Arnulf H Koeppen, Susan C Michael, Mitchell D Knutson, David J Haile, Jiang Qian, Sonia Levi, Paolo Santambrogio, Michael D Garrick, Jacques B Lamarche. Acta Neuropathol 2007
Times Cited: 102
Times Cited: 102
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
V Campuzano, L Montermini, M D Moltò, L Pianese, M Cossée, F Cavalcanti, E Monros, F Rodius, F Duclos, A Monticelli, F Zara, J Cañizares, H Koutnikova, S I Bidichandani, C Gellera, A Brice, P Trouillas, G De Michele, A Filla, R De Frutos, F Palau, P I Patel, S Di Donato, J L Mandel, S Cocozza, M Koenig, M Pandolfo. Science 1996
Times Cited: 2046
Times Cited: 2046
Times cited
PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia.
Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina-Carbonero, Jordi Tamarit, Federico V Pallardó, Pilar Gonzalez-Cabo,[...]. Neurobiol Dis 2021
Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina-Carbonero, Jordi Tamarit, Federico V Pallardó, Pilar Gonzalez-Cabo,[...]. Neurobiol Dis 2021
Mitochondrial iron and calcium homeostasis in Friedreich ataxia.
Jordi Tamarit, Elena Britti, Fabien Delaspre, Marta Medina-Carbonero, Arabela Sanz-Alcázar, Elisa Cabiscol, Joaquim Ros. IUBMB Life 2021
Jordi Tamarit, Elena Britti, Fabien Delaspre, Marta Medina-Carbonero, Arabela Sanz-Alcázar, Elisa Cabiscol, Joaquim Ros. IUBMB Life 2021
Friedreich's Ataxia Frequency in a Large Cohort of Genetically Undetermined Ataxia Patients.
Alexander F Brown, Michael H Parkinson, Hector Garcia-Moreno, Ese Mudanohwo, Robyn Labrum, Mary Sweeney, Paola Giunti. Front Neurol 2021
Alexander F Brown, Michael H Parkinson, Hector Garcia-Moreno, Ese Mudanohwo, Robyn Labrum, Mary Sweeney, Paola Giunti. Front Neurol 2021
Current Drug Repurposing Strategies for Rare Neurodegenerative Disorders.
Sweta Shah, Marc Marie Dooms, Sofia Amaral-Garcia, Mariana Igoillo-Esteve. Front Pharmacol 2021
Sweta Shah, Marc Marie Dooms, Sofia Amaral-Garcia, Mariana Igoillo-Esteve. Front Pharmacol 2021
Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.
Mariana Igoillo-Esteve, Ana F Oliveira, Cristina Cosentino, Federica Fantuzzi, Céline Demarez, Sanna Toivonen, Amélie Hu, Satyan Chintawar, Miguel Lopes, Nathalie Pachera,[...]. JCI Insight 2020
Mariana Igoillo-Esteve, Ana F Oliveira, Cristina Cosentino, Federica Fantuzzi, Céline Demarez, Sanna Toivonen, Amélie Hu, Satyan Chintawar, Miguel Lopes, Nathalie Pachera,[...]. JCI Insight 2020
Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.
Deborah Chiabrando, Francesca Bertino, Emanuela Tolosano. Int J Mol Sci 2020
Deborah Chiabrando, Francesca Bertino, Emanuela Tolosano. Int J Mol Sci 2020
Cerebellar cognitive disorder parallels cerebellar motor symptoms in Friedreich ataxia.
Gilles Naeije, Myriam Rai, Nick Allaerts, Martin Sjogard, Xavier De Tiège, Massimo Pandolfo. Ann Clin Transl Neurol 2020
Gilles Naeije, Myriam Rai, Nick Allaerts, Martin Sjogard, Xavier De Tiège, Massimo Pandolfo. Ann Clin Transl Neurol 2020
Antioxidant Therapies and Oxidative Stress in Friedreich´s Ataxia: The Right Path or Just a Diversion?
Laura R Rodríguez, Tamara Lapeña, Pablo Calap-Quintana, María Dolores Moltó, Pilar Gonzalez-Cabo, Juan Antonio Navarro Langa. Antioxidants (Basel) 2020
Laura R Rodríguez, Tamara Lapeña, Pablo Calap-Quintana, María Dolores Moltó, Pilar Gonzalez-Cabo, Juan Antonio Navarro Langa. Antioxidants (Basel) 2020
Molecular Defects in Friedreich's Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities.
