Brown GK - Search Results

1

Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene.

Brown RM, Otero LJ, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Mol Genet. 1997 Aug;6(8):1361-7. doi: 10.1093/hmg/6.8.1361. Hum Mol Genet. 1997. PMID: 9259285

2

Pyruvate dehydrogenase E3 binding protein deficiency.

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

3

Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.

Lib MY, Brown RM, Brown GK, Marusich MF, Capaldi RA. Lib MY, et al. Among authors: brown rm, brown gk. J Histochem Cytochem. 2002 Jul;50(7):877-84. doi: 10.1177/002215540205000701. J Histochem Cytochem. 2002. PMID: 12070266

4

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Genet. 2004 Jul;115(2):123-7. doi: 10.1007/s00439-004-1124-8. Epub 2004 May 11. Hum Genet. 2004. PMID: 15138885

5

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK. Head RA, et al. Among authors: brown rm, brown gk. Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550. Ann Neurol. 2005. PMID: 16049940

6

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Ridout CK, Brown RM, Walter JH, Brown GK. Ridout CK, et al. Among authors: brown rm, brown gk. Hum Genet. 2008 Sep;124(2):187-93. doi: 10.1007/s00439-008-0538-0. Epub 2008 Aug 17. Hum Genet. 2008. PMID: 18709504

7

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. Among authors: brown rm, brown gk. 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.

8

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

9

Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.

Otero LJ, Brown RM, Brown GK. Otero LJ, et al. Among authors: brown rm, brown gk. Hum Mutat. 1998;12(2):114-21. doi: 10.1002/(SICI)1098-1004(1998)12:2<114::AID-HUMU6>3.0.CO;2-#. Hum Mutat. 1998. PMID: 9671272

10

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.

Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK. Brown RM, et al. Among authors: brown gk. Hum Mutat. 2003 Dec;22(6):496-7. doi: 10.1002/humu.9198. Hum Mutat. 2003. PMID: 14635113

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