Gold WA - Search Results

1

Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype.

Gold WA, Williamson SL, Kaur S, Hargreaves IP, Land JM, Pelka GJ, Tam PP, Christodoulou J. Gold WA, et al. Mitochondrion. 2014 Mar;15:10-7. doi: 10.1016/j.mito.2014.02.012. Epub 2014 Mar 6. Mitochondrion. 2014. PMID: 24613463

2

A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain.

Williamson SL, Giudici L, Kilstrup-Nielsen C, Gold W, Pelka GJ, Tam PP, Grimm A, Prodi D, Landsberger N, Christodoulou J. Williamson SL, et al. Hum Genet. 2012 Feb;131(2):187-200. doi: 10.1007/s00439-011-1058-x. Epub 2011 Jul 12. Hum Genet. 2012. PMID: 21748340

3

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.

4

MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors.

Gold WA, Lacina TA, Cantrill LC, Christodoulou J. Gold WA, et al. J Mol Med (Berl). 2015 Jan;93(1):63-72. doi: 10.1007/s00109-014-1202-x. Epub 2014 Sep 12. J Mol Med (Berl). 2015. PMID: 25209898

5

Utility of next-generation sequencing technologies for the efficient genetic resolution of haematological disorders.

Zhang J, Barbaro P, Guo Y, Alodaib A, Li J, Gold W, Adès L, Keating BJ, Xu X, Teo J, Hakonarson H, Christodoulou J. Zhang J, et al. Clin Genet. 2016 Feb;89(2):163-72. doi: 10.1111/cge.12573. Epub 2015 Mar 22. Clin Genet. 2016. PMID: 25703294

6

The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome.

Gold WA, Christodoulou J. Gold WA, et al. Front Cell Neurosci. 2015 Jul 14;9:266. doi: 10.3389/fncel.2015.00266. eCollection 2015. Front Cell Neurosci. 2015. PMID: 26236194 Free PMC article. Review.

7

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.

Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake NJ, Gold WA, Riley LG, Thorburn DR, Keating B, Xu X, Hakonarson H, Christodoulou J. Nafisinia M, et al. Among authors: gold wa. JIMD Rep. 2017;32:117-124. doi: 10.1007/8904_2016_541. Epub 2016 Jun 26. JIMD Rep. 2017. PMID: 27344648 Free PMC article.

8

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease.

Alodaib A, Sobreira N, Gold WA, Riley LG, Van Bergen NJ, Wilson MJ, Bennetts B, Thorburn DR, Boehm C, Christodoulou J. Alodaib A, et al. Among authors: gold wa. Eur J Hum Genet. 2017 Jan;25(1):79-84. doi: 10.1038/ejhg.2016.128. Epub 2016 Oct 19. Eur J Hum Genet. 2017. PMID: 27759031 Free PMC article.

9

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC. Gold WA, et al. Am J Med Genet A. 2017 Aug;173(8):2246-2250. doi: 10.1002/ajmg.a.38292. Epub 2017 Jun 2. Am J Med Genet A. 2017. PMID: 28574218

10

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Nafisinia M, Riley LG, Gold WA, Bhattacharya K, Broderick CR, Thorburn DR, Simons C, Christodoulou J. Nafisinia M, et al. Among authors: gold wa. PLoS One. 2017 Jun 8;12(6):e0178125. doi: 10.1371/journal.pone.0178125. eCollection 2017. PLoS One. 2017. PMID: 28594869 Free PMC article.

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