|The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues|
S Al-Mahdawi, RM Pinto, O Ismail, D Varshney, S Lymperi, C Sandi, ...
Human molecular genetics 17 (5), 735-746, 2008
|GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology|
S Al-Mahdawi, RM Pinto, D Varshney, L Lawrence, MB Lowrie, S Hughes, ...
Genomics 88 (5), 580-590, 2006
|Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3|
X Chen, TS Tang, H Tu, O Nelson, M Pook, R Hammer, N Nukina, ...
Journal of Neuroscience 28 (48), 12713-12724, 2008
|YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit|
CK Cemal, CJ Carroll, L Lawrence, MB Lowrie, P Ruddle, S Al-Mahdawi, ...
Human molecular genetics 11 (9), 1075-1094, 2002
|Association of somatotrophinomas with loss of alleles on chromosome 11 and with gsp mutations.|
RV Thakker, MA Pook, C Wooding, M Boscaro, M Scanarini, RN Clayton
The Journal of clinical investigation 91 (6), 2815-2821, 1993
|Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients|
I De Biase, A Rasmussen, D Endres, S Al‐Mahdawi, A Monticelli, ...
Annals of neurology 61 (1), 55-60, 2007
|Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model|
C Sandi, RM Pinto, S Al-Mahdawi, V Ezzatizadeh, G Barnes, S Jones, ...
Neurobiology of disease 42 (3), 496-505, 2011
|Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model|
Y Shan, RA Schoenfeld, G Hayashi, E Napoli, T Akiyama, M Iodi Carstens, ...
Antioxidants & redox signaling 19 (13), 1481-1493, 2013
|Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11. 22|
MA Pook, O Wrong, C Wooding, AGW Norden, TG Feest, RV Thakker
Human molecular genetics 2 (12), 2129-2134, 1993
|GAA repeat instability in Friedreich ataxia YAC transgenic mice|
S Al-Mahdawi, RM Pinto, P Ruddle, C Carroll, Z Webster, M Pook
Genomics 84 (2), 301-310, 2004
|Mapping the gene causing X-linked recessive nephrolithiasis to Xp11. 22 by linkage studies.|
SJ Scheinman, MA Pook, C Wooding, JT Pang, PA Frymoyer, RV Thakker
The Journal of clinical investigation 91 (6), 2351-2357, 1993
|The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model|
RM Clark, I De Biase, AP Malykhina, S Al-Mahdawi, M Pook, ...
Human genetics 120 (5), 633-640, 2007
|Rescue of the Friedreich's ataxia knockout mouse by human YAC transgenesis|
MA Pook, S Al-Mahdawi, CJ Carroll, M Cossée, H Puccio, L Lawrence, ...
Neurogenetics 3 (4), 185-193, 2001
|Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life|
I De Biase, A Rasmussen, A Monticelli, S Al-Mahdawi, M Pook, ...
Genomics 90 (1), 1-5, 2007
|The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase|
JJ Carvajal, MA Pook, M dos Santos, K Doudney, R Hillermann, ...
Nature genetics 14 (2), 157-162, 1996
|The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases|
S Al-Mahdawi, SA Virmouni, MA Pook
Frontiers in neuroscience 8, 397, 2014
|Defining a metabolic phenotype in the brain of a transgenic mouse model of spinocerebellar ataxia 3|
JL Griffin, CK Cemal, MA Pook
Physiological genomics 16 (3), 334-340, 2004
|Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3|
PK Chan, R Torres, C Yandim, PP Law, S Khadayate, M Mauri, C Grosan, ...
Human molecular genetics 22 (13), 2662-2675, 2013
|'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia'|
R Abeti, MH Parkinson, IP Hargreaves, PR Angelova, C Sandi, MA Pook, ...
Cell death & disease 7 (5), e2237-e2237, 2016
|Animal and cellular models of Friedreich ataxia|
M Perdomini, A Hick, H Puccio, MA Pook
Journal of neurochemistry 126, 65-79, 2013