Brown RM - Search Results

1

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

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

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

4

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

5

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.

6

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

7

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.

8

Prenatal diagnosis of pyruvate dehydrogenase E1 alpha subunit deficiency.

Brown RM, Brown GK. Brown RM, et al. Among authors: brown gk. Prenat Diagn. 1994 Jun;14(6):435-41. doi: 10.1002/pd.1970140604. Prenat Diagn. 1994. PMID: 7937579

9

X chromosome inactivation and the diagnosis of X linked disease in females.

Brown RM, Brown GK. Brown RM, et al. Among authors: brown gk. J Med Genet. 1993 Mar;30(3):177-84. doi: 10.1136/jmg.30.3.177. J Med Genet. 1993. PMID: 8097254 Free PMC article.

10

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

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