Rahman S - Search Results

1

New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.

Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG. Pulkes T, et al. Among authors: rahman s. Neuromuscul Disord. 2005 May;15(5):364-71. doi: 10.1016/j.nmd.2005.01.006. Neuromuscul Disord. 2005. PMID: 15833431

2

UK centres are not following the Royal College of Pathologists' recommendations for storage of Guthrie cards: a national policy is needed.

Rahman S, Emery A, Poulton J. Rahman S, et al. J Med Genet. 1998 Mar;35(3):263. doi: 10.1136/jmg.35.3.263. J Med Genet. 1998. PMID: 9541119 Free PMC article. No abstract available.

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

Diagnosis of mitochondrial DNA depletion syndromes.

Rahman S, Poulton J. Rahman S, et al. Arch Dis Child. 2009 Jan;94(1):3-5. doi: 10.1136/adc.2008.147983. Arch Dis Child. 2009. PMID: 19103785 No abstract available.

8

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.

9

Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease.

Limongelli G, Tome-Esteban M, Dejthevaporn C, Rahman S, Hanna MG, Elliott PM. Limongelli G, et al. Among authors: rahman s. Eur J Heart Fail. 2010 Feb;12(2):114-21. doi: 10.1093/eurjhf/hfp186. Eur J Heart Fail. 2010. PMID: 20083621 Free article.

10

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

Fratter C, Gorman GS, Stewart JD, Buddles M, Smith C, Evans J, Seller A, Poulton J, Roberts M, Hanna MG, Rahman S, Omer SE, Klopstock T, Schoser B, Kornblum C, Czermin B, Lecky B, Blakely EL, Craig K, Chinnery PF, Turnbull DM, Horvath R, Taylor RW. Fratter C, et al. Among authors: rahman s. Neurology. 2010 May 18;74(20):1619-26. doi: 10.1212/WNL.0b013e3181df099f. Neurology. 2010. PMID: 20479361 Free PMC article.

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