Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains von Gegg, Matthew E., Burke, Derek, Heales, Simon J. R., Cooper, J. Mark, Hardy, John, Wood, Nicholas W., Schapira, Anthony H. V.

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The monoamine neurotransmitter disorders: an expanding range of neurological syndromes von Kurian, Manju A, Dr, Gissen, Paul, PhD, Smith, Martin, PhD, Heales, Simon JR, Prof, Clayton, Peter T, Prof

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The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells von Hughes, Sean David, Kanabus, Marta, Anderson, Glenn, Hargreaves, Iain P., Rutherford, Tricia, Donnell, Maura O’, Cross, J. Helen, Rahman, Shamima, Eaton, Simon, Heales, Simon J. R.

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Mechanisms of action for the medium-chain triglyceride ketogenic diet in neurological and metabolic disorders von Augustin, Katrin, Khabbush, Aziza, Williams, Sophie, Eaton, Simon, Orford, Michael, Cross, J Helen, Heales, Simon J R, Walker, Matthew C, Williams, Robin S B

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Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study von Kurian, Manju A, Dr, Li, Yan, PhD, Zhen, Juan, PhD, Meyer, Esther, PhD, Hai, Nebula, BSc, Christen, Hans-Jürgen, Prof, Hoffmann, Georg F, Prof, Jardine, Philip, MD, von Moers, Arpad, MD, Mordekar, Santosh R, MD, O'Callaghan, Finbar, PhD, Wassmer, Evangeline, FRCPCH, Wraige, Elizabeth, FRCPCH, Dietrich, Christa, PhD, Lewis, Timothy, FRCR, Hyland, Keith, PhD, Heales, Simon JR, Prof, Sanger, Terence, MD, Gissen, Paul, PhD, Assmann, Birgit E, MD, Reith, Maarten EA, Prof, Maher, Eamonn R, Prof

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Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype von 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.

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Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis von Bowron, Ann, Frost, Robert, Powers, Vicki E. C., Thomas, Paul H., Heales, Simon J. R., Steward, Colin G.

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The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome von Kanabus, Marta, Fassone, Elisa, Hughes, Sean David, Bilooei, Sara Farahi, Rutherford, Tricia, Donnell, Maura O’, Heales, Simon J. R., Rahman, Shamima

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Pyridoxal 5′-phosphate deficiency causes a loss of aromatic l-amino acid decarboxylase in patients and human neuroblastoma cells, implications for aromatic l-amino acid decarboxyla... von Allen, George F.G, Neergheen, Viruna, Oppenheim, Marcus, Fitzgerald, Julia C, Footitt, Emma, Hyland, Keith, Clayton, Peter T, Land, John M, Heales, Simon J.R

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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia von 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.

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Tetrahydrobiopterin availability in Parkinson's and Alzheimer's disease; potential pathogenic mechanisms von Foxton, Richard H, Land, John M, Heales, Simon J R

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Inactivation of brain mitochondrial Lon protease by peroxynitrite precedes electron transport chain dysfunction von Stanyer, Lee, Jorgensen, Wenche, Hori, Osamu, Clark, John B., Heales, Simon J.R.

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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 von 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

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Intracellular distribution of the fluorescent dye nonyl acridine orange responds to the mitochondrial membrane potential: implications for assays of cardiolipin and mitochondrial m... von Jacobson, Jake, Duchen, Michael R., Heales, Simon J. R.

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Induction of mitochondrial oxidative stress in astrocytes by nitric oxide precedes disruption of energy metabolism von Jacobson, Jake, Duchen, Michael R., Hothersall, John, Clark, John B., Heales, Simon J. R.

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Astrocytes Protect Against Copper-Catalysed Loss of Extracellular Glutathione von Pope, Simon A. S., Milton, Rosemary, Heales, Simon J. R.

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Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase von Mills, Philippa B., Surtees, Robert A.H., Champion, Michael P., Beesley, Clare E., Dalton, Neil, Scambler, Peter J., Heales, Simon J.R., Briddon, Anthony, Scheimberg, Irene, Hoffmann, Georg F., Zschocke, Johannes, Clayton, Peter T.

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Coenzyme Q10 quantification in muscle, fibroblasts and cerebrospinal fluid by liquid chromatography/tandem mass spectrometry using a novel deuterated internal standard von Duberley, Kate E. C., Hargreaves, Iain P., Chaiwatanasirikul, Korn-Anong, Heales, Simon J. R., Land, John M., Rahman, Shamima, Mills, Kevin, Eaton, Simon

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Depletion of glutathione does not affect electron transport chain complex activity in brain mitochondria: Implications for Parkinson disease and postmortem studies von Heales, Simon J.R., Menzes, Adrian, Davey, Gavin P.

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Missense dopamine transporter mutations associate with adult parkinsonism and ADHD von Hansen, Freja H, Skjørringe, Tina, Yasmeen, Saiqa, Arends, Natascha V, Sahai, Michelle A, Erreger, Kevin, Andreassen, Thorvald F, Holy, Marion, Hamilton, Peter J, Neergheen, Viruna, Karlsborg, Merete, Newman, Amy H, Pope, Simon, Heales, Simon J R, Friberg, Lars, Law, Ian, Pinborg, Lars H, Sitte, Harald H, Loland, Claus, Shi, Lei, Weinstein, Harel, Galli, Aurelio, Hjermind, Lena E, Møller, Lisbeth B, Gether, Ulrik

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