Works by Pitceathly, Robert D. S.

Results: 39
    1

    Activating AMPK improves pathological phenotypes due to mtDNA depletion.

    Published in:
    FEBS Journal, 2025, v. 292, n. 9, p. 2359, doi. 10.1111/febs.70006
    By:
    • Carvalho, Gustavo;
    • Nguyen, Tran V. H.;
    • Repolês, Bruno;
    • Forslund, Josefin M. E.;
    • Wijethunga, W. M. Ruchitha Rukmal;
    • Ranjbarian, Farahnaz;
    • Mendes, Isabela C.;
    • Gorospe, Choco Michael;
    • Chaudhari, Namrata;
    • Falabella, Micol;
    • Doimo, Mara;
    • Wanrooij, Sjoerd;
    • Pitceathly, Robert D. S.;
    • Hofer, Anders;
    • Wanrooij, Paulina H.
    Publication type:
    Article
    2

    Extra-ocular muscle MRI in genetically-defined mitochondrial disease.

    Published in:
    2016
    By:
    • Pitceathly, Robert;
    • Morrow, Jasper;
    • Sinclair, Christopher;
    • Woodward, Cathy;
    • Sweeney, Mary;
    • Rahman, Shamima;
    • Plant, Gordon;
    • Ali, Nadeem;
    • Bremner, Fion;
    • Davagnanam, Indran;
    • Yousry, Tarek;
    • Hanna, Michael;
    • Thornton, John;
    • Pitceathly, Robert D S;
    • Morrow, Jasper M;
    • Sinclair, Christopher D J;
    • Sweeney, Mary G;
    • Plant, Gordon T;
    • Yousry, Tarek A;
    • Hanna, Michael G
    Publication type:
    journal article
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    COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
    By:
    • Pitceathly, Robert D. S.;
    • Taanman, Jan-Willem;
    • Rahman, Shamima;
    • Meunier, Brigitte;
    • Sadowski, Michael;
    • Cirak, Sebahattin;
    • Hargreaves, Iain;
    • Land, John M.;
    • Nanji, Tina;
    • Polke, James M.;
    • Woodward, Cathy E.;
    • Sweeney, Mary G.;
    • Solanki, Shyam;
    • Foley, A. Reghan;
    • Hurles, Matthew E.;
    • Stalker, Jim;
    • Blake, Julian;
    • Holton, Janice L.;
    • Phadke, Rahul;
    • Muntoni, Francesco
    Publication type:
    Article
    7

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

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26829-0
    By:
    • Pantic, Boris;
    • Ives, Daniel;
    • Mennuni, Mara;
    • Perez-Rodriguez, Diego;
    • Fernandez-Pelayo, Uxoa;
    • Lopez de Arbina, Amaia;
    • Muñoz-Oreja, Mikel;
    • Villar-Fernandez, Marina;
    • Dang, Thanh-mai Julie;
    • Vergani, Lodovica;
    • Johnston, Iain G.;
    • Pitceathly, Robert D. S.;
    • McFarland, Robert;
    • Hanna, Michael G.;
    • Taylor, Robert W.;
    • Holt, Ian J.;
    • Spinazzola, Antonella
    Publication type:
    Article
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    Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 2, p. 399, doi. 10.1111/ene.15613
    By:
    • Pizzamiglio, Chiara;
    • Pitceathly, Robert D. S.;
    • Lunn, Michael P.;
    • Brady, Stefen;
    • De Marchi, Fabiola;
    • Galan, Lucia;
    • Heckmann, Jeannine M.;
    • Horga, Alejandro;
    • Molnar, Maria J.;
    • Oliveira, Acary S. B.;
    • Pinto, Wladimir B. V. R.;
    • Primiano, Guido;
    • Santos, Ernestina;
    • Schoser, Benedikt;
    • Servidei, Serenella;
    • Sgobbi Souza, Paulo V.;
    • Venugopalan, Vishnu;
    • Hanna, Michael G.;
    • Dimachkie, Mazen M.;
    • Machado, Pedro M.
    Publication type:
    Article
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    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

    Published in:
    EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
    By:
    • Hathazi, Denisa;
    • Griffin, Helen;
    • Jennings, Matthew J;
    • Giunta, Michele;
    • Powell, Christopher;
    • Pearce, Sarah F;
    • Munro, Benjamin;
    • Wei, Wei;
    • Boczonadi, Veronika;
    • Poulton, Joanna;
    • Pyle, Angela;
    • Calabrese, Claudia;
    • Gomez‐Duran, Aurora;
    • Schara, Ulrike;
    • Pitceathly, Robert D S;
    • Hanna, Michael G;
    • Joost, Kairit;
    • Cotta, Ana;
    • Paim, Julia Filardi;
    • Navarro, Monica Machado
    Publication type:
    Article
    21

    Use of Twitter in Neurology: Boon or Bane?

