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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201809060
By:
- Thompson, Kyle;
- Mai, Nicole;
- Oláhová, Monika;
- Scialó, Filippo;
- Formosa, Luke E;
- Stroud, David A;
- Garrett, Madeleine;
- Lax, Nichola Z;
- Robertson, Fiona M;
- Jou, Cristina;
- Nascimento, Andres;
- Ortez, Carlos;
- Jimenez‐Mallebrera, Cecilia;
- Hardy, Steven A;
- He, Langping;
- Brown, Garry K;
- Marttinen, Paula;
- McFarland, Robert;
- Sanz, Alberto;
- Battersby, Brendan J
Publication type:
Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Published in:
2022
By:
- Ng, Yi Shiau;
- Lax, Nichola Z;
- Blain, Alasdair P;
- Erskine, Daniel;
- Baker, Mark R;
- Polvikoski, Tuomo;
- Thomas, Rhys H;
- Morris, Christopher M;
- Lai, Ming;
- Whittaker, Roger G;
- Gebbels, Alasdair;
- Winder, Amy;
- Hall, Julie;
- Feeney, Catherine;
- Farrugia, Maria Elena;
- Hirst, Claire;
- Roberts, Mark;
- Lawthom, Charlotte;
- Chrysostomou, Alexia;
- Murphy, Kevin
Publication type:
journal article
The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction.
Published in:
2019
By:
- Chan, Felix;
- Lax, Nichola Z;
- Voss, Caroline Marie;
- Aldana, Blanca Irene;
- Whyte, Shuna;
- Jenkins, Alistair;
- Nicholson, Claire;
- Nichols, Sophie;
- Tilley, Elizabeth;
- Powell, Zoe;
- Waagepetersen, Helle S;
- Davies, Ceri H;
- Turnbull, Doug M;
- Cunningham, Mark O
Publication type:
journal article
The genetics and pathology of mitochondrial disease.
Published in:
Journal of Pathology, 2017, v. 241, n. 2, p. 236, doi. 10.1002/path.4809
By:
- Alston, Charlotte L;
- Rocha, Mariana C;
- Lax, Nichola Z;
- Turnbull, Doug M;
- Taylor, Robert W
Publication type:
Article
Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations.
Published in:
Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0334-3
By:
- Khundakar, Ahmad A.;
- Hanson, Peter S.;
- Erskine, Daniel;
- Lax, Nichola Z.;
- Roscamp, Joseph;
- Karyka, Evangelia;
- Tsefou, Eliona;
- Singh, Preeti;
- Cockell, Simon J.;
- Gribben, Andrew;
- Ramsay, Lynne;
- Blain, Peter G.;
- Mosimann, Urs P.;
- Lett, Deborah J.;
- Elstner, Matthias;
- Turnbull, Douglass M.;
- Xiang, Charles C.;
- Brownstein, Michael J.;
- O'Brien, John T.;
- Taylor, John-Paul
Publication type:
Article
Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease.
Published in:
Scientific Reports, 2016, p. 26013, doi. 10.1038/srep26013
By:
- Phillips, Jonathan;
- Laude, Alex;
- Lightowlers, Robert;
- Morris, Chris M.;
- Turnbull, Doug M.;
- Lax, Nichola Z.
Publication type:
Article
Astrocytic pathology in Alpers' syndrome.
Published in:
Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01579-w
By:
- Smith, Laura A;
- Chen, Chun;
- Lax, Nichola Z;
- Taylor, Robert W;
- Erskine, Daniel;
- McFarland, Robert
Publication type:
Article
Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome.
Published in:
Neuropathology & Applied Neurobiology, 2022, v. 48, n. 6, p. 1, doi. 10.1111/nan.12833
By:
- Smith, Laura A.;
- Erskine, Daniel;
- Blain, Alasdair;
- Taylor, Robert W.;
- McFarland, Robert;
- Lax, Nichola Z.
Publication type:
Article
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.
Published in:
Neuropathology & Applied Neurobiology, 2016, v. 42, n. 5, p. 477, doi. 10.1111/nan.12282
By:
- Chrysostomou, Alexia;
- Grady, John P.;
- Laude, Alex;
- Taylor, Robert W.;
- Turnbull, Doug M.;
- Lax, Nichola Z.
