The genetics and pathology of mitochondrial disease
Alston, Charlotte L, Rocha, Mariana C, Lax, Nichola Z, Turnbull, Doug M, Taylor, Robert W
Published in The Journal of pathology (01.01.2017)
Published in The Journal of pathology (01.01.2017)
Get full text
Journal Article
The role of astrocytes in seizure generation: insights from a novel in vitro seizure model based on mitochondrial dysfunction
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
Published in Brain (London, England : 1878) (01.02.2019)
Published in Brain (London, England : 1878) (01.02.2019)
Get full text
Journal Article
Forecasting stroke-like episodes and outcomes in mitochondrial disease
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, Baird, Tracey, Maddison, Paul, Duncan, Callum, Poulton, Joanna, Nesbitt, Victoria, Hanna, Michael G, Pitceathly, Robert D S, Taylor, Robert W, Blakely, Emma L, Schaefer, Andrew M, Turnbull, Doug M, McFarland, Robert, Gorman, Gráinne S
Published in Brain (London, England : 1878) (18.04.2022)
Published in Brain (London, England : 1878) (18.04.2022)
Get full text
Journal Article
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
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, Bonnen, Penelope E, Ryan, Michael T, Chrzanowska‐Lightowlers, Zofia MA, Lightowlers, Robert N, Taylor, Robert W
Published in EMBO molecular medicine (01.11.2018)
Published in EMBO molecular medicine (01.11.2018)
Get full text
Journal Article
Astrocytic pathology in Alpers' syndrome
Smith, Laura A, Chen, Chun, Lax, Nichola Z, Taylor, Robert W, Erskine, Daniel, McFarland, Robert
Published in Acta neuropathologica communications (31.05.2023)
Published in Acta neuropathologica communications (31.05.2023)
Get full text
Journal Article
Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease
Phillips, Jonathan, Laude, Alex, Lightowlers, Robert, Morris, Chris M, Turnbull, Doug M, Lax, Nichola Z
Published in Scientific reports (16.05.2016)
Published in Scientific reports (16.05.2016)
Get full text
Journal Article
Epilepsy in adults with mitochondrial disease: A cohort study
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.
Published in Annals of neurology (01.12.2015)
Published in Annals of neurology (01.12.2015)
Get full text
Journal Article
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults
Ng, Yi Shiau, 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
Published in European heart journal (21.08.2016)
Published in European heart journal (21.08.2016)
Get full text
Journal Article
Cerebellar Ataxia in Patients With Mitochondrial DNA Disease: A Molecular Clinicopathological Study
Lax, Nichola Zoe, Hepplewhite, Philippa Denis, Reeve, Amy Katherine, Nesbitt, Victoria, McFarland, Robert, Jaros, Evelyn, Taylor, Robert William, Turnbull, Douglass Matthew
Published in Journal of neuropathology and experimental neurology (01.02.2012)
Published in Journal of neuropathology and experimental neurology (01.02.2012)
Get full text
Journal Article
Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls
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
Published in Acta neuropathologica (01.01.2020)
Published in Acta neuropathologica (01.01.2020)
Get full text
Journal Article
Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study
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.
Published in Brain pathology (Zurich, Switzerland) (01.01.2019)
Published in Brain pathology (Zurich, Switzerland) (01.01.2019)
Get full text
Journal Article
Mitochondrial mutations: newly discovered players in neuronal degeneration
Lax, Nichola Z, Turnbull, Doug M, Reeve, Amy K
Published in The Neuroscientist (Baltimore, Md.) (01.12.2011)
Published in The Neuroscientist (Baltimore, Md.) (01.12.2011)
Get more information
Journal Article
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease
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.
Published in Neuropathology and applied neurobiology (01.02.2016)
Published in Neuropathology and applied neurobiology (01.02.2016)
Get full text
Journal Article
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load
Ng, Yi Shiau, Lax, Nichola Z., Maddison, Paul, Alston, Charlotte L., Blakely, Emma L., Hepplewhite, Philippa D., Riordan, Gillian, Meldau, Surita, Chinnery, Patrick F., Pierre, Germaine, Chronopoulou, Efstathia, Du, Ailian, Hughes, Imelda, Morris, Andrew A., Kamakari, Smaragda, Chrousos, Georgia, Rodenburg, Richard J., Saris, Christiaan G.J., Feeney, Catherine, Hardy, Steven A., Sakakibara, Takafumi, Sudo, Akira, Okazaki, Yasushi, Murayama, Kei, Mundy, Helen, Hanna, Michael G., Ohtake, Akira, Schaefer, Andrew M., Champion, Mike P., Turnbull, Doug M., Taylor, Robert W., Pitceathly, Robert D.S., McFarland, Robert, Gorman, Gráinne S.
Published in EBioMedicine (01.04.2018)
Published in EBioMedicine (01.04.2018)
Get full text
Journal Article
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations
Lax, Nichola Z., Alston, Charlotte L., Schon, Katherine, Park, Soo-Mi, Krishnakumar, Deepa, He, Langping, Falkous, Gavin, Ogilvy-Stuart, Amanda, Lees, Christoph, King, Rosalind H., Hargreaves, Iain P., Brown, Garry K., McFarland, Robert, Dean, Andrew F., Taylor, Robert W.
Published in Journal of neuropathology and experimental neurology (01.07.2015)
Published in Journal of neuropathology and experimental neurology (01.07.2015)
Get full text
Journal Article
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction
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
Published in Communications biology (23.10.2023)
Published in Communications biology (23.10.2023)
Get full text
Journal Article
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease
Chrysostomou, Alexia, Grady, John P., Laude, Alex, Taylor, Robert W., Turnbull, Doug M., Lax, Nichola Z.
Published in Neuropathology and applied neurobiology (01.08.2016)
Published in Neuropathology and applied neurobiology (01.08.2016)
Get full text
Journal Article
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease
LAX, Nichola Z, PIENAAR, Ilse S, REEVE, Amy K, HEPPLEWHITE, Philippa D, JAROS, Evelyn, TAYLOR, Robert W, KALARIA, Raj N, TURNBULL, Doug M
Published in Brain (London, England : 1878) (01.06.2012)
Published in Brain (London, England : 1878) (01.06.2012)
Get full text
Journal Article