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

af Schottlaender, Lucia V., Bettencourt, Conceição, Kiely, Aoife P., Chalasani, Annapurna, Neergheen, Viruna, Holton, Janice L., Hargreaves, Iain, Houlden, Henry
Udgivet i PLoS One (2016)

Nrf2 impacts cellular bioenergetics by controlling substrate availability for mitochondrial respiration

af 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.
Udgivet 2013

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

af 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
Udgivet 2014

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

af 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
Udgivet i Brain (2015)

Absence of Intracellular Ion Channels TPC1 and TPC2 Leads to Mature-Onset Obesity in Male Mice, Due to Impaired Lipid Availability for Thermogenesis in Brown Adipose Tissue

af Lear, Pamela V., González-Touceda, David, Porteiro Couto, Begoña, Viaño, Patricia, Guymer, Vanessa, Remzova, Elena, Tunn, Ruth, Chalasani, Annapurna, García-Caballero, Tomás, Hargreaves, Iain P., Tynan, Patricia W., Christian, Helen C., Nogueiras, Rubén, Parrington, John, Diéguez, Carlos
Udgivet i Endocrinology (2015)

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy

af 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
Udgivet 2014

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

af 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.
Udgivet i Neurol Genet (2020)

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

af Pitceathly, Robert D.S., Murphy, Sinéad M., Cottenie, Ellen, Chalasani, Annapurna, Sweeney, Mary G., Woodward, Cathy, Mudanohwo, Ese E., Hargreaves, Iain, Heales, Simon, Land, John, Holton, Janice L., Houlden, Henry, Blake, Julian, Champion, Michael, Flinter, Frances, Robb, Stephanie A., Page, Rupert, Rose, Michael, Palace, Jacqueline, Crowe, Carol, Longman, Cheryl, Lunn, Michael P., Rahman, Shamima, Reilly, Mary M., Hanna, Michael G.
Udgivet 2012