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Items: 22

1.

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect.

Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW.

EMBO Mol Med. 2018 Sep 10. pii: e9060. doi: 10.15252/emmm.201809060. [Epub ahead of print]

2.

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

Hayhurst H, Anagnostou ME, Bogle HJ, Grady JP, Taylor RW, Bindoff LA, McFarland R, Turnbull DM, Lax NZ.

Brain Pathol. 2018 Jul 18. doi: 10.1111/bpa.12640. [Epub ahead of print]

PMID:
30021052
3.

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

Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS.

EBioMedicine. 2018 Apr;30:86-93. doi: 10.1016/j.ebiom.2018.02.010. Epub 2018 Feb 24.

4.

The genetics and pathology of mitochondrial disease.

Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW.

J Pathol. 2017 Jan;241(2):236-250. doi: 10.1002/path.4809. Epub 2016 Nov 2. Review.

5.

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

Khundakar AA, Hanson PS, Erskine D, Lax NZ, Roscamp J, Karyka E, Tsefou E, Singh P, Cockell SJ, Gribben A, Ramsay L, Blain PG, Mosimann UP, Lett DJ, Elstner M, Turnbull DM, Xiang CC, Brownstein MJ, O'Brien JT, Taylor JP, Attems J, Thomas AJ, McKeith IG, Morris CM.

Acta Neuropathol Commun. 2016 Jun 30;4(1):66. doi: 10.1186/s40478-016-0334-3.

6.

Review: Central nervous system involvement in mitochondrial disease.

Lax NZ, Gorman GS, Turnbull DM.

Neuropathol Appl Neurobiol. 2017 Feb;43(2):102-118. doi: 10.1111/nan.12333. Epub 2016 Jul 7. Review.

7.
8.

Neuronal oscillations: A physiological correlate for targeting mitochondrial dysfunction in neurodegenerative diseases?

Chan F, Lax NZ, Davies CH, Turnbull DM, Cunningham MO.

Neuropharmacology. 2016 Mar;102:48-58. doi: 10.1016/j.neuropharm.2015.10.033. Epub 2015 Oct 28. Review.

PMID:
26518370
9.

Epilepsy in adults with mitochondrial disease: A cohort study.

Whittaker RG, Devine HE, Gorman GS, Schaefer AM, Horvath R, Ng Y, Nesbitt V, Lax NZ, McFarland R, Cunningham MO, Taylor RW, Turnbull DM.

Ann Neurol. 2015 Dec;78(6):949-57. doi: 10.1002/ana.24525. Epub 2015 Nov 17.

10.

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

Chrysostomou A, Grady JP, Laude A, Taylor RW, Turnbull DM, Lax NZ.

Neuropathol Appl Neurobiol. 2016 Aug;42(5):477-92. doi: 10.1111/nan.12282. Epub 2015 Sep 30.

11.

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

Ng YS, Grady JP, Lax NZ, Bourke JP, Alston CL, Hardy SA, Falkous G, Schaefer AG, Radunovic A, Mohiddin SA, Ralph M, Alhakim A, Taylor RW, McFarland R, Turnbull DM, Gorman GS.

Eur Heart J. 2016 Aug 21;37(32):2552-9. doi: 10.1093/eurheartj/ehv306. Epub 2015 Jul 17.

12.

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 NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2015 Jul;74(7):688-703. doi: 10.1097/NEN.0000000000000209.

13.

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

Lax NZ, Grady J, Laude A, Chan F, Hepplewhite PD, Gorman G, Whittaker RG, Ng Y, Cunningham MO, Turnbull DM.

Neuropathol Appl Neurobiol. 2016 Feb;42(2):180-93. doi: 10.1111/nan.12238. Epub 2015 May 30.

14.

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

Grünewald A, Lax NZ, Rocha MC, Reeve AK, Hepplewhite PD, Rygiel KA, Taylor RW, Turnbull DM.

J Neurosci Methods. 2014 Jul 30;232:143-9. doi: 10.1016/j.jneumeth.2014.05.026. Epub 2014 May 29.

15.

Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.

Lax NZ, Gnanapavan S, Dowson SJ, Alston CL, He L, Polvikoski TM, Jaros E, O'Donovan DG, Yarham JW, Turnbull DM, Dean AF, Taylor RW.

J Neuropathol Exp Neurol. 2013 Feb;72(2):164-75. doi: 10.1097/NEN.0b013e31828129c5.

PMID:
23334599
16.

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.

Lax NZ, Pienaar IS, Reeve AK, Hepplewhite PD, Jaros E, Taylor RW, Kalaria RN, Turnbull DM.

Brain. 2012 Jun;135(Pt 6):1736-50. doi: 10.1093/brain/aws110. Epub 2012 May 9.

17.

Loss of myelin-associated glycoprotein in kearns-sayre syndrome.

Lax NZ, Campbell GR, Reeve AK, Ohno N, Zambonin J, Blakely EL, Taylor RW, Bonilla E, Tanji K, DiMauro S, Jaros E, Lassmann H, Turnbull DM, Mahad DJ.

Arch Neurol. 2012 Apr;69(4):490-9. doi: 10.1001/archneurol.2011.2167.

18.

Relationship between mitochondria and α-synuclein: a study of single substantia nigra neurons.

Reeve AK, Park TK, Jaros E, Campbell GR, Lax NZ, Hepplewhite PD, Krishnan KJ, Elson JL, Morris CM, McKeith IG, Turnbull DM.

Arch Neurol. 2012 Mar;69(3):385-93. doi: 10.1001/archneurol.2011.2675.

PMID:
22410447
19.

Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.

Lax NZ, Hepplewhite PD, Reeve AK, Nesbitt V, McFarland R, Jaros E, Taylor RW, Turnbull DM.

J Neuropathol Exp Neurol. 2012 Feb;71(2):148-61. doi: 10.1097/NEN.0b013e318244477d.

20.

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.

Lax NZ, Whittaker RG, Hepplewhite PD, Reeve AK, Blakely EL, Jaros E, Ince PG, Taylor RW, Fawcett PR, Turnbull DM.

Brain. 2012 Jan;135(Pt 1):62-71. doi: 10.1093/brain/awr326. Epub 2011 Dec 20.

21.

Mitochondrial mutations: newly discovered players in neuronal degeneration.

Lax NZ, Turnbull DM, Reeve AK.

Neuroscientist. 2011 Dec;17(6):645-58. doi: 10.1177/1073858411385469. Review.

22.

The mitochondrial brain: From mitochondrial genome to neurodegeneration.

Turnbull HE, Lax NZ, Diodato D, Ansorge O, Turnbull DM.

Biochim Biophys Acta. 2010 Jan;1802(1):111-21. doi: 10.1016/j.bbadis.2009.07.010. Epub 2009 Aug 6. Review.

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