Frances M Smith, Daniel J Kosman. Front Mol Biosci 2020
Frances M Smith, Daniel J Kosman. Front Mol Biosci 2020
Longitudinal evaluation of iron concentration and atrophy in the dentate nuclei in friedreich ataxia.
Phillip G D Ward, Ian H Harding, Thomas G Close, Louise A Corben, Martin B Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F Egan. Mov Disord 2019
Phillip G D Ward, Ian H Harding, Thomas G Close, Louise A Corben, Martin B Delatycki, Elsdon Storey, Nellie Georgiou-Karistianis, Gary F Egan. Mov Disord 2019
The Role of Iron in Friedreich's Ataxia: Insights From Studies in Human Tissues and Cellular and Animal Models.
José Vicente Llorens, Sirena Soriano, Pablo Calap-Quintana, Pilar Gonzalez-Cabo, María Dolores Moltó. Front Neurosci 2019
José Vicente Llorens, Sirena Soriano, Pablo Calap-Quintana, Pilar Gonzalez-Cabo, María Dolores Moltó. Front Neurosci 2019
Assessment of cell-free levels of iron and copper in patients with Friedreich's ataxia.
Deepti Pathak, Achal Kumar Srivastava, Sheffali Gulati, Moganty R Rajeswari. Biometals 2019
Deepti Pathak, Achal Kumar Srivastava, Sheffali Gulati, Moganty R Rajeswari. Biometals 2019
Erythropoietin and Friedreich Ataxia: Time for a Reappraisal?
Sylvia Boesch, Elisabetta Indelicato. Front Neurosci 2019
Sylvia Boesch, Elisabetta Indelicato. Front Neurosci 2019
Mitochondrial dysfunction in the neuro-degenerative and cardio-degenerative disease, Friedreich's ataxia.
Shannon Chiang, Danuta S Kalinowski, Patric J Jansson, Des R Richardson, Michael L-H Huang. Neurochem Int 2018
Shannon Chiang, Danuta S Kalinowski, Patric J Jansson, Des R Richardson, Michael L-H Huang. Neurochem Int 2018
Cerebral abnormalities in Friedreich ataxia: A review.
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Nellie Georgiou-Karistianis. Neurosci Biobehav Rev 2018
Louisa P Selvadurai, Ian H Harding, Louise A Corben, Nellie Georgiou-Karistianis. Neurosci Biobehav Rev 2018
Drosophila melanogaster Models of Friedreich's Ataxia.
P Calap-Quintana, J A Navarro, J González-Fernández, M J Martínez-Sebastián, M D Moltó, J V Llorens. Biomed Res Int 2018
P Calap-Quintana, J A Navarro, J González-Fernández, M J Martínez-Sebastián, M D Moltó, J V Llorens. Biomed Res Int 2018
Impact of Drosophila Models in the Study and Treatment of Friedreich's Ataxia.
Véronique Monnier, Jose Vicente Llorens, Juan Antonio Navarro. Int J Mol Sci 2018
Véronique Monnier, Jose Vicente Llorens, Juan Antonio Navarro. Int J Mol Sci 2018
Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?
David Alsina, Rosa Purroy, Joaquim Ros, Jordi Tamarit. Pharmaceuticals (Basel) 2018
David Alsina, Rosa Purroy, Joaquim Ros, Jordi Tamarit. Pharmaceuticals (Basel) 2018
Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia.
Laura Ludovica Gramegna, Caterina Tonon, David Neil Manners, Antonella Pini, Rita Rinaldi, Stefano Zanigni, Claudio Bianchini, Stefania Evangelisti, Filippo Fortuna, Valerio Carelli,[...]. Cerebellum 2017
Laura Ludovica Gramegna, Caterina Tonon, David Neil Manners, Antonella Pini, Rita Rinaldi, Stefano Zanigni, Claudio Bianchini, Stefania Evangelisti, Filippo Fortuna, Valerio Carelli,[...]. Cerebellum 2017
Purkinje cell injury, structural plasticity and fusion in patients with Friedreich's ataxia.
Kevin C Kemp, Amelia J Cook, Juliana Redondo, Kathreena M Kurian, Neil J Scolding, Alastair Wilkins. Acta Neuropathol Commun 2016
Kevin C Kemp, Amelia J Cook, Juliana Redondo, Kathreena M Kurian, Neil J Scolding, Alastair Wilkins. Acta Neuropathol Commun 2016
'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich's ataxia'.
R Abeti, M H Parkinson, I P Hargreaves, P R Angelova, C Sandi, M A Pook, P Giunti, A Y Abramov. Cell Death Dis 2016
R Abeti, M H Parkinson, I P Hargreaves, P R Angelova, C Sandi, M A Pook, P Giunti, A Y Abramov. Cell Death Dis 2016
Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration.
