Head RA - Search Results

1

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.

Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK. Brown RM, et al. Among authors: head ra. Dev Med Child Neurol. 2006 Sep;48(9):756-60. doi: 10.1017/S0012162206001617. Dev Med Child Neurol. 2006. PMID: 16904023 Free article.

2

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK. Brown RM, et al. Among authors: head ra. Hum Genet. 2004 Jul;115(2):123-7. doi: 10.1007/s00439-004-1124-8. Epub 2004 May 11. Hum Genet. 2004. PMID: 15138885

3

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK. Head RA, et al. Ann Neurol. 2005 Aug;58(2):234-41. doi: 10.1002/ana.20550. Ann Neurol. 2005. PMID: 16049940

4

A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.

Brown RM, Head RA, Boubriak II, Leonard JV, Brown GK. Brown RM, et al. Among authors: head ra. Hum Mutat. 2003 Dec;22(6):496-7. doi: 10.1002/humu.9198. Hum Mutat. 2003. PMID: 14635113

5

Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Ramadan DG, Head RA, Al-Tawari A, Habeeb Y, Zaki M, Al-Ruqum F, Besley GT, Wraith JE, Brown RM, Brown GK. Ramadan DG, et al. Among authors: head ra. J Inherit Metab Dis. 2004;27(4):477-85. doi: 10.1023/B:BOLI.0000037336.91549.44. J Inherit Metab Dis. 2004. PMID: 15303005

6

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.

Head RA, de Goede CG, Newton RW, Walter JH, McShane MA, Brown RM, Brown GK. Head RA, et al. Dev Med Child Neurol. 2004 Oct;46(10):710-2. doi: 10.1017/s0012162204001197. Dev Med Child Neurol. 2004. PMID: 15473177 Free article.

7

Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome.

Head RA, Brown RM, Brown GK. Head RA, et al. J Inherit Metab Dis. 2004;27(1):57-65. doi: 10.1023/B:BOLI.0000016622.05609.b8. J Inherit Metab Dis. 2004. PMID: 14970746

8

GATA3 mutations found in breast cancers may be associated with aberrant nuclear localization, reduced transactivation and cell invasiveness.

Gaynor KU, Grigorieva IV, Allen MD, Esapa CT, Head RA, Gopinath P, Christie PT, Nesbit MA, Jones JL, Thakker RV. Gaynor KU, et al. Among authors: head ra. Horm Cancer. 2013 Jun;4(3):123-39. doi: 10.1007/s12672-013-0138-x. Epub 2013 Feb 22. Horm Cancer. 2013. PMID: 23435732 Free PMC article.

9

An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.

Bentley L, Esapa CT, Nesbit MA, Head RA, Evans H, Lath D, Scudamore CL, Hough TA, Podrini C, Hannan FM, Fraser WD, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV. Bentley L, et al. Among authors: head ra. Endocrinology. 2014 Mar;155(3):908-22. doi: 10.1210/en.2013-1247. Epub 2013 Dec 3. Endocrinology. 2014. PMID: 24302625 Free PMC article.

10

Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Nesbit MA, et al. Among authors: head ra. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253. N Engl J Med. 2013. PMID: 23802516 Free PMC article.

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