Robinson BH - Search Results

1

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.

2

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

3

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. Hum Genet. 2009. PMID: 19184109

4

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.

5

Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.

Maj MC, MacKay N, Levandovskiy V, Addis J, Baumgartner ER, Baumgartner MR, Robinson BH, Cameron JM. Maj MC, et al. Among authors: robinson bh. J Clin Endocrinol Metab. 2005 Jul;90(7):4101-7. doi: 10.1210/jc.2005-0123. Epub 2005 Apr 26. J Clin Endocrinol Metab. 2005. PMID: 15855260

6

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

7

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Am J Med Genet A. 2006 Jul 15;140(14):1542-52. doi: 10.1002/ajmg.a.31313. Am J Med Genet A. 2006. PMID: 16770810

8

Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency.

Cameron JM, Maj MC, Levandovskiy V, MacKay N, Shelton GD, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Mol Genet Metab. 2007 Jan;90(1):15-23. doi: 10.1016/j.ymgme.2006.09.011. Epub 2006 Nov 13. Mol Genet Metab. 2007. PMID: 17095275

9

Disruption of a mitochondrial RNA-binding protein gene results in decreased cytochrome b expression and a marked reduction in ubiquinol-cytochrome c reductase activity in mouse heart mitochondria.

Xu F, Ackerley C, Maj MC, Addis JB, Levandovskiy V, Lee J, Mackay N, Cameron JM, Robinson BH. Xu F, et al. Among authors: robinson bh. Biochem J. 2008 Nov 15;416(1):15-26. doi: 10.1042/BJ20080847. Biochem J. 2008. PMID: 18729827

10

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts.

Cameron JM, Levandovskiy V, MacKay N, Utgikar R, Ackerley C, Chiasson D, Halliday W, Raiman J, Robinson BH. Cameron JM, et al. Among authors: robinson bh. Mol Genet Metab. 2009 Dec;98(4):378-82. doi: 10.1016/j.ymgme.2009.07.012. Epub 2009 Jul 26. Mol Genet Metab. 2009. PMID: 19699667

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