Land JM - Search Results

1

SURF1 deficiency: a multi-centre natural history study.

Wedatilake Y, Brown RM, McFarland R, Yaplito-Lee J, Morris AA, Champion M, Jardine PE, Clarke A, Thorburn DR, Taylor RW, Land JM, Forrest K, Dobbie A, Simmons L, Aasheim ET, Ketteridge D, Hanrahan D, Chakrapani A, Brown GK, Rahman S. Wedatilake Y, et al. Among authors: land jm. Orphanet J Rare Dis. 2013 Jul 5;8:96. doi: 10.1186/1750-1172-8-96. Orphanet J Rare Dis. 2013. PMID: 23829769 Free PMC article.

2

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK. Matthews PM, et al. Ann Neurol. 1993 Jun;33(6):652-5. doi: 10.1002/ana.410330616. Ann Neurol. 1993. PMID: 8498846

3

Isolated capillary proliferation in Leigh's syndrome.

Matthews PM, Nagy Z, Brown GK, Land J, Squier MV. Matthews PM, et al. Clin Neuropathol. 1994 May-Jun;13(3):139-41. Clin Neuropathol. 1994. PMID: 7522140

4

A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy.

Alston CL, Morak M, Reid C, Hargreaves IP, Pope SA, Land JM, Heales SJ, Horvath R, Mundy H, Taylor RW. Alston CL, et al. Among authors: land jm. Neuromuscul Disord. 2010 Feb;20(2):131-5. doi: 10.1016/j.nmd.2009.10.010. Epub 2009 Dec 16. Neuromuscul Disord. 2010. PMID: 20018511

5

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

Pagnamenta AT, Hargreaves IP, Duncan AJ, Taanman JW, Heales SJ, Land JM, Bitner-Glindzicz M, Leonard JV, Rahman S. Pagnamenta AT, et al. Among authors: land jm. Mol Genet Metab. 2006 Nov;89(3):214-21. doi: 10.1016/j.ymgme.2006.05.003. Epub 2006 Jun 23. Mol Genet Metab. 2006. PMID: 16798039

6

Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion.

Hargreaves P, Rahman S, Guthrie P, Taanman JW, Leonard JV, Land JM, Heales SJ. Hargreaves P, et al. Among authors: land jm. J Inherit Metab Dis. 2002 Feb;25(1):7-16. doi: 10.1023/a:1015104910239. J Inherit Metab Dis. 2002. PMID: 12004863

7

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Hanna MG, Nelson IP, Rahman S, Lane RJ, Land J, Heales S, Cooper MJ, Schapira AH, Morgan-Hughes JA, Wood NW. Hanna MG, et al. Am J Hum Genet. 1998 Jul;63(1):29-36. doi: 10.1086/301910. Am J Hum Genet. 1998. PMID: 9634511 Free PMC article.

8

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

Pitceathly RD, Taanman JW, Rahman S, Meunier B, Sadowski M, Cirak S, Hargreaves I, Land JM, Nanji T, Polke JM, Woodward CE, Sweeney MG, Solanki S, Foley AR, Hurles ME, Stalker J, Blake J, Holton JL, Phadke R, Muntoni F, Reilly MM, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Among authors: land jm. JAMA Neurol. 2013 Dec;70(12):1556-61. doi: 10.1001/jamaneurol.2013.3242. JAMA Neurol. 2013. PMID: 24100867

9

Effect of Coenzyme Q10 supplementation on mitochondrial electron transport chain activity and mitochondrial oxidative stress in Coenzyme Q10 deficient human neuronal cells.

Duberley KE, Heales SJ, Abramov AY, Chalasani A, Land JM, Rahman S, Hargreaves IP. Duberley KE, et al. Among authors: land jm. Int J Biochem Cell Biol. 2014 May;50:60-3. doi: 10.1016/j.biocel.2014.02.003. Epub 2014 Feb 15. Int J Biochem Cell Biol. 2014. PMID: 24534273

10

Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: implications for the accelerated degradation of folate by reactive oxygen species.

Aylett SB, Neergheen V, Hargreaves IP, Eaton S, Land JM, Rahman S, Heales SJ. Aylett SB, et al. Among authors: land jm. Neurochem Int. 2013 Dec;63(8):750-5. doi: 10.1016/j.neuint.2013.10.002. Epub 2013 Oct 15. Neurochem Int. 2013. PMID: 24140430

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