Hasil Pencarian - Robert D.S. Pitceathly

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  1. 1
    Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports

    Delayed diagnoses of mitochondrial cytopathies in patients presenting with end stage kidney disease: two case reports oleh Tayeba Roper, Mark Harber, Gareth Jones, Robert D. S. Pitceathly, Alan D. Salama

    Diterbitkan 2020-08-01
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  2. 2
    Acceptability of Audiovestibular Assessment in the Home—A Patient Survey

    Acceptability of Audiovestibular Assessment in the Home—A Patient Survey oleh Amanda J. Male, Nehzat Koohi, Sarah L. Holmes, Robert D. S. Pitceathly, Diego Kaski

    Diterbitkan 2024-06-01
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  3. 3
    Consensus-based statements for the management of mitochondrial stroke-like episodes [version 1; peer review: 2 approved]

    Consensus-based statements for the management of mitochondrial stroke-like episodes [version 1; peer review: 2 approved] oleh Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, Rita Horvath, Thomas Klopstock, Michelangelo Mancuso, Mika H. Martikainen, Robert Mcfarland, Victoria Nesbitt, Robert D. S. Pitceathly, Andrew M. Schaefer, Doug M. Turnbull

    Diterbitkan 2019-12-01
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  4. 4
    Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

    Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation oleh Chih-Yao Chung, Kritarth Singh, Vassilios N. Kotiadis, Gabriel E. Valdebenito, Jee Hwan Ahn, Emilie Topley, Joycelyn Tan, William D. Andrews, Benoit Bilanges, Robert D. S. Pitceathly, Gyorgy Szabadkai, Mariia Yuneva, Michael R. Duchen

    Diterbitkan 2021-11-01
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  5. 5
    A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

    A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease. oleh Sanjeev Rajakulendran, Robert D S Pitceathly, Jan-Willem Taanman, Harry Costello, Mary G Sweeney, Cathy E Woodward, Zane Jaunmuktane, Janice L Holton, Thomas S Jacques, Brian N Harding, Carl Fratter, Michael G Hanna, Shamima Rahman

    Diterbitkan 2016-01-01
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  6. 6
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease oleh Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna

    Diterbitkan 2013-06-01
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  7. 7
    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

    NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease oleh Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna

    Diterbitkan 2013-07-01
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  8. 8
    2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA

    2-Deoxy-D-glucose couples mitochondrial DNA replication with mitochondrial fitness and promotes the selection of wild-type over mutant mitochondrial DNA oleh Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-mai Julie Dang, Lodovica Vergani, Iain G. Johnston, Robert D. S. Pitceathly, Robert McFarland, Michael G. Hanna, Robert W. Taylor, Ian J. Holt, Antonella Spinazzola

    Diterbitkan 2021-12-01
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  9. 9
    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing

    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing oleh William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly

    Diterbitkan 2022-11-01
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  10. 10
    MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

    MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load oleh Yi Shiau Ng, Nichola Z. Lax, Paul Maddison, Charlotte L. Alston, Emma L. Blakely, Philippa D. Hepplewhite, Gillian Riordan, Surita Meldau, Patrick F. Chinnery, Germaine Pierre, Efstathia Chronopoulou, Ailian Du, Imelda Hughes, Andrew A. Morris, Smaragda Kamakari, Georgia Chrousos, Richard J. Rodenburg, Christiaan G.J. Saris, Catherine Feeney, Steven A. Hardy, Takafumi Sakakibara, Akira Sudo, Yasushi Okazaki, Kei Murayama, Helen Mundy, Michael G. Hanna, Akira Ohtake, Andrew M. Schaefer, Mike P. Champion, Doug M. Turnbull, Robert W. Taylor, Robert D.S. Pitceathly, Robert McFarland, Gráinne S. Gorman

    Diterbitkan 2018-04-01
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