Rahman S - Search Results

1

Can folic acid have a role in mitochondrial disorders?

Ormazabal A, Casado M, Molero-Luis M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S, Artuch R. Ormazabal A, et al. Among authors: rahman s. Drug Discov Today. 2015 Nov;20(11):1349-54. doi: 10.1016/j.drudis.2015.07.002. Epub 2015 Jul 14. Drug Discov Today. 2015. PMID: 26183769 Review.

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

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

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

7

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

8

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE.

Rahman S, Hargreaves IP. Rahman S, et al. Neurology. 2007 May 22;68(21):1872; author reply 1872; discussion 1872-3. doi: 10.1212/01.wnl.0000265356.98295.be. Neurology. 2007. PMID: 17515557 No abstract available.

9

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

Duncan AJ, Bitner-Glindzicz M, Meunier B, Costello H, Hargreaves IP, López LC, Hirano M, Quinzii CM, Sadowski MI, Hardy J, Singleton A, Clayton PT, Rahman S. Duncan AJ, et al. Among authors: rahman s. Am J Hum Genet. 2009 May;84(5):558-66. doi: 10.1016/j.ajhg.2009.03.018. Epub 2009 Apr 16. Am J Hum Genet. 2009. PMID: 19375058 Free PMC article.

10

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases.

Rahman S, Hanna MG. Rahman S, et al. J Neurol Neurosurg Psychiatry. 2009 Sep;80(9):943-53. doi: 10.1136/jnnp.2008.158279. J Neurol Neurosurg Psychiatry. 2009. PMID: 19684231 Free article. Review.

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