Brown RM - 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

Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.

Dahl HH, Maragos C, Brown RM, Hansen LL, Brown GK. Dahl HH, et al. Among authors: brown rm, brown gk. Am J Hum Genet. 1990 Aug;47(2):286-93. Am J Hum Genet. 1990. PMID: 2378353 Free PMC article.

9

Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.

Matthews PM, Brown RM, Otero L, Marchington D, Leonard JV, Brown GK. Matthews PM, et al. Among authors: brown rm, brown gk. Neurology. 1993 Oct;43(10):2025-30. doi: 10.1212/wnl.43.10.2025. Neurology. 1993. PMID: 7692352

10

Pyruvate dehydrogenase deficiency.

Brown GK, Otero LJ, LeGris M, Brown RM. Brown GK, et al. Among authors: brown rm. J Med Genet. 1994 Nov;31(11):875-9. doi: 10.1136/jmg.31.11.875. J Med Genet. 1994. PMID: 7853374 Free PMC article. Review. No abstract available.

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