Progressive gaa expansions in dorsal root ganglia of Friedreich's ataxia patients
De Biase, Irene, Rasmussen, Astrid, Endres, Dan, Al-Mahdawi, Sahar, Monticelli, Antonella, Cocozza, Sergio, Pook, Mark, Bidichandani, Sanjay I.
Published in Annals of neurology (01.01.2007)
Published in Annals of neurology (01.01.2007)
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A new FRDA mouse model [ Fxn null :YG8s(GAA) > 800] with more than 800 GAA repeats
Kalef-Ezra, Ester, Edzeamey, Fred Jonathan, Valle, Adamo, Khonsari, Hassan, Kleine, Paula, Oggianu, Carlo, Al-Mahdawi, Sahar, Pook, Mark A, Anjomani Virmouni, Sara
Published in Frontiers in neuroscience (26.01.2023)
Published in Frontiers in neuroscience (26.01.2023)
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Prolonged treatment with pimelic o -aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model
Sandi, Chiranjeevi, Pinto, Ricardo Mouro, Al-Mahdawi, Sahar, Ezzatizadeh, Vahid, Barnes, Glenn, Jones, Steve, Rusche, James R, Gottesfeld, Joel M, Pook, Mark A
Published in Neurobiology of disease (01.06.2011)
Published in Neurobiology of disease (01.06.2011)
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Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia
Anjomani Virmouni, Sara, Sandi, Chiranjeevi, Al-Mahdawi, Sahar, Pook, Mark A
Published in PloS one (08.09.2014)
Published in PloS one (08.09.2014)
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Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Al-Mahdawi, Sahar, Ging, Heather, Bayot, Aurelien, Cavalcanti, Francesca, La Cognata, Valentina, Cavallaro, Sebastiano, Giunti, Paola, Pook, Mark A
Published in Frontiers in cellular neuroscience (21.11.2018)
Published in Frontiers in cellular neuroscience (21.11.2018)
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MutLα heterodimers modify the molecular phenotype of Friedreich ataxia
Ezzatizadeh, Vahid, Sandi, Chiranjeevi, Sandi, Madhavi, Anjomani-Virmouni, Sara, Al-Mahdawi, Sahar, Pook, Mark A
Published in PloS one (27.06.2014)
Published in PloS one (27.06.2014)
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Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia
Xia, Haiyan, Cao, Yun, Dai, Xiaoman, Marelja, Zvonimir, Zhou, Di, Mo, Ran, Al-Mahdawi, Sahar, Pook, Mark A, Leimkühler, Silke, Rouault, Tracey A, Li, Kuanyu
Published in PloS one (17.10.2012)
Published in PloS one (17.10.2012)
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The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
Ezzatizadeh, Vahid, Pinto, Ricardo Mouro, Sandi, Chiranjeevi, Sandi, Madhavi, Al-Mahdawi, Sahar, te Riele, Hein, Pook, Mark A
Published in Neurobiology of disease (01.04.2012)
Published in Neurobiology of disease (01.04.2012)
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Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues
Bourn, Rebecka L, De Biase, Irene, Pinto, Ricardo Mouro, Sandi, Chiranjeevi, Al-Mahdawi, Sahar, Pook, Mark A, Bidichandani, Sanjay I
Published in PloS one (11.10.2012)
Published in PloS one (11.10.2012)
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A Drug Combination Rescues Frataxin-Dependent Neural and Cardiac Pathophysiology in FA Models
Abeti, Rosella, Jasoliya, Mittal, Al-Mahdawi, Sahar, Pook, Mark, Gonzalez-Robles, Cristina, Hui, Chun Kiu, Cortopassi, Gino, Giunti, Paola
Published in Frontiers in molecular biosciences (19.05.2022)
Published in Frontiers in molecular biosciences (19.05.2022)
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Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy
Sandi, Chiranjeevi, Al-Mahdawi, Sahar, Pook, Mark A
Published in Genetics Research International (01.01.2013)
Published in Genetics Research International (01.01.2013)
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The standard electrocardiogram as a screening test for hypertrophic cardiomyopathy
Ryan, Mark P., Cleland, John G.F., French, Julia A., Joshi, Jayshree, Choudhury, Lubna, Chojnowska, Lidia, Michalak, Eva, Al-Mahdawi, Sahar, Nihoyannopoulos, Petros, Oakley, Celia M.
Published in The American journal of cardiology (01.10.1995)
Published in The American journal of cardiology (01.10.1995)
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FAST-1 antisense RNA epigenetically alters FXN expression
Mikaeili, Hajar, Sandi, Madhavi, Bayot, Aurélien, Al-Mahdawi, Sahar, Pook, Mark A
Published in Scientific reports (21.11.2018)
Published in Scientific reports (21.11.2018)
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The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
Al-Mahdawi, Sahar, Pinto, Ricardo Mouro, Ismail, Ozama, Varshney, Dhaval, Lymperi, Stefania, Sandi, Chiranjeevi, Trabzuni, Daniah, Pook, Mark
Published in Human molecular genetics (01.03.2008)
Published in Human molecular genetics (01.03.2008)
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Effect of diazoxide on Friedreich ataxia models
Santoro, Antonella, Anjomani Virmouni, Sara, Paradies, Eleonora, Villalobos Coa, Valentina L, Al-Mahdawi, Sahar, Khoo, Mee, Porcelli, Vito, Vozza, Angelo, Perrone, Mara, Denora, Nunzio, Taroni, Franco, Merla, Giuseppe, Palmieri, Luigi, Pook, Mark A, Marobbio, Carlo M T
Published in Human molecular genetics (15.03.2018)
Published in Human molecular genetics (15.03.2018)
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