NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Published in Cell reports (Cambridge) (27.06.2013)
Published in Cell reports (Cambridge) (27.06.2013)
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Journal Article
NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease
Pitceathly, Robert D.S., Rahman, Shamima, Wedatilake, Yehani, Polke, James M., Cirak, Sebahattin, Foley, A. Reghan, Sailer, Anna, Hurles, Matthew E., Stalker, Jim, Hargreaves, Iain, Woodward, Cathy E., Sweeney, Mary G., Muntoni, Francesco, Houlden, Henry, Taanman, Jan-Willem, Hanna, Michael G.
Published in Cell reports (Cambridge) (25.07.2013)
Published in Cell reports (Cambridge) (25.07.2013)
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Journal Article
Chronic pain is common in mitochondrial disease
van den Ameele, Jelle, Fuge, Joshua, Pitceathly, Robert D.S., Berry, Sarah, McIntyre, Zoe, Hanna, Michael G., Lee, Michael, Chinnery, Patrick F.
Published in Neuromuscular disorders : NMD (01.05.2020)
Published in Neuromuscular disorders : NMD (01.05.2020)
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Journal Article
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights
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, Kline, Brianna L, Ayers, Katie L, Stewart, Phoebe N, Stroud, David A, Stojanovski, Diana, Sinclair, Andrew H
Published in The journal of clinical endocrinology and metabolism (25.11.2022)
Published in The journal of clinical endocrinology and metabolism (25.11.2022)
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Journal Article
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies
Scalco, Renata Siciliani, Gardiner, Alice R, Pitceathly, Robert D.S, Hilton-Jones, David, Schapira, Anthony H, Turner, Chris, Parton, Matt, Desikan, Mahalekshmi, Barresi, Rita, Marsh, Julie, Manzur, Adnan Y, Childs, Anne-Marie, Feng, Lucy, Murphy, Elaine, Lamont, Phillipa J, Ravenscroft, Gianina, Wallefeld, William, Davis, Mark R, Laing, Nigel G, Holton, Janice L, Fialho, Doreen, Bushby, Kate, Hanna, Michael G, Phadke, Rahul, Jungbluth, Heinz, Houlden, Henry, Quinlivan, Ros
Published in Neuromuscular disorders : NMD (01.08.2016)
Published in Neuromuscular disorders : NMD (01.08.2016)
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Journal Article
Cardiolipin, Mitochondria, and Neurological Disease
Falabella, Micol, Vernon, Hilary J., Hanna, Michael G., Claypool, Steven M., Pitceathly, Robert D.S.
Published in Trends in endocrinology and metabolism (01.04.2021)
Published in Trends in endocrinology and metabolism (01.04.2021)
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Journal Article
NDUFA4 (Renamed COXFA4) Is a Cytochrome-c Oxidase Subunit
Pitceathly, Robert D.S., Taanman, Jan-Willem
Published in Trends in endocrinology and metabolism (01.07.2018)
Published in Trends in endocrinology and metabolism (01.07.2018)
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Journal Article
Two respiratory chain organizations with distinct bioenergetic properties coexist in human mitochondria
Fernández-Vizarra, Erika, López-Calcerrada, Sandra, Tzoulis, Charalampos, Pitceathly, Robert D.S., Zeviani, Massimo, Ugalde, Cristina
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2022)
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2022)
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Journal Article
Moving towards clinical trials for mitochondrial diseases
Pitceathly, Robert D.S., Keshavan, Nandaki, Rahman, Joyeeta, Rahman, Shamima
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
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Journal Article
Applying genomic and transcriptomic advances to mitochondrial medicine
Macken, William L., Vandrovcova, Jana, Hanna, Michael G., Pitceathly, Robert D. S.
Published in Nature reviews. Neurology (01.04.2021)
Published in Nature reviews. Neurology (01.04.2021)
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Journal Article
Primary mitochondrial diseases
Pizzamiglio, Chiara, Hanna, Michael G., Pitceathly, Robert D.S.
Published in Handbook of Clinical Neurology (2024)
Published in Handbook of Clinical Neurology (2024)
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Book Chapter
Journal Article
Haploinsufficiency of progranulin causes mitochondrial dysfunction
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.
Published in Alzheimer's & dementia (01.12.2023)
Published in Alzheimer's & dementia (01.12.2023)
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Journal Article
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch
Fernández-Vizarra, Erika, López-Calcerrada, Sandra, Sierra-Magro, Ana, Pérez-Pérez, Rafael, Formosa, Luke E., Hock, Daniella H., Illescas, María, Peñas, Ana, Brischigliaro, Michele, Ding, Shujing, Fearnley, Ian M., Tzoulis, Charalampos, Pitceathly, Robert D.S., Arenas, Joaquín, Martín, Miguel A., Stroud, David A., Zeviani, Massimo, Ryan, Michael T., Ugalde, Cristina
Published in Cell metabolism (01.11.2022)
Published in Cell metabolism (01.11.2022)
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Journal Article
The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation—implications for diagnosis and management
Nesbitt, Victoria, Pitceathly, Robert D S, Turnbull, Doug M, Taylor, Robert W, Sweeney, Mary G, Mudanohwo, Ese E, Rahman, Shamima, Hanna, Michael G, McFarland, Robert
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2013)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2013)
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Journal Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease
Ng, Yi Shiau, Lax, Nichola Z, Blain, Alasdair P, Erskine, Daniel, Baker, Mark R, Polvikoski, Tuomo, Thomas, Rhys H, Morris, Christopher M, Lai, Ming, Whittaker, Roger G, Gebbels, Alasdair, Winder, Amy, Hall, Julie, Feeney, Catherine, Farrugia, Maria Elena, Hirst, Claire, Roberts, Mark, Lawthom, Charlotte, Chrysostomou, Alexia, Murphy, Kevin, Baird, Tracey, Maddison, Paul, Duncan, Callum, Poulton, Joanna, Nesbitt, Victoria, Hanna, Michael G, Pitceathly, Robert D S, Taylor, Robert W, Blakely, Emma L, Schaefer, Andrew M, Turnbull, Doug M, McFarland, Robert, Gorman, Gráinne S
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
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Journal Article
Mutant TRIAP1 causes impaired mitochondrial bioenergetics and myopathy
Falabella, Micol, Tabara, Luis Carlos, Poole, Olivia V., Tatsuta, Takashi, Lu, Shanti, Woodward, Cathy E., Labrum, Robyn, Hewamadduma, Channa, Fernandez-Vizarra, Erika, Langer, Thomas, Taanman, Jan-Willem, Hanna, Michael G., Prudent, Julien, Spinazzola, Antonella, Pitceathly, Robert D.S.
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2022)
Published in Biochimica et biophysica acta. Bioenergetics (01.09.2022)
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Journal Article