Cameron J - Search Results

1

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. Among authors: cameron j. 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

2

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.

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

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

5

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

6

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. 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

7

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. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. Hum Genet. 2009. PMID: 19184109

8

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Cameron JM, et al. Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30. Mitochondrion. 2011. PMID: 20920610

9

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.

10

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

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