Publication type:
Article
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.
Published in:
Neuropathology & Applied Neurobiology, 2016, v. 42, n. 2, p. 180, doi. 10.1111/nan.12238
By:
- Lax, Nichola Z.;
- Grady, John;
- Laude, Alex;
- Chan, Felix;
- Hepplewhite, Philippa D.;
- Gorman, Grainne;
- Whittaker, Roger G.;
- Ng, Yi;
- Cunningham, Mark O.;
- Turnbull, Doug M.
Publication type:
Article
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 6, p. 1736, doi. 10.1093/brain/aws110
By:
- Lax, Nichola Z.;
- Pienaar, Ilse S.;
- Reeve, Amy K.;
- Hepplewhite, Philippa D.;
- Jaros, Evelyn;
- Taylor, Robert W.;
- Kalaria, Raj N.;
- Turnbull, Doug M.
Publication type:
Article
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
Published in:
Brain: A Journal of Neurology, 2012, v. 135, n. 1, p. 62, doi. 10.1093/brain/awr326
By:
- Lax, Nichola Z.;
- Whittaker, Roger G.;
- Hepplewhite, Philippa D.;
- Reeve, Amy K.;
- Blakely, Emma L.;
- Jaros, Evelyn;
- Ince, Paul G.;
- Taylor, Robert W.;
- Fawcett, Peter R. W.;
- Turnbull, Doug M.
Publication type:
Article
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.
Published in:
Brain Pathology, 2019, v. 29, n. 1, p. 97, doi. 10.1111/bpa.12640
By:
- Hayhurst, Hannah;
- Anagnostou, Maria‐Eleni;
- Bogle, Helen J.;
- Grady, John P.;
- Taylor, Robert W.;
- Bindoff, Laurence A.;
- McFarland, Robert;
- Turnbull, Doug M.;
- Lax, Nichola Z.
Publication type:
Article
Epilepsy in adults with mitochondrial disease: A cohort study.
Published in:
2015
By:
- Whittaker, Roger G.;
- Devine, Helen E.;
- Gorman, Grainne S.;
- Schaefer, Andrew M.;
- Horvath, Rita;
- Ng, Yi;
- Nesbitt, Victoria;
- Lax, Nichola Z.;
- McFarland, Robert;
- Cunningham, Mark O.;
- Taylor, Robert W.;
- Turnbull, Douglass M.
Publication type:
journal article
Mitochondrial Mutations: Newly Discovered Players in Neuronal Degeneration.
Published in:
Neuroscientist, 2011, v. 17, n. 6, p. 645, doi. 10.1177/1073858411385469
By:
- Lax, Nichola Z.;
- Turnbull, Doug M.;
- Reeve, Amy K.
Publication type:
Article
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls.
Published in:
2020
By:
- Erskine, Daniel;
- Reeve, Amy K.;
- Polvikoski, Tuomo;
- Schaefer, Andrew M.;
- Taylor, Robert W.;
- Lax, Nichola Z.;
- El-Agnaf, Omar;
- Attems, Johannes;
- Gorman, Gráinne S.;
- Turnbull, Doug M.;
- Ng, Yi Shau
Publication type:
Letter
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Published in:
Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05238-7
By:
- Olkhova, Elizaveta A.;
- Bradshaw, Carla;
- Blain, Alasdair;
- Alvim, Debora;
- Turnbull, Doug M.;
- LeBeau, Fiona E. N.;
- Ng, Yi Shiau;
- Gorman, Gráinne S.;
- Lax, Nichola Z.
Publication type:
Article
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
Published in:
European Heart Journal, 2016, v. 37, n. 32, p. 2552, doi. 10.1093/eurheartj/ehv306
By:
- Yi Shiau Ng;
- Grady, John P.;
- Lax, Nichola Z.;
- Bourke, John P.;
- Alston, Charlotte L.;
- Hardy, Steven A.;
- Falkous, Gavin;
- Schaefer, Andrew G.;
- Radunovic, Aleksandar;
- Mohiddin, Saidi A.;
- Ralph, Matilda;
- Alhakim, Ali;
- Taylor, Robert W.;
- McFarland, Robert;
- Turnbull, Douglass M.;
- Gorman, Gráinne S.
Publication type:
Article

Found: 18