Kuchuan Chen, Guang Lin, Nele A Haelterman, Tammy Szu-Yu Ho, Tongchao Li, Zhihong Li, Lita Duraine, Brett H Graham, Manish Jaiswal, Shinya Yamamoto,[...]. Elife 2016
Kuchuan Chen, Guang Lin, Nele A Haelterman, Tammy Szu-Yu Ho, Tongchao Li, Zhihong Li, Lita Duraine, Brett H Graham, Manish Jaiswal, Shinya Yamamoto,[...]. Elife 2016
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.
Inder Singh, Mohammed Faruq, Madakasira Vasantha Padma, Vinay Goyal, Madhuri Behari, Ashoo Grover, Mitali Mukerji, Achal K Srivastava. Mitochondrion 2015
Inder Singh, Mohammed Faruq, Madakasira Vasantha Padma, Vinay Goyal, Madhuri Behari, Ashoo Grover, Mitali Mukerji, Achal K Srivastava. Mitochondrion 2015
Brain iron homeostasis: from molecular mechanisms to clinical significance and therapeutic opportunities.
Neena Singh, Swati Haldar, Ajai K Tripathi, Katharine Horback, Joseph Wong, Deepak Sharma, Amber Beserra, Srinivas Suda, Charumathi Anbalagan, Som Dev,[...]. Antioxid Redox Signal 2014
Neena Singh, Swati Haldar, Ajai K Tripathi, Katharine Horback, Joseph Wong, Deepak Sharma, Amber Beserra, Srinivas Suda, Charumathi Anbalagan, Som Dev,[...]. Antioxid Redox Signal 2014
Molecular and clinical investigation of Iranian patients with Friedreich ataxia.
Mohammad Hossein Salehi, Massoud Houshmand, Omid Aryani, Behnam Kamalidehghan, Elham Khalili. Iran Biomed J 2014
Mohammad Hossein Salehi, Massoud Houshmand, Omid Aryani, Behnam Kamalidehghan, Elham Khalili. Iran Biomed J 2014
Iron homeostasis in peripheral nervous system, still a black box?
Sonia Levi, Carla Taveggia. Antioxid Redox Signal 2014
Sonia Levi, Carla Taveggia. Antioxid Redox Signal 2014
Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.
Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook. PLoS One 2014
Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook. PLoS One 2014
Mitochondrial iron-sulfur cluster dysfunction in neurodegenerative disease.
Grazia Isaya. Front Pharmacol 2014
Grazia Isaya. Front Pharmacol 2014
Dentate nuclei T2 relaxometry is a reliable neuroimaging marker in Friedreich's ataxia.
C Bonilha da Silva, F P G Bergo, A D'Abreu, F Cendes, I Lopes-Cendes, M C França. Eur J Neurol 2014
C Bonilha da Silva, F P G Bergo, A D'Abreu, F Cendes, I Lopes-Cendes, M C França. Eur J Neurol 2014
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation.
Alain Martelli, Hélène Puccio. Front Pharmacol 2014
Alain Martelli, Hélène Puccio. Front Pharmacol 2014
Epigenetic-based therapies for Friedreich ataxia.
Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani Virmouni, Sahar Al-Mahdawi, Mark A Pook. Front Genet 2014
Chiranjeevi Sandi, Madhavi Sandi, Sara Anjomani Virmouni, Sahar Al-Mahdawi, Mark A Pook. Front Genet 2014
Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich ataxia.
Sara Anjomani Virmouni, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook. PLoS One 2014
Sara Anjomani Virmouni, Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook. PLoS One 2014
Cerebellar pathology in Friedreich's ataxia: atrophied dentate nuclei with normal iron content.
K Solbach, O Kraff, M Minnerop, A Beck, L Schöls, E R Gizewski, M E Ladd, D Timmann. Neuroimage Clin 2014
K Solbach, O Kraff, M Minnerop, A Beck, L Schöls, E R Gizewski, M E Ladd, D Timmann. Neuroimage Clin 2014
Friedreich ataxia: neuropathology revised.
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
Arnulf H Koeppen, Joseph E Mazurkiewicz. J Neuropathol Exp Neurol 2013
Frataxin deficiency leads to defects in expression of antioxidants and Nrf2 expression in dorsal root ganglia of the Friedreich's ataxia YG8R mouse model.
