Showing results 8 to 27 of 30
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Issue Date | Title | Author(s) |
21-Nov-2018 | FAST-1 antisense RNA epigenetically alters FXN expression | Pook, M; Mikaeili, H; Sandi, M; Bayot, A; Al-Mahdawi, S |
2007 | The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues | Pook, MA; Al-Mahdawi, S; Mouro Pinto, R; Sandi, C; Trabzuni, D |
2013 | Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus | Al-Mahdawi, S; Sandi, C; Mouro Pinto, R; Pook, MA |
2006 | GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology | Pook, MA; Al-Mahdawi, S; Mouro Pinto, R |
2006 | 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 | Pook, MA; Clark, RM; De Biase, I; Al-Mahdawi, S; Malykhina, AP; Bidichandani, S |
2014 | Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models | Sandi, C; Sandi, M; Jassal, H; Ezzatizadeh, V; Anjomani-Virmouni, S; Al-Mahdawi, S; Pook, MA |
14-Nov-2019 | Genotype and Phenotype Characterisation of an Enhanced Friedreich Ataxia GAA Repeat Expansion Mouse Model Fxn_null::YG8s(GAA)>800 | Anjomani-Virmouni, S; Kalef-Ezra, E; Valle, A; Kleine, P; Oggianu, C; Hannana, T; Al-Mahdawi, S; Pook, M |
2015 | Genotype and phenotype characterisation of enhanced Friedreich’s ataxia GAA repeat expansion mouse models | Anjomani Virmouni, S; Sandi, C; Ezzatizadeh, V; Sandi, M; Al-Mahdawi, S; Pook, M; Anjomani-Virmouni, S |
2013 | Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells | Anjomani Virmouni, Sara |
5-Jun-2020 | HMTase Inhibitors as a Potential Epigenetic-based Therapeutic Approach for Friedreich’s Ataxia | Sherzai, M; Valle, A; Perry, N; Kalef-Ezra, E; Al-Mahdawi, S; Pook, M; Anjomani-Virmouni, S |
1-May-2015 | Identification of telomere dysfunction in Friedreich ataxia | Anjomani-Virmouni, S; Al-Mahdawi, S; Sandi, C; Yasaei, H; Slijepcevic, P; Pook, M |
10-Jun-2015 | Identification of telomere dysfunction in Friedreich ataxia. | Anjomani-Virmouni, S; Al-Mahdawi, S; Sandi, C; Yasaei, H; Giunti, P; Slijepcevic, P; Pook, M |
2012 | Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model | Tomassini, B; Arcuri, G; Fortuni, S; Sandi, C; Ezzatizadeh, V; Casali, C; Condò, I; Malisan, F; Al-Mahdawi, S; Pook, M; Testi, R |
21-Nov-2018 | Large interruptions of GAA repeat expansiopns mutations in Friedreich ataxia are very rare | Pook, M; Al-Mahdawi, S; Ging, H; Bayot, A; Cavalcanti, F; La Cognata, V; Cavallaro, S; Giunti, P |
15-Aug-2016 | Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts | Khonsari, H; Schneider, M; Al-Mahdawi, S; Chianea, YG; Themis, M; Parris, C; Pook, MA; Themis, M |
2012 | The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model | Ezzatizadeh, V; Pinto, RM; Sandi, C; Sandi, M; Al-Mahdawi, S; Te Riele, H; Pook, MA |
2014 | MutLα heterodimers modify the molecular phenotype of Friedreich ataxia | Ezzatizadeh, V; Sandi, C; Sandi, M; Anjomani-Virmouni, S; Al-Mahdawi, S; Pook, MA |
26-Jan-2023 | A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats | Kalef-Ezra, E; Edzeamey, FJ; Valle, A; Khonsari, H; Kleine, P; Oggianu, C; Al-Mahdawi, S; Pook, MA; Anjomani Virmouni, S |
2012 | Novel frataxin isoforms may contribute to the pathological mechanism of friedreich ataxia | Xia, H; Cao, Y; Dai, X; Marelja, Z; Zhou, D; Mo, R; Al-Mahdawi, S; Pook, MA; Leimkühler, S; Rouault, TA; Li, K |
2015 | 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 |