Cameron JM - 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. 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

Altered mitochondrial structure and motion dynamics in living cells with energy metabolism defects revealed by real time microscope imaging.

Pham NA, Richardson T, Cameron J, Chue B, Robinson BH. Pham NA, et al. Microsc Microanal. 2004 Apr;10(2):247-60. doi: 10.1017/S143192760404005X. Microsc Microanal. 2004. PMID: 15306050

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. 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

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

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

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: cameron jm. 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. 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

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Kramer KA, et al. Among authors: cameron jm. Clin Chem. 2005 Nov;51(11):2110-6. doi: 10.1373/clinchem.2005.050146. Epub 2005 Sep 1. Clin Chem. 2005. PMID: 16141288

8

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Debray FG, Lambert M, Vanasse M, Decarie JC, Cameron J, Levandovskiy V, Robinson BH, Mitchell GA. Debray FG, et al. Eur J Pediatr. 2006 Jul;165(7):462-6. doi: 10.1007/s00431-006-0104-5. Epub 2006 Mar 22. Eur J Pediatr. 2006. PMID: 16552546

9

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

Maj MC, Cameron JM, Robinson BH. Maj MC, et al. Among authors: cameron jm. 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.

10

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. 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

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