Brown R - Search Results

1

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: brown g, brown r. 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

2

Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome.

Brown RM, Brown GK. Brown RM, et al. Among authors: brown gk. J Inherit Metab Dis. 1996;19(6):752-60. doi: 10.1007/BF01799168. J Inherit Metab Dis. 1996. PMID: 8982948

3

A SURF1 gene mutation presenting as isolated leukodystrophy.

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

4

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.

Head RA, Brown RM, Brown GK. Head RA, et al. Among authors: brown rm, brown gk. J Inherit Metab Dis. 2004;27(1):57-65. doi: 10.1023/B:BOLI.0000016622.05609.b8. J Inherit Metab Dis. 2004. PMID: 14970746

5

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M, Brown G. Rankin J, et al. Among authors: brown g, brown r. Am J Med Genet A. 2010 Aug;152A(8):2079-84. doi: 10.1002/ajmg.a.33531. Am J Med Genet A. 2010. PMID: 20635367

6

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.

Horga A, Woodward CE, Mills A, Pareés I, Hargreaves IP, Brown RM, Bugiardini E, Brooks T, Manole A, Remzova E, Rahman S, Reilly MM, Houlden H, Sweeney MG, Brown GK, Polke JM, Gago F, Parton MJ, Pitceathly RDS, Hanna MG. Horga A, et al. Hum Genet. 2019 Dec;138(11-12):1313-1322. doi: 10.1007/s00439-019-02075-9. Epub 2019 Oct 31. Hum Genet. 2019. PMID: 31673819 Free PMC article.

7

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.

Dahl HH, Hansen LL, Brown RM, Danks DM, Rogers JG, Brown GK. Dahl HH, et al. Among authors: brown rm, brown gk. J Inherit Metab Dis. 1992;15(6):835-47. doi: 10.1007/BF01800219. J Inherit Metab Dis. 1992. PMID: 1293379

8

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Ramadan DG, Head RA, Al-Tawari A, Habeeb Y, Zaki M, Al-Ruqum F, Besley GT, Wraith JE, Brown RM, Brown GK. Ramadan DG, et al. Among authors: brown rm, brown gk. J Inherit Metab Dis. 2004;27(4):477-85. doi: 10.1023/B:BOLI.0000037336.91549.44. J Inherit Metab Dis. 2004. PMID: 15303005

9

Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.

Leary SC, Antonicka H, Sasarman F, Weraarpachai W, Cobine PA, Pan M, Brown GK, Brown R, Majewski J, Ha KC, Rahman S, Shoubridge EA. Leary SC, et al. Among authors: brown r, brown gk. Hum Mutat. 2013 Oct;34(10):1366-70. doi: 10.1002/humu.22385. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23878101

10

Pyruvate dehydrogenase E3 binding protein deficiency.

Brown RM, Head RA, Brown GK. Brown RM, et al. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub 2002 Jan 22. Hum Genet. 2002. PMID: 11935326

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