Browsing by Subject Friedreich ataxia

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Showing results 1 to 18 of 18
Issue DateTitleAuthor(s)
2015Characterization of the retinal pigment epithelium in Friedreich ataxiaCrombie, DE; Van Bergen, N; Davidson, KC; Anjomani Virmouni, S; Mckelvie, PA; Chrysostomou, V; Conquest, A; Corben, LA; Pook, MA; Kulkarni, T; Trounce, IA; Pera, MF; Delatycki, MB; Pébay, A
8-Jan-2018Effect of diazoxide on Friedreich ataxia modelsSantoro, A; Virmouni, SA; Paradies, E; Coa, VLV; Al-Mahdawi, S; Khoo, M; Porcelli, V; Vozza, A; Perrone, M; Denora, N; Taroni, F; Merla, G; Palmieri, L; Pook, MA; Marobbio, CMT
2014The emerging role of 5-hydroxymethylcytosine in neurodegenerative diseasesAl-Mahdawi, S; Virmouni, SA; Pook, MA
2014Epigenetic-based therapies for Friedreich ataxiaSandi, C; Sandi, M; Virmouni, SA; Al-Mahdawi, S; Pook, MA
21-Nov-2018FAST-1 antisense RNA epigenetically alters FXN expressionPook, M; Mikaeili, H; Sandi, M; Bayot, A; Al-Mahdawi, S
2007The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissuesPook, MA; Al-Mahdawi, S; Mouro Pinto, R; Sandi, C; Trabzuni, D
2006GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathologyPook, MA; Al-Mahdawi, S; Mouro Pinto, R
2006The 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 modelPook, MA; Clark, RM; De Biase, I; Al-Mahdawi, S; Malykhina, AP; Bidichandani, S
2013Genotype and phenotype characterisation of Friedreich ataxia mouse models and cellsAnjomani Virmouni, Sara
5-Jun-2020HMTase Inhibitors as a Potential Epigenetic-based Therapeutic Approach for Friedreich’s AtaxiaSherzai, M; Valle, A; Perry, N; Kalef-Ezra, E; Al-Mahdawi, S; Pook, M; Anjomani-Virmouni, S
1-May-2015Identification of telomere dysfunction in Friedreich ataxiaAnjomani-Virmouni, S; Al-Mahdawi, S; Sandi, C; Yasaei, H; Slijepcevic, P; Pook, M
10-Jun-2015Identification of telomere dysfunction in Friedreich ataxia.Anjomani-Virmouni, S; Al-Mahdawi, S; Sandi, C; Yasaei, H; Giunti, P; Slijepcevic, P; Pook, M
2012Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia modelTomassini, B; Arcuri, G; Fortuni, S; Sandi, C; Ezzatizadeh, V; Casali, C; Condò, I; Malisan, F; Al-Mahdawi, S; Pook, M; Testi, R
2010Investigating the pathogenesis and therapy of Friedreich AtaxiaSandi, Chiranjeevi
2012The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse modelEzzatizadeh, V; Pinto, RM; Sandi, C; Sandi, M; Al-Mahdawi, S; Te Riele, H; Pook, MA
2013Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxiaLi, L; Voullaire, L; Sandi, C; Pook, MA; Ioannou, PA; Delatycki, MB; Sarsero, JP
2011Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse modelSandi, C; Pinto, RM; Al-Mahdawi, S; Ezzatizadeh, V; Barnes, G; Jones, S; Rusche, JR; Gottesfeld, JM; Pook, MA
2007Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout lifePook, M A; De Biase, I; Ramussen, A; Monticelli, A; Al-Mahdawi, S; Cocozza, S; Bidichandani, S