Williamson SL - 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. Among authors: williamson sl. Mitochondrion. 2014 Mar;15:10-7. doi: 10.1016/j.mito.2014.02.012. Epub 2014 Mar 6. Mitochondrion. 2014. PMID: 24613463

2

Rett syndrome: new clinical and molecular insights.

Williamson SL, Christodoulou J. Williamson SL, et al. Eur J Hum Genet. 2006 Aug;14(8):896-903. doi: 10.1038/sj.ejhg.5201580. Eur J Hum Genet. 2006. PMID: 16865103 Review.

3

Deletion of protein tyrosine phosphatase, non-receptor type 4 (PTPN4) in twins with a Rett syndrome-like phenotype.

Williamson SL, Ellaway CJ, Peters GB, Pelka GJ, Tam PP, Christodoulou J. Williamson SL, et al. Eur J Hum Genet. 2015 Sep;23(9):1171-5. doi: 10.1038/ejhg.2014.249. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424712 Free PMC article.

4

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J. Weaving LS, et al. Among authors: williamson sl. Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18. Am J Hum Genet. 2004. PMID: 15492925 Free PMC article.

5

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.

Gibson JH, Williamson SL, Arbuckle S, Christodoulou J. Gibson JH, et al. Among authors: williamson sl. Brain Dev. 2005 Jun;27(4):266-70. doi: 10.1016/j.braindev.2004.07.002. Brain Dev. 2005. PMID: 15862188

6

Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.

Watson CM, Pelka GJ, Radziewic T, Shahbazian MD, Christodoulou J, Williamson SL, Tam PP. Watson CM, et al. Among authors: williamson sl. Hum Mol Genet. 2005 Jul 1;14(13):1851-61. doi: 10.1093/hmg/ddi191. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888476

7

Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain.

Gibson JH, Slobedman B, K N H, Williamson SL, Minchenko D, El-Osta A, Stern JL, Christodoulou J. Gibson JH, et al. Among authors: williamson sl. BMC Neurosci. 2010 Apr 26;11:53. doi: 10.1186/1471-2202-11-53. BMC Neurosci. 2010. PMID: 20420693 Free PMC article.

8

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

9

Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype.

Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki M, Thompson EM, Laing N, Christodoulou J. Weaving LS, et al. Among authors: williamson sl. Am J Med Genet A. 2003 Apr 15;118A(2):103-14. doi: 10.1002/ajmg.a.10053. Am J Med Genet A. 2003. PMID: 12655490

10

Rett syndrome in Australia: a review of the epidemiology.

Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H. Laurvick CL, et al. J Pediatr. 2006 Mar;148(3):347-52. doi: 10.1016/j.jpeds.2005.10.037. J Pediatr. 2006. PMID: 16615965

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