    Published in:
    2021
    By:
    • Mishra, Biswamohan;
    • Saini, Monica;
    • Doherty, Carolynne M;
    • Pitceathly, Robert D S;
    • Rajan, Roopa;
    • Siddiqi, Omar K;
    • Ramdharry, Gita;
    • Asranna, Ajay;
    • Tomaselli, Pedro Jose;
    • Kermode, Allan G;
    • Bajwa, Jawad A;
    • Garg, Divyani;
    • Vishnu, Venugopalan Y
    Publication type:
    journal article
    22

    Rhabdomyolysis: a genetic perspective.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0264-3
    By:
    • Scalco, Renata Siciliani;
    • Gardiner, Alice R.;
    • Pitceathly, Robert D. S.;
    • Zanoteli, Edmar;
    • Becker, Jefferson;
    • Holton, Janice L.;
    • Houlden, Henry;
    • Jungbluth, Heinz;
    • Quinlivan, Ros
    Publication type:
    Article
    23

    Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
    By:
    • Bindoff, Laurence A.;
    • Brown, David A.;
    • Gorman, Gráinne S.;
    • Karaa, Amel;
    • Keshavan, Nandaki;
    • Lamperti, Constanza;
    • Mancuso, Michelangelo;
    • McFarland, Robert;
    • Ng, Yi Shiau;
    • O'Callaghan, Mar;
    • Pitceathly, Robert D. S.;
    • Rahman, Shamima;
    • Russel, Frans G. M.;
    • Schirris, Tom J. J.;
    • Varhaug, Kristin N.;
    • De Vries, Maaike C.
    Publication type:
    Article
    24

    Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
    By:
    • De Vries, Maaike C.;
    • Brown, David A.;
    • Allen, Mitchell E.;
    • Bindoff, Laurence;
    • Gorman, Gráinne S.;
    • Karaa, Amel;
    • Keshavan, Nandaki;
    • Lamperti, Costanza;
    • McFarland, Robert;
    • Ng, Yi Shiau;
    • O'Callaghan, Mar;
    • Pitceathly, Robert D. S.;
    • Rahman, Shamima;
    • Russel, Frans G. M.;
    • Varhaug, Kristin N.;
    • Schirris, Tom J. J.;
    • Mancuso, Michelangelo
    Publication type:
    Article
    25

    Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

    Published in:
    Human Genetics, 2019, v. 138, n. 11/12, p. 1313, doi. 10.1007/s00439-019-02075-9
    By:
    • Horga, Alejandro;
    • Woodward, Catherine E.;
    • Mills, Alberto;
    • Pareés, Isabel;
    • Hargreaves, Iain P.;
    • Brown, Ruth M.;
    • Bugiardini, Enrico;
    • Brooks, Tony;
    • Manole, Andreea;
    • Remzova, Elena;
    • Rahman, Shamima;
    • Reilly, Mary M.;
    • Houlden, Henry;
    • Sweeney, Mary G.;
    • Brown, Garry K.;
    • Polke, James M.;
    • Gago, Federico;
    • Parton, Matthew J.;
    • Pitceathly, Robert D. S.;
    • Hanna, Michael G.
    Publication type:
    Article
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    De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2732, doi. 10.1093/brain/awae160
    By:
    • Harel, Tamar;
    • Spicher, Camille;
    • Scheer, Elisabeth;
    • Buchan, Jillian G;
    • Cech, Jennifer;
    • Folland, Chiara;
    • Frey, Tanja;
    • Holtz, Alexander M;
    • Innes, A Micheil;
    • Keren, Boris;
    • Macken, William L;
    • Marcelis, Carlo;
    • Otten, Catherine E;
    • Paolucci, Sarah A;
    • Petit, Florence;
    • Pfundt, Rolph;
    • Pitceathly, Robert D S;
    • Rauch, Anita;
    • Ravenscroft, Gianina;
    • Sanchev, Rani
    Publication type:
    Article
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    Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3392, doi. 10.1093/brain/aws231
    By:
    • Pitceathly, Robert D. S.;
    • Smith, Conrad;
    • Fratter, Carl;
    • Alston, Charlotte L.;
    • He, Langping;
    • Craig, Kate;
    • Blakely, Emma L.;
    • Evans, Julie C.;
    • Taylor, John;
    • Shabbir, Zarfishan;
    • Deschauer, Marcus;
    • Pohl, Ute;
    • Roberts, Mark E.;
    • Jackson, Matthew C.;
    • Halfpenny, Christopher A.;
    • Turnpenny, Peter D.;
    • Lunt, Peter W.;
    • Hanna, Michael G.;
    • Schaefer, Andrew M.;
    • McFarland, Robert
    Publication type:
    Article
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    Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

