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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
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
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 (01.12.2022)
Published in The journal of clinical endocrinology and metabolism (01.12.2022)
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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
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
Cardiac Outcomes in Adults With Mitochondrial Diseases
Savvatis, Konstantinos, Vissing, Christoffer Rasmus, Klouvi, Lori, Florian, Anca, Rahman, Mehjabin, Béhin, Anthony, Fayssoil, Abdallah, Masingue, Marion, Stojkovic, Tanya, Bécane, Henri Marc, Berber, Nawal, Mochel, Fanny, Duboc, Denis, Fontaine, Bertrand, Krett, Bjørg, Stalens, Caroline, Lejeune, Julie, Pitceathly, Robert D.S., Lopes, Luis, Saadi, Malika, Gossios, Thomas, Procaccio, Vincent, Spinazzi, Marco, Tard, Céline, De Groote, Pascal, Dhaenens, Claire-Marie, Douillard, Claire, Echaniz-Laguna, Andoni, Quinlivan, Ros, Hanna, Michael G., Yilmaz, Ali, Vissing, John, Laforêt, Pascal, Elliott, Perry, Wahbi, Karim
Published in Journal of the American College of Cardiology (11.10.2022)
Published in Journal of the American College of Cardiology (11.10.2022)
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Journal Article
Better translation via collaboration: The MRC National Mouse Genetics Network
Sansom, Owen, Wells, Sara, Kent, David, Wood, Andrew, Pitceathly, Robert D.S., Isles, Anthony, Liu, Karen, Twigg, Stephen, Blyth, Karen, Chesler, Louis
Published in Cell genomics (14.02.2024)
Published in Cell genomics (14.02.2024)
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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
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
Ng, Yi Shiau, Lax, Nichola Z., Maddison, Paul, Alston, Charlotte L., Blakely, Emma L., Hepplewhite, Philippa D., Riordan, Gillian, Meldau, Surita, Chinnery, Patrick F., Pierre, Germaine, Chronopoulou, Efstathia, Du, Ailian, Hughes, Imelda, Morris, Andrew A., Kamakari, Smaragda, Chrousos, Georgia, Rodenburg, Richard J., Saris, Christiaan G.J., Feeney, Catherine, Hardy, Steven A., Sakakibara, Takafumi, Sudo, Akira, Okazaki, Yasushi, Murayama, Kei, Mundy, Helen, Hanna, Michael G., Ohtake, Akira, Schaefer, Andrew M., Champion, Mike P., Turnbull, Doug M., Taylor, Robert W., Pitceathly, Robert D.S., McFarland, Robert, Gorman, Gráinne S.
Published in EBioMedicine (01.04.2018)
Published in EBioMedicine (01.04.2018)
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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
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
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
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
The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study
Kilmer, Jennifer, Ransley, George, Murphy, Elaine, Hanna, Michael G., Pitceathly, Robert D. S., Rajakulendran, Sanjeev, Pizzamiglio, Chiara
Published in European journal of neurology (01.06.2025)
Published in European journal of neurology (01.06.2025)
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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
Inhibition of the PI3K-AKT-MTORC1 axis reduces the burden of the m.3243A>G mtDNA mutation by promoting mitophagy and improving mitochondrial function
Chung, Chih-Yao, Singh, Kritarth, Sheshadri, Preethi, Valdebenito, Gabriel E, Chacko, Anitta R., Costa Besada, María Alicia, Liang, Xiao Fei, Kabir, Lida, Pitceathly, Robert D. S., Szabadkai, Gyorgy, Duchen, Michael R.
Published in Autophagy (03.04.2025)
Published in Autophagy (03.04.2025)
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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
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