Hasil Pencarian - Mark A Pook

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  1. 1
    Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare

    Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare oleh Sahar Al-Mahdawi, Sahar Al-Mahdawi, Heather Ging, Aurelien Bayot, Francesca Cavalcanti, Valentina La Cognata, Sebastiano Cavallaro, Paola Giunti, Mark A. Pook, Mark A. Pook

    Diterbitkan 2018-11-01
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  2. 2
    Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.

    Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia. oleh Sara Anjomani Virmouni, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook

    Diterbitkan 2014-01-01
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  3. 3
    Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.

    Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. oleh Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Pook

    Diterbitkan 2013-01-01
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  4. 4
    Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases

    Comparative (Computational) Analysis of the DNA Methylation Status of Trinucleotide Repeat Expansion Diseases oleh Mohammadmersad Ghorbani, Simon J. E. Taylor, Mark A. Pook, Annette Payne

    Diterbitkan 2013-01-01
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  5. 5
    MutLα heterodimers modify the molecular phenotype of Friedreich ataxia.

    MutLα heterodimers modify the molecular phenotype of Friedreich ataxia. oleh Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook

    Diterbitkan 2014-01-01
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  6. 6
    Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.

    Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models. oleh Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook

    Diterbitkan 2014-01-01
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  7. 7
    A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia

    A novel GAA-repeat-expansion-based mouse model of Friedreich’s ataxia oleh Sara Anjomani Virmouni, Vahid Ezzatizadeh, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Yogesh Chutake, Mark A. Pook

    Diterbitkan 2015-03-01
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  8. 8
    Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia.

    Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia. oleh Lingli Li, Lucille Voullaire, Chiranjeevi Sandi, Mark A Pook, Panos A Ioannou, Martin B Delatycki, Joseph P Sarsero

    Diterbitkan 2013-01-01
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  9. 9
    The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

    The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model oleh Vahid Ezzatizadeh, Ricardo Mouro Pinto, Chiranjeevi Sandi, Madhavi Sandi, Sahar Al-Mahdawi, Hein te Riele, Mark A. Pook

    Diterbitkan 2012-04-01
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  10. 10
    Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues.

    Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. oleh Rebecka L Bourn, Irene De Biase, Ricardo Mouro Pinto, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook, Sanjay I Bidichandani

    Diterbitkan 2012-01-01
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  11. 11
    FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.

    FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia. oleh Yogesh K Chutake, Whitney N Costello, Christina C Lam, Aniruddha C Parikh, Tamara T Hughes, Michael G Michalopulos, Mark A Pook, Sanjay I Bidichandani

    Diterbitkan 2015-01-01
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  12. 12
    Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

    Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model oleh Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R. Rusche, Joel M. Gottesfeld, Mark A. Pook

    Diterbitkan 2011-06-01
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  13. 13
    Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia.

    Novel frataxin isoforms may contribute to the pathological mechanism of Friedreich ataxia. oleh Haiyan Xia, Yun Cao, Xiaoman Dai, Zvonimir Marelja, Di Zhou, Ran Mo, Sahar Al-Mahdawi, Mark A Pook, Silke Leimkühler, Tracey A Rouault, Kuanyu Li

    Diterbitkan 2012-01-01
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  14. 14
    Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner

    Interruptions of the <i>FXN</i> GAA Repeat Tract Delay the Age at Onset of Friedreich’s Ataxia in a Location Dependent Manner oleh Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti

    Diterbitkan 2021-07-01
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  15. 15
    A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats

    A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats oleh Ester Kalef-Ezra, Fred Jonathan Edzeamey, Adamo Valle, Adamo Valle, Adamo Valle, Hassan Khonsari, Paula Kleine, Carlo Oggianu, Sahar Al-Mahdawi, Mark A. Pook, Sara Anjomani Virmouni

    Diterbitkan 2023-01-01
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  16. 16
    Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach

    Frataxin Deficit Leads to Reduced Dynamics of Growth Cones in Dorsal Root Ganglia Neurons of Friedreich’s Ataxia YG8sR Model: A Multilinear Algebra Approach oleh Diana C. Muñoz-Lasso, Belén Mollá, Belén Mollá, Jhon J. Sáenz-Gamboa, Jhon J. Sáenz-Gamboa, Jhon J. Sáenz-Gamboa, Edwin Insuasty, Maria de la Iglesia-Vaya, Maria de la Iglesia-Vaya, Maria de la Iglesia-Vaya, Mark A. Pook, Federico V. Pallardó, Federico V. Pallardó, Federico V. Pallardó, Francesc Palau, Francesc Palau, Francesc Palau, Pilar Gonzalez-Cabo, Pilar Gonzalez-Cabo, Pilar Gonzalez-Cabo

    Diterbitkan 2022-06-01
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