Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits H Puccio, D Simon, M Cossée, P Criqui-Filipe, F Tiziano, J Melki, ... Nature genetics 27 (2), 181-186, 2001 | 824 | 2001 |
Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation M Cossée, H Puccio, A Gansmuller, H Koutnikova, A Dierich, M LeMeur, ... Human molecular genetics 9 (8), 1219-1226, 2000 | 426 | 2000 |
Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine H Lapillonne, L Kobari, C Mazurier, P Tropel, MC Giarratana, ... Haematologica 95 (10), 1651, 2010 | 314 | 2010 |
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs HM Sadoulet-Puccio, M Rajala, LM Kunkel Proceedings of the National Academy of Sciences 94 (23), 12413-12418, 1997 | 277 | 1997 |
Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex S Schmucker, A Martelli, F Colin, A Page, M Wattenhofer-Donzé, ... PloS one 6 (1), e16199, 2011 | 273 | 2011 |
Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia M Perdomini, B Belbellaa, L Monassier, L Reutenauer, N Messaddeq, ... Nature medicine 20 (5), 542-547, 2014 | 248 | 2014 |
Friedreich ataxia: the oxidative stress paradox H Seznec, D Simon, C Bouton, L Reutenauer, A Hertzog, P Golik, ... Human molecular genetics 14 (4), 463-474, 2005 | 244 | 2005 |
Disabled early recruitment of antioxidant defenses in Friedreich’s ataxia K Chantrel-Groussard, V Geromel, H Puccio, M Koenig, A Munnich, ... Human molecular genetics 10 (19), 2061-2067, 2001 | 238 | 2001 |
Friedreich ataxia mouse models with progressive cerebellar and sensory ataxia reveal autophagic neurodegeneration in dorsal root ganglia D Simon, H Seznec, A Gansmuller, N Carelle, P Weber, D Metzger, ... Journal of Neuroscience 24 (8), 1987-1995, 2004 | 226 | 2004 |
Frataxin: a protein in search for a function A Pastore, H Puccio Journal of neurochemistry 126, 43-52, 2013 | 221 | 2013 |
Recent advances in the molecular pathogenesis of Friedreich ataxia H Puccio, M Kœnig Human molecular genetics 9 (6), 887-892, 2000 | 187 | 2000 |
The in vivo mitochondrial two-step maturation of human frataxin S Schmucker, M Argentini, N Carelle-Calmels, A Martelli, H Puccio Human molecular genetics 17 (22), 3521-3531, 2008 | 184 | 2008 |
Frataxin deficiency in pancreatic islets causes diabetes due to loss of β cell mass M Ristow, H Mulder, D Pomplun, TJ Schulz, K Müller-Schmehl, A Krause, ... The Journal of clinical investigation 112 (4), 527-534, 2003 | 178 | 2003 |
Mammalian Frataxin Controls Sulfur Production and Iron Entry during de Novo Fe4S4 Cluster Assembly F Colin, A Martelli, M Clémancey, JM Latour, S Gambarelli, L Zeppieri, ... Journal of the American Chemical Society 135 (2), 733-740, 2013 | 176 | 2013 |
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia A Hick, M Wattenhofer-Donzé, S Chintawar, P Tropel, JP Simard, ... Disease models & mechanisms 6 (3), 608-621, 2013 | 173 | 2013 |
Differential membrane localization and intermolecular associations of α-dystrobrevin isoforms in skeletal muscle MF Peters, HM Sadoulet-Puccio, R Mark Grady, NR Kramarcy, LM Kunkel, ... The Journal of cell biology 142 (5), 1269-1278, 1998 | 173 | 1998 |
Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia H Seznec, D Simon, L Monassier, P Criqui-Filipe, A Gansmuller, P Rustin, ... Human molecular genetics 13 (10), 1017-1024, 2004 | 162 | 2004 |
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches S Schmucker, H Puccio Human Molecular Genetics 19 (R1), R103-R110, 2010 | 161 | 2010 |
Dysregulation of cellular iron metabolism in Friedreich ataxia: from primary iron-sulfur cluster deficit to mitochondrial iron accumulation A Martelli, H Puccio Frontiers in Pharmacology 5, 130, 2014 | 156 | 2014 |
Dystrophin and its isoforms HM Sadoulet‐Puccio, LM Kunkel Brain Pathology 6 (1), 25-35, 1996 | 155 | 1996 |