Brown RM - Search Results

1

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK. Matthews PM, et al. Among authors: brown rm, brown gk. Ann Neurol. 1993 Jun;33(6):652-5. doi: 10.1002/ana.410330616. Ann Neurol. 1993. PMID: 8498846

2

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

3

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

4

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

5

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

Matthews PM, Brown RM, Otero LJ, Marchington DR, LeGris M, Howes R, Meadows LS, Shevell M, Scriver CR, Brown GK. Matthews PM, et al. Among authors: brown rm, brown gk. Brain. 1994 Jun;117 ( Pt 3):435-43. doi: 10.1093/brain/117.3.435. Brain. 1994. PMID: 8032855

6

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.

7

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

8

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

9

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

10

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

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