Rahman S - Search Results

1

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: rahman s. 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

2

Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency.

Heales SJ, Thompson GN, Massoud AF, Rahman S, Halliday D, Leonard JV. Heales SJ, et al. Among authors: rahman s. J Inherit Metab Dis. 1994;17(1):74-80. doi: 10.1007/BF00735398. J Inherit Metab Dis. 1994. PMID: 8051939

3

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. Among authors: rahman s. Am J Hum Genet. 1998 Jul;63(1):29-36. doi: 10.1086/301910. Am J Hum Genet. 1998. PMID: 9634511 Free PMC article.

4

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.

Rahman S, Taanman JW, Cooper JM, Nelson I, Hargreaves I, Meunier B, Hanna MG, García JJ, Capaldi RA, Lake BD, Leonard JV, Schapira AH. Rahman S, et al. Am J Hum Genet. 1999 Oct;65(4):1030-9. doi: 10.1086/302590. Am J Hum Genet. 1999. PMID: 10486321 Free PMC article.

5

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms.

Rahman S, Lake BD, Taanman JW, Hanna MG, Cooper JM, Schapira AH, Leonard JV. Rahman S, et al. Brain. 2000 Mar;123 Pt 3:591-600. doi: 10.1093/brain/123.3.591. Brain. 2000. PMID: 10686181

6

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

Rahman S, Poulton J, Marchington D, Suomalainen A. Rahman S, et al. Am J Hum Genet. 2001 Jan;68(1):238-40. doi: 10.1086/316930. Epub 2000 Nov 20. Am J Hum Genet. 2001. PMID: 11085913 Free PMC article.

7

Early onset of complete heart block in Pearson syndrome.

Rahman S, Leonard JV. Rahman S, et al. J Inherit Metab Dis. 2000 Nov;23(7):753-4. doi: 10.1023/a:1005611803306. J Inherit Metab Dis. 2000. PMID: 11117437 No abstract available.

8

Mitochondrial DNA point mutation T9176C in Leigh syndrome.

Wilson CJ, Wood NW, Leonard JV, Surtees R, Rahman S. Wilson CJ, et al. Among authors: rahman s. J Child Neurol. 2000 Dec;15(12):830-3. doi: 10.1177/088307380001501218. J Child Neurol. 2000. PMID: 11198506

9

Neonatal presentation of coenzyme Q10 deficiency.

Rahman S, Hargreaves I, Clayton P, Heales S. Rahman S, et al. J Pediatr. 2001 Sep;139(3):456-8. doi: 10.1067/mpd.2001.117575. J Pediatr. 2001. PMID: 11562630

10

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: rahman s. J Inherit Metab Dis. 2002 Feb;25(1):7-16. doi: 10.1023/a:1015104910239. J Inherit Metab Dis. 2002. PMID: 12004863

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