Brown GK - Search Results

1

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Baker PR 2nd, et al. Among authors: brown rm, brown gk. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. Brain. 2014. PMID: 24334290 Free PMC article.

2

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. Oláhová M, et al. Among authors: brown rm, brown gk. Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. Brain. 2015. PMID: 26510951 Free PMC article.

3

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

4

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

5

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

6

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

7

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.

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

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

10

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

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