Blood Mononuclear Cell Mitochondrial Respiratory Chain Complex IV Activity is Decreased in Multiple Sclerosis Patients: Effects of β-Interferon Treatment

por Hargreaves, Iain, Mody, Nimesh, Land, John, Heales, Simon
Publicado 2018

Nrf2 impacts cellular bioenergetics by controlling substrate availability for mitochondrial respiration

por Holmström, Kira M., Baird, Liam, Zhang, Ying, Hargreaves, Iain, Chalasani, Annapurna, Land, John M., Stanyer, Lee, Yamamoto, Masayuki, Dinkova-Kostova, Albena T., Abramov, Andrey Y.
Publicado 2013

Uncovering Genomic Causes of Co-Morbidity in Epilepsy: Gene-Driven Phenotypic Characterization of Rare Microdeletions

por Kasperavičiūtė, Dalia, Catarino, Claudia B., Chinthapalli, Krishna, Clayton, Lisa M. S., Thom, Maria, Martinian, Lillian, Cohen, Hannah, Adalat, Shazia, Bockenhauer, Detlef, Pope, Simon A., Lench, Nicholas, Koltzenburg, Martin, Duncan, John S., Hammond, Peter, Hennekam, Raoul C. M., Land, John M., Sisodiya, Sanjay M.
Publicado 2011

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

por Tucci, Arianna, Liu, Yo-Tsen, Preza, Elisabeth, Pitceathly, Robert D S, Chalasani, Annapurna, Plagnol, Vincent, Land, John M, Trabzuni, Daniah, Ryten, Mina, Jaunmuktane, Zane, Reilly, Mary M, Brandner, Sebastian, Hargreaves, Iain, Hardy, John, Singleton, Andrew B, Abramov, Andrey Y, Houlden, Henry
Publicado 2014

SURF1 deficiency: a multi-centre natural history study

por Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima
Publicado 2013

A Mutation in the Mitochondrial Fission Gene Dnm1l Leads to Cardiomyopathy

por Ashrafian, Houman, Docherty, Louise, Leo, Vincenzo, Towlson, Christopher, Neilan, Monica, Steeples, Violetta, Lygate, Craig A., Hough, Tertius, Townsend, Stuart, Williams, Debbie, Wells, Sara, Norris, Dominic, Glyn-Jones, Sarah, Land, John, Barbaric, Ivana, Lalanne, Zuzanne, Denny, Paul, Szumska, Dorota, Bhattacharya, Shoumo, Griffin, Julian L., Hargreaves, Iain, Fernandez-Fuentes, Narcis, Cheeseman, Michael, Watkins, Hugh, Dear, T. Neil
Publicado 2010

Fumarate Is Cardioprotective via Activation of the Nrf2 Antioxidant Pathway

por Ashrafian, Houman, Czibik, Gabor, Bellahcene, Mohamed, Aksentijević, Dunja, Smith, Anthony C., Mitchell, Sarah J., Dodd, Michael S., Kirwan, Jennifer, Byrne, Jonathan J., Ludwig, Christian, Isackson, Henrik, Yavari, Arash, Støttrup, Nicolaj B., Contractor, Hussain, Cahill, Thomas J., Sahgal, Natasha, Ball, Daniel R., Birkler, Rune I.D., Hargreaves, Iain, Tennant, Daniel A., Land, John, Lygate, Craig A., Johannsen, Mogens, Kharbanda, Rajesh K., Neubauer, Stefan, Redwood, Charles, de Cabo, Rafael, Ahmet, Ismayil, Talan, Mark, Günther, Ulrich L., Robinson, Alan J., Viant, Mark R., Pollard, Patrick J., Tyler, Damian J., Watkins, Hugh
Publicado 2012

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

por Foley, A. Reghan, Menezes, Manoj P., Pandraud, Amelie, Gonzalez, Michael A., Al-Odaib, Ahmad, Abrams, Alexander J., Sugano, Kumiko, Yonezawa, Atsushi, Manzur, Adnan Y., Burns, Joshua, Hughes, Imelda, McCullagh, B. Gary, Jungbluth, Heinz, Lim, Ming J., Lin, Jean-Pierre, Megarbane, Andre, Urtizberea, J. Andoni, Shah, Ayaz H., Antony, Jayne, Webster, Richard, Broomfield, Alexander, Ng, Joanne, Mathew, Ann A., O’Byrne, James J., Forman, Eva, Scoto, Mariacristina, Prasad, Manish, O’Brien, Katherine, Olpin, Simon, Oppenheim, Marcus, Hargreaves, Iain, Land, John M., Wang, Min X., Carpenter, Kevin, Horvath, Rita, Straub, Volker, Lek, Monkol, Gold, Wendy, Farrell, Michael O., Brandner, Sebastian, Phadke, Rahul, Matsubara, Kazuo, McGarvey, Michael L., Scherer, Steven S., Baxter, Peter S., King, Mary D., Clayton, Peter, Rahman, Shamima, Reilly, Mary M., Ouvrier, Robert A., Christodoulou, John, Züchner, Stephan, Muntoni, Francesco, Houlden, Henry
Publicado 2014