Robinson BH - Search Results

1

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

2

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

3

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

4

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

5

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.

6

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

7

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

8

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Chun K, et al. Among authors: robinson bh. Am J Hum Genet. 1995 Mar;56(3):558-69. Am J Hum Genet. 1995. PMID: 7887409 Free PMC article.

9

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Robinson BH. Chun K, et al. Among authors: robinson bh. Hum Mol Genet. 1993 Apr;2(4):449-54. doi: 10.1093/hmg/2.4.449. Hum Mol Genet. 1993. PMID: 8504306

10

Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.

Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH. Ling M, et al. Among authors: robinson bh. Hum Mol Genet. 1998 Mar;7(3):501-5. doi: 10.1093/hmg/7.3.501. Hum Mol Genet. 1998. PMID: 9467010

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