Rahman S - Search Results

1

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

Menezes MP, Rahman S, Bhattacharya K, Clark D, Christodoulou J, Ellaway C, Farrar M, Pitt M, Sampaio H, Ware TL, Wedatilake Y, Thorburn DR, Ryan MM, Ouvrier R. Menezes MP, et al. Among authors: rahman s. Mitochondrion. 2016 Sep;30:162-7. doi: 10.1016/j.mito.2016.07.014. Epub 2016 Jul 27. Mitochondrion. 2016. PMID: 27475922

2

Leigh syndrome: clinical features and biochemical and DNA abnormalities.

Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753

3

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Pagnamenta AT, Taanman JW, Wilson CJ, Anderson NE, Marotta R, Duncan AJ, Bitner-Glindzicz M, Taylor RW, Laskowski A, Thorburn DR, Rahman S. Pagnamenta AT, et al. Among authors: rahman s. Hum Reprod. 2006 Oct;21(10):2467-73. doi: 10.1093/humrep/del076. Epub 2006 Apr 4. Hum Reprod. 2006. PMID: 16595552

4

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.

Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G, Grunewald S. Glamuzina E, et al. Among authors: rahman s. J Inherit Metab Dis. 2012 May;35(3):459-67. doi: 10.1007/s10545-011-9413-6. Epub 2011 Nov 16. J Inherit Metab Dis. 2012. PMID: 22086604

5

Mitochondrial disease and epilepsy.

Rahman S. Rahman S. Dev Med Child Neurol. 2012 May;54(5):397-406. doi: 10.1111/j.1469-8749.2011.04214.x. Epub 2012 Jan 28. Dev Med Child Neurol. 2012. PMID: 22283595 Free article. Review.

6

189th ENMC international workshop complex I deficiency: diagnosis and treatment 20-22 April 2012, Naarden, The Netherlands.

Rahman S, Thorburn DR. Rahman S, et al. Neuromuscul Disord. 2013 Jun;23(6):506-15. doi: 10.1016/j.nmd.2013.03.004. Epub 2013 Apr 11. Neuromuscul Disord. 2013. PMID: 23582335 No abstract available.

7

NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG; UK10K Consortium. Pitceathly RD, et al. Among authors: rahman s. Cell Rep. 2013 Jun 27;3(6):1795-805. doi: 10.1016/j.celrep.2013.05.005. Epub 2013 Jun 6. Cell Rep. 2013. PMID: 23746447 Free PMC article.

8

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: rahman s. 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.

9

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.

Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S. Shahni R, et al. Among authors: rahman s. Am J Med Genet A. 2013 Sep;161A(9):2334-8. doi: 10.1002/ajmg.a.36065. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918765 Free PMC article.

10

Treatable Leigh-like encephalopathy presenting in adolescence.

Fassone E, Wedatilake Y, DeVile CJ, Chong WK, Carr LJ, Rahman S. Fassone E, et al. Among authors: rahman s. BMJ Case Rep. 2013 Oct 7;2013:200838. doi: 10.1136/bcr-2013-200838. BMJ Case Rep. 2013. PMID: 24099834 Free PMC article.

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