Yuxi Shan, Robert A Schoenfeld, Genki Hayashi, Eleonora Napoli, Tasuku Akiyama, Mirela Iodi Carstens, Earl E Carstens, Mark A Pook, Gino A Cortopassi. Antioxid Redox Signal 2013
Yuxi Shan, Robert A Schoenfeld, Genki Hayashi, Eleonora Napoli, Tasuku Akiyama, Mirela Iodi Carstens, Earl E Carstens, Mark A Pook, Gino A Cortopassi. Antioxid Redox Signal 2013
Heterochromatinization induced by GAA-repeat hyperexpansion in Friedreich's ataxia can be reduced upon HDAC inhibition by vitamin B3.
Ping K Chan, Raul Torres, Cihangir Yandim, Pui P Law, Sanjay Khadayate, Marta Mauri, Crina Grosan, Nadine Chapman-Rothe, Paola Giunti, Mark Pook,[...]. Hum Mol Genet 2013
Ping K Chan, Raul Torres, Cihangir Yandim, Pui P Law, Sanjay Khadayate, Marta Mauri, Crina Grosan, Nadine Chapman-Rothe, Paola Giunti, Mark Pook,[...]. Hum Mol Genet 2013
Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy.
Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook. Genet Res Int 2013
Chiranjeevi Sandi, Sahar Al-Mahdawi, Mark A Pook. Genet Res Int 2013
Animal and cellular models of Friedreich ataxia.
Morgane Perdomini, Aurore Hick, Hélène Puccio, Mark A Pook. J Neurochem 2013
Morgane Perdomini, Aurore Hick, Hélène Puccio, Mark A Pook. J Neurochem 2013
A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.
Michele M P Lufino, Ana M Silva, Andrea H Németh, Javier Alegre-Abarrategui, Angela J Russell, Richard Wade-Martins. Hum Mol Genet 2013
Michele M P Lufino, Ana M Silva, Andrea H Németh, Javier Alegre-Abarrategui, Angela J Russell, Richard Wade-Martins. Hum Mol Genet 2013
Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Pook. PLoS One 2013
Sahar Al-Mahdawi, Chiranjeevi Sandi, Ricardo Mouro Pinto, Mark A Pook. PLoS One 2013
MRI findings in AOA2: Cerebellar atrophy and abnormal iron detection in dentate nucleus.
Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tilikete. Neuroimage Clin 2013
Solène Frismand, Hannoun Salem, Muriel Panouilleres, Denis Pélisson, Stéphane Jacobs, Alain Vighetto, François Cotton, Caroline Tilikete. Neuroimage Clin 2013
Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models.
Alain Martelli, Marek Napierala, Hélène Puccio. Dis Model Mech 2012
Alain Martelli, Marek Napierala, Hélène Puccio. Dis Model Mech 2012
Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review.
Louise A Corben, Nellie Georgiou-Karistianis, John L Bradshaw, Marguerite V Evans-Galea, Andrew J Churchyard, Martin B Delatycki. Adv Exp Med Biol 2012
Louise A Corben, Nellie Georgiou-Karistianis, John L Bradshaw, Marguerite V Evans-Galea, Andrew J Churchyard, Martin B Delatycki. Adv Exp Med Biol 2012
The neuropathology of late-onset Friedreich's ataxia.
Arnulf H Koeppen, Jennifer A Morral, Rodney D McComb, Paul J Feustel. Cerebellum 2011
Arnulf H Koeppen, Jennifer A Morral, Rodney D McComb, Paul J Feustel. Cerebellum 2011
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
Arnulf H Koeppen. J Neurol Sci 2011
Arnulf H Koeppen. J Neurol Sci 2011
Brain diffusion-weighted imaging in Friedreich's ataxia.
Giovanni Rizzo, Caterina Tonon, Maria Lucia Valentino, David Manners, Filippo Fortuna, Cinzia Gellera, Antonella Pini, Alessandro Ghezzo, Agostino Baruzzi, Claudia Testa,[...]. Mov Disord 2011
Giovanni Rizzo, Caterina Tonon, Maria Lucia Valentino, David Manners, Filippo Fortuna, Cinzia Gellera, Antonella Pini, Alessandro Ghezzo, Agostino Baruzzi, Claudia Testa,[...]. Mov Disord 2011
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model.
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Pook. Neurobiol Dis 2011
Chiranjeevi Sandi, Ricardo Mouro Pinto, Sahar Al-Mahdawi, Vahid Ezzatizadeh, Glenn Barnes, Steve Jones, James R Rusche, Joel M Gottesfeld, Mark A Pook. Neurobiol Dis 2011