Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients

por Schottlaender, Lucia V., Bettencourt, Conceição, Kiely, Aoife P., Chalasani, Annapurna, Neergheen, Viruna, Holton, Janice L., Hargreaves, Iain, Houlden, Henry
Publicado 2016

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

Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation

por Liu, Yo-Tsen, Hersheson, Joshua, Plagnol, Vincent, Fawcett, Katherine, Duberley, Kate E C, Preza, Elisavet, Hargreaves, Iain P, Chalasani, Annapurna, Laurá, Matilde, Wood, Nick W, Reilly, Mary M, Houlden, Henry
Publicado 2014

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

por Shahni, Rojeen, Cale, Catherine M., Anderson, Glenn, Osellame, Laura D., Hambleton, Sophie, Jacques, Thomas S., Wedatilake, Yehani, Taanman, Jan-Willem, Chan, Emma, Qasim, Waseem, Plagnol, Vincent, Chalasani, Annapurna, Duchen, Michael R., Gilmour, Kimberly C., Rahman, Shamima
Publicado 2015

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

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

por Bugiardini, Enrico, Bottani, Emanuela, Marchet, Silvia, Poole, Olivia V., Beninca, Cristiane, Horga, Alejandro, Woodward, Cathy, Lam, Amanda, Hargreaves, Iain, Chalasani, Annapurna, Valerio, Alessandra, Lamantea, Eleonora, Venner, Kerrie, Holton, Janice L., Zeviani, Massimo, Houlden, Henry, Quinlivan, Rosaline, Lamperti, Costanza, Hanna, Michael G., Pitceathly, Robert D.S.
Publicado 2020