Persistent Mitochondrial Damage by Nitric Oxide and its Derivatives: Neuropathological Implications

por Bolaños, Juan P., Heales, Simon J. R.
Publicado 2010

Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells

por Lambert, Jonathan R. A., Howe, Steven J., Rahim, Ahad A., Burke, Derek G., Heales, Simon J. R.
Publicado 2019

Advances in methods to analyse cardiolipin and their clinical applications

por Bautista, Javier S., Falabella, Micol, Flannery, Padraig J., Hanna, Michael G., Heales, Simon J.R., Pope, Simon A.S., Pitceathly, Robert D.S.
Publicado 2022

Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains

por Gegg, Matthew E, Burke, Derek, Heales, Simon J R, Cooper, J Mark, Hardy, John, Wood, Nicholas W, Schapira, Anthony H V
Publicado 2012

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

por Kanabus, Marta, Fassone, Elisa, Hughes, Sean David, Bilooei, Sara Farahi, Rutherford, Tricia, Donnell, Maura O’, Heales, Simon J. R., Rahman, Shamima
Publicado 2016

CoQ(10) Deficient Endothelial Cell Culture Model for the Investigation of CoQ(10) Blood–Brain Barrier Transport

por Wainwright, Luke, Hargreaves, Iain P., Georgian, Ana R., Turner, Charles, Dalton, R. Neil, Abbott, N. Joan, Heales, Simon J. R., Preston, Jane E.
Publicado 2020

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado 2014

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

por Bowron, Ann, Honeychurch, Julie, Williams, Maggie, Tsai-Goodman, Beverley, Clayton, Nicol, Jones, Lucy, Shortland, Graham J., Qureshi, Shakeel A., Heales, Simon J. R., Steward, Colin G.
Publicado 2015

Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies

por Rossignoli, Giada, Krämer, Karolin, Lugarà, Eleonora, Alrashidi, Haya, Pope, Simon, De La Fuente Barrigon, Carmen, Barwick, Katy, Bisello, Giovanni, Ng, Joanne, Counsell, John, Lignani, Gabriele, Heales, Simon J R, Bertoldi, Mariarita, Barral, Serena, Kurian, Manju A
Publicado 2021

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

por Wilson, Matthew P., Footitt, Emma J., Papandreou, Apostolos, Uudelepp, Mari-Liis, Pressler, Ronit, Stevenson, Danielle C., Gabriel, Camila, McSweeney, Mel, Baggot, Matthew, Burke, Derek, Stödberg, Tommy, Riney, Kate, Schiff, Manuel, Heales, Simon J. R., Mills, Kevin A., Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Publicado 2017

K.Vita: a feasibility study of a blend of medium chain triglycerides to manage drug-resistant epilepsy

por Schoeler, Natasha E, Orford, Michael, Vivekananda, Umesh, Simpson, Zoe, Van de Bor, Baheerathi, Smith, Hannah, Balestrini, Simona, Rutherford, Tricia, Brennan, Erika, McKenna, James, Lambert, Bridget, Barker, Tom, Jackson, Richard, Williams, Robin S B, Sisodiya, Sanjay M, Eaton, Simon, Heales, Simon J R, Cross, J Helen, Walker, Matthew C
Publicado 2021

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

por Ng, Joanne, Cortès‐Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M., Heales, Simon J.R., Pope, Simon, Biassoni, Lorenzo, Csányi, Barbara, Cain, John, Rakshi, Karl, Coutts, Helen, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Deborah, García‐Cazorla, Àngels, Grozeva, Detelina, Raymond, F. Lucy, Pérez‐Dueñas, Belén, De Goede, Christian, Pearson, Toni S., Meyer, Esther, Kurian, Manju A.
Publicado 2020

PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

por Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zanetti, M. Natalia, Zamba‐Papanicolaou, Eleni, Efthymiou, Stephanie, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Christodoulou, Kyproula, Kernohan, Kristin D., Eaton, Alison, Osmond, Matthew, Ito, Yoko, Bourque, Pierre, Jepson, James E. C., Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Heslegrave, Amanda, Zetterberg, Henrik, Heales, Simon J. R., Wood, Nicholas W., Rothman, James E., Boycott, Kym M., Mills, Philippa B., Clayton, Peter T., Houlden, Henry
Publicado 2019