Al-Mahdawi S - Search Results

1

A novel missense mutation (L198R) in the Friedreich's ataxia gene.

Al-Mahdawi S, Pook M, Chamberlain S. Al-Mahdawi S, et al. Hum Mutat. 2000 Jul;16(1):95. doi: 10.1002/1098-1004(200007)16:1<95::AID-HUMU29>3.0.CO;2-E. Hum Mutat. 2000. PMID: 10874325 No abstract available.

2

Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis.

Pook MA, Al-Mahdawi S, Carroll CJ, Cossée M, Puccio H, Lawrence L, Clark P, Lowrie MB, Bradley JL, Cooper JM, Koenig M, Chamberlain S. Pook MA, et al. Neurogenetics. 2001 Oct;3(4):185-93. doi: 10.1007/s100480100118. Neurogenetics. 2001. PMID: 11714098

3

Friedreich's ataxia: a defect in signal transduction?

Carvajal JJ, Pook MA, Doudney K, Hillermann R, Wilkes D, al-Mahdawi S, Williamson R, Chamberlain S. Carvajal JJ, et al. Hum Mol Genet. 1995 Aug;4(8):1411-9. doi: 10.1093/hmg/4.8.1411. Hum Mol Genet. 1995. PMID: 7581382

4

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.

Cemal CK, Carroll CJ, Lawrence L, Lowrie MB, Ruddle P, Al-Mahdawi S, King RH, Pook MA, Huxley C, Chamberlain S. Cemal CK, et al. Hum Mol Genet. 2002 May 1;11(9):1075-94. doi: 10.1093/hmg/11.9.1075. Hum Mol Genet. 2002. PMID: 11978767

5

GAA repeat instability in Friedreich ataxia YAC transgenic mice.

Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, Pook M. Al-Mahdawi S, et al. Genomics. 2004 Aug;84(2):301-10. doi: 10.1016/j.ygeno.2004.04.003. Genomics. 2004. PMID: 15233994

6

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, Hughes S, Webster Z, Blake J, Cooper JM, King R, Pook MA. Al-Mahdawi S, et al. Genomics. 2006 Nov;88(5):580-90. doi: 10.1016/j.ygeno.2006.06.015. Epub 2006 Aug 17. Genomics. 2006. PMID: 16919418 Free PMC article.

7

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues.

Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M. Al-Mahdawi S, et al. Hum Mol Genet. 2008 Mar 1;17(5):735-46. doi: 10.1093/hmg/ddm346. Epub 2007 Nov 27. Hum Mol Genet. 2008. PMID: 18045775

8

MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

Ezzatizadeh V, Sandi C, Sandi M, Anjomani-Virmouni S, Al-Mahdawi S, Pook MA. Ezzatizadeh V, et al. PLoS One. 2014 Jun 27;9(6):e100523. doi: 10.1371/journal.pone.0100523. eCollection 2014. PLoS One. 2014. PMID: 24971578 Free PMC article.

9

A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.

Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, Pook MA. Anjomani Virmouni S, et al. Among authors: al mahdawi s. Dis Model Mech. 2015 Mar;8(3):225-35. doi: 10.1242/dmm.018952. Epub 2015 Feb 13. Dis Model Mech. 2015. PMID: 25681319 Free PMC article.

10

Effect of diazoxide on Friedreich ataxia models.

Santoro A, Anjomani Virmouni S, Paradies E, Villalobos Coa VL, Al-Mahdawi S, Khoo M, Porcelli V, Vozza A, Perrone M, Denora N, Taroni F, Merla G, Palmieri L, Pook MA, Marobbio CMT. Santoro A, et al. Among authors: al mahdawi s. Hum Mol Genet. 2018 Mar 15;27(6):992-1001. doi: 10.1093/hmg/ddy016. Hum Mol Genet. 2018. PMID: 29325032

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