Rahman S - Search Results

1

TRNT1 deficiency: clinical, biochemical and molecular genetic features.

Wedatilake Y, Niazi R, Fassone E, Powell CA, Pearce S, Plagnol V, Saldanha JW, Kleta R, Chong WK, Footitt E, Mills PB, Taanman JW, Minczuk M, Clayton PT, Rahman S. Wedatilake Y, et al. Among authors: rahman s. Orphanet J Rare Dis. 2016 Jul 2;11(1):90. doi: 10.1186/s13023-016-0477-0. Orphanet J Rare Dis. 2016. PMID: 27370603 Free PMC article.

2

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.

3

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

4

A SURF1 gene mutation presenting as isolated leukodystrophy.

Rahman S, Brown RM, Chong WK, Wilson CJ, Brown GK. Rahman S, et al. Ann Neurol. 2001 Jun;49(6):797-800. doi: 10.1002/ana.1060. Ann Neurol. 2001. PMID: 11409433

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

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations.

Wolf NI, Rahman S, Clayton PT, Zschocke J. Wolf NI, et al. Among authors: rahman s. Eur J Pediatr. 2003 Apr;162(4):279-80. doi: 10.1007/s00431-002-1110-x. Epub 2003 Feb 11. Eur J Pediatr. 2003. PMID: 12647205

8

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

9

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

10

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH. Taanman JW, et al. Among authors: rahman s. Hum Mutat. 2009 Feb;30(2):248-54. doi: 10.1002/humu.20852. Hum Mutat. 2009. PMID: 18828154

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