| 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 | 318 | 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 | 272 | 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 | 260 | 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 | 236 | 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 | 172 | 1993 |
| 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 | 157 | 2013 |
| 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 | 143 | 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 | 133 | 2011 |
| 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 | 122 | 1993 |
| '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 | 118 | 2016 |
| 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 | 112 | 2004 |
| The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseases S Al-Mahdawi, SA Virmouni, MA Pook Frontiers in neuroscience 8, 397, 2014 | 110 | 2014 |
| 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 | 107 | 2007 |
| 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 | 102 | 1993 |
| 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 | 97 | 2013 |
| 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 … RM Clark, I De Biase, AP Malykhina, S Al-Mahdawi, M Pook, ... Human genetics 120, 633-640, 2007 | 96 | 2007 |
| Animal and cellular models of Friedreich ataxia M Perdomini, A Hick, H Puccio, MA Pook Journal of neurochemistry 126, 65-79, 2013 | 95 | 2013 |
| The Friedreich's ataxia gene encodes a novel phosphatidylinositol–4–phosphate 5–kinase JJ Carvajal, MA Pook, M Santos, K Doudney, R Hillermann, S Minogue, ... Nature genetics 14 (2), 157-162, 1996 | 92 | 1996 |
| 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, 185-193, 2001 | 90 | 2001 |
| Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia S Sahdeo, BD Scott, MZ McMackin, M Jasoliya, B Brown, H Wulff, ... Human molecular genetics 23 (25), 6848-6862, 2014 | 84 | 2014 |