    Published in:
    Molecular Biology Reports, 2021, v. 48, n. 3, p. 2093, doi. 10.1007/s11033-021-06188-1
    By:
    • Horga, Alejandro;
    • Manole, Andreea;
    • Mitchell, Alice L.;
    • Bugiardini, Enrico;
    • Hargreaves, Iain P.;
    • Mowafi, Walied;
    • Bettencourt, Conceição;
    • Blakely, Emma L.;
    • He, Langping;
    • Polke, James M.;
    • Woodward, Catherine E.;
    • Dalla Rosa, Ilaria;
    • Shah, Sachit;
    • Pittman, Alan M.;
    • Quinlivan, Ros;
    • Reilly, Mary M.;
    • Taylor, Robert W.;
    • Holt, Ian J.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D. S.
    Publication type:
    Article
    32

    Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03421-5
    By:
    • Karaa, Amel;
    • Bertini, Enrico;
    • Carelli, Valerio;
    • Cohen, Bruce;
    • Ennes, Gregory M.;
    • Falk, Marni J.;
    • Goldstein, Amy;
    • Gorman, Gráinne;
    • Haas, Richard;
    • Hirano, Michio;
    • Klopstock, Thomas;
    • Koenig, Mary Kay;
    • Kornblum, Cornelia;
    • Lamperti, Costanza;
    • Lehman, Anna;
    • Longo, Nicola;
    • Molnar, Maria Judit;
    • Parikh, Sumit;
    • Phan, Han;
    • Pitceathly, Robert D. S.
    Publication type:
    Article
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    Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country.

    Published in:
    Brain Communications, 2024, v. 6, n. 6, p. 1, doi. 10.1093/braincomms/fcae342
    By:
    • Frezatti, Rodrigo Siqueira Soares;
    • Tomaselli, Pedro José;
    • Record, Christopher J;
    • Wilson, Lindsay A;
    • Alves, Gustavo Maximiano;
    • Dominik, Natalia;
    • Efthymiou, Stephanie;
    • Patel, Krutik;
    • Vandrovcova, Jana;
    • Männikkö, Roope;
    • Pitceathly, Robert D S;
    • Sobreira, Claudia Ferreira da Rosa;
    • McFarland, Robert;
    • Taylor, Robert W;
    • Houlden, Henry;
    • Hanna, Michael G;
    • Reilly, Mary M;
    • Marques, Wilson
    Publication type:
    Article
    35

    Haploinsufficiency of progranulin causes mitochondrial dysfunction.

    Published in:
    Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.070907
    By:
    • Bautista, Javier S.;
    • Falabella, Micol;
    • Lu, Shanti;
    • Rohrer, Jonathan D.;
    • Plun‐Favreau, Helene;
    • Wray, Selina;
    • Taanman, Jan‐Willam;
    • Pitceathly, Robert D. S.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
    36
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    MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093
    By:
    • Bugiardini, Enrico;
    • Mitchell, Alice L;
    • Rosa, Ilaria Dalla;
    • Horning-Do, Hue-Tran;
    • Pitmann, Alan M;
    • Poole, Olivia V;
    • Holton, Janice L;
    • Shah, Sachit;
    • Woodward, Cathy;
    • Hargreaves, Iain;
    • Quinlivan, Rosaline;
    • Amunts, Alexey;
    • Wiesner, Rudolf J;
    • Houlden, Henry;
    • Holt, Ian J;
    • Hanna, Michael G;
    • Pitceathly, Robert D S;
    • Spinazzola, Antonella
    Publication type:
    Article
    38

    The urinary proteome and metabonome differ from normal in adults with mitochondrial disease.

    Published in:
    Kidney International, 2015, v. 87, n. 3, p. 610, doi. 10.1038/ki.2014.297
    By:
    • Hall, Andrew M;
    • Vilasi, Annalisa;
    • Garcia-Perez, Isabel;
    • Lapsley, Marta;
    • Alston, Charlotte L;
    • Pitceathly, Robert D S;
    • McFarland, Robert;
    • Schaefer, Andrew M;
    • Turnbull, Doug M;
    • Beaumont, Nick J;
    • Hsuan, Justin J;
    • Cutillas, Pedro R;
    • Lindon, John C;
    • Holmes, Elaine;
    • Unwin, Robert J;
    • Taylor, Robert W;
    • Gorman, Grainne S;
    • Rahman, Shamima;
    • Hanna, Michael G
    Publication type:
    Article
    39

    Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.

    Published in:
    Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 12, p. 3328, doi. 10.1210/clinem/dgac528
    By:
    • Tucker, Elena J.;
    • Baker, Megan J.;
    • Hock, Daniella H.;
    • Warren, Julia T.;
    • Jaillard, Sylvie;
    • Bell, Katrina M.;
    • Sreenivasan, Rajini;
    • Bakhshalizadeh, Shabnam;
    • Hanna, Chloe A.;
    • Caruana, Nikeisha J.;
    • Wortmann, Saskia B.;
    • Rahman, Shamima;
    • Pitceathly, Robert D. S.;
    • Donadieu, Jean;
    • Alimi, Aurelia;
    • Launay, Vincent;
    • Coppo, Paul;
    • Christin-Maitre, Sophie;
    • Robevska, Gorjana;
    • van den Bergen, Jocelyn
    Publication type:
    Article