Robinson BH - 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: robinson bh. 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

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. Cameron JM, et al. Among authors: robinson bh. Eur J Paediatr Neurol. 2015 Sep;19(5):525-32. doi: 10.1016/j.ejpn.2015.05.002. Epub 2015 May 14. Eur J Paediatr Neurol. 2015. PMID: 26008862

3

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Am J Med Genet A. 2004 Nov 15;131(1):59-66. doi: 10.1002/ajmg.a.30287. Am J Med Genet A. 2004. PMID: 15384102

4

Pyruvate dehydrogenase phosphatase deficiency: orphan disease or an under-diagnosed condition?

Maj MC, Cameron JM, Robinson BH. Maj MC, et al. Among authors: robinson bh. Mol Cell Endocrinol. 2006 Apr 25;249(1-2):1-9. doi: 10.1016/j.mce.2006.02.003. Epub 2006 Mar 29. Mol Cell Endocrinol. 2006. PMID: 16574315 Review.

5

Respiratory chain analysis of skin fibroblasts in mitochondrial disease.

Cameron JM, Levandovskiy V, MacKay N, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Mitochondrion. 2004 Sep;4(5-6):387-94. doi: 10.1016/j.mito.2004.07.039. Epub 2004 Nov 2. Mitochondrion. 2004. PMID: 16120400

6

LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model.

Xu F, Addis JB, Cameron JM, Robinson BH. Xu F, et al. Among authors: robinson bh. Biochem J. 2012 Jan 1;441(1):275-83. doi: 10.1042/BJ20110985. Biochem J. 2012. PMID: 21880015

7

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.

Cameron JM, Janer A, Levandovskiy V, Mackay N, Rouault TA, Tong WH, Ogilvie I, Shoubridge EA, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Am J Hum Genet. 2011 Oct 7;89(4):486-95. doi: 10.1016/j.ajhg.2011.08.011. Epub 2011 Sep 22. Am J Hum Genet. 2011. PMID: 21944046 Free PMC article.

8

Computational identification of human mitochondrial proteins based on homology to yeast mitochondrially targeted proteins.

Cameron JM, Hurd T, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Bioinformatics. 2005 May 1;21(9):1825-30. doi: 10.1093/bioinformatics/bti280. Epub 2005 Jan 25. Bioinformatics. 2005. PMID: 15671119

9

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Siriwardena K, et al. Among authors: robinson bh. Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. Mol Genet Metab. 2013. PMID: 23266196

10

Complex II deficiency--a case report and review of the literature.

Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N, Robinson B, Raiman J. Jain-Ghai S, et al. Am J Med Genet A. 2013 Feb;161A(2):285-94. doi: 10.1002/ajmg.a.35714. Epub 2013 Jan 15. Am J Med Genet A. 2013. PMID: 23322652 Review.

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