Mitochondrial Mutations: Newly Discovered Players in Neuronal Degeneration

por Lax, Nichola Z., Turnbull, Doug M., Reeve, Amy K.
Publicado 2011

The mitochondrial brain: From mitochondrial genome to neurodegeneration

por Turnbull, Helen E., Lax, Nichola Z., Diodato, Daria, Ansorge, Olaf, Turnbull, Doug M.
Publicado 2010

Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease

por Phillips, Jonathan, Laude, Alex, Lightowlers, Robert, Morris, Chris M., Turnbull, Doug M., Lax, Nichola Z.
Publicado 2016

The genetics and pathology of mitochondrial disease

por Alston, Charlotte L, Rocha, Mariana C, Lax, Nichola Z, Turnbull, Doug M, Taylor, Robert W
Publicado 2016

Astrocytic pathology in Alpers’ syndrome

por Smith, Laura A, Chen, Chun, Lax, Nichola Z, Taylor, Robert W, Erskine, Daniel, McFarland, Robert
Publicado 2023

Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease

por Chrysostomou, Alexia, Grady, John P., Laude, Alex, Taylor, Robert W., Turnbull, Doug M., Lax, Nichola Z.
Publicado 2015

Delineating selective vulnerability of inhibitory interneurons in Alpers' syndrome

por Smith, Laura A., Erskine, Daniel, Blain, Alasdair, Taylor, Robert W., McFarland, Robert, Lax, Nichola Z.
Publicado 2022

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

por Lax, Nichola Z., Pienaar, Ilse S., Reeve, Amy K., Hepplewhite, Philippa D., Jaros, Evelyn, Taylor, Robert W., Kalaria, Raj N., Turnbull, Doug M.
Publicado 2012

Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue

por Grünewald, Anne, Lax, Nichola Z., Rocha, Mariana C., Reeve, Amy K., Hepplewhite, Philippa D., A. Rygiel, Karolina, Taylor, Robert W., Turnbull, Doug M.
Publicado 2014

A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction

por 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.
Publicado 2023

Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease

por 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.
Publicado 2015

Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

por 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.
Publicado 2018

Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls

por 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
Publicado 2019

Epilepsy in adults with mitochondrial disease: A cohort study

por 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.
Publicado 2015

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to...

por 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.
Publicado 2015

Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults

por 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.
Publicado 2016

Analysis of primary visual cortex in dementia with Lewy bodies indicates GABAergic involvement associated with recurrent complex visual hallucinations

por 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, Attems, Johannes, Thomas, Alan J., McKeith, Ian G., Morris, Christopher M.
Publicado 2016

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect

por 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
Publicado 2018

Forecasting stroke-like episodes and outcomes in mitochondrial disease

por 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
Publicado 2021

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

por 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.
Publicado 2018