Henna eTyynismaa, Henna eTyynismaa

    Diterbitkan 2015-02-01
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  18. 18
    Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

    Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. oleh Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn

    Diterbitkan 2013-01-01
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  19. 19
    Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

    Biallelic Variants in <i>PYROXD2</i> Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function oleh Nicole J. Van Bergen, Daniella H. Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M. Ryan, Colleen D’Arcy, Margot Nash, Sile Smith, Nikeisha J. Caruana, David R. Thorburn, David A. Stroud, Susan M. White, John Christodoulou, Natasha J. Brown

    Diterbitkan 2022-01-01
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  20. 20
    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

    TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease oleh Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

    Diterbitkan 2023-02-01
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