| Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy A Pujol, I Ferrer, C Camps, E Metzger, C Hindelang, N Callizot, M Ruiz, ... Human molecular genetics 13 (23), 2997-3006, 2004 | 225 | 2004 |
| Antioxidants halt axonal degeneration in a mouse model of X‐adrenoleukodystrophy J López‐Erauskin, S Fourcade, J Galino, M Ruiz, A Schlüter, A Naudi, ... Annals of neurology 70 (1), 84-92, 2011 | 142 | 2011 |
| Oxidative stress underlying axonal degeneration in adrenoleukodystrophy: a paradigm for multifactorial neurodegenerative diseases? E Galea, N Launay, M Portero-Otin, M Ruiz, R Pamplona, P Aubourg, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (9 …, 2012 | 123 | 2012 |
| Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy S Fourcade, M Ruiz, C Guilera, E Hahnen, L Brichta, A Naudi, ... Human molecular genetics 19 (10), 2005-2014, 2010 | 112 | 2010 |
| Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophy J López-Erauskin, J Galino, M Ruiz, JM Cuezva, I Fabregat, D Cacabelos, ... Human Molecular Genetics 22 (16), 3296-3305, 2013 | 111 | 2013 |
| A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis S Fourcade, M Ruiz, C Camps, A Schluter, SM Houten, PAW Mooyer, ... American Journal of Physiology-Endocrinology and Metabolism 296 (1), E211-E221, 2009 | 109 | 2009 |
| Epigenome-wide association study of COVID-19 severity with respiratory failure MC de Moura, V Davalos, L Planas-Serra, D Alvarez-Errico, C Arribas, ... EBioMedicine 66, 2021 | 104 | 2021 |
| Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy J Galino, M Ruiz, S Fourcade, A Schlüter, J López-Erauskin, C Guilera, ... Antioxidants & redox signaling 15 (8), 2095-2107, 2011 | 95 | 2011 |
| Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophy L Morato, J Galino, M Ruiz, NY Calingasan, AA Starkov, M Dumont, ... Brain 136 (8), 2432-2443, 2013 | 78 | 2013 |
| Mitochondrial dysfunction in central nervous system white matter disorders L Morató, E Bertini, D Verrigni, A Ardissone, M Ruiz, I Ferrer, G Uziel, ... Glia 62 (11), 1878-1894, 2014 | 71 | 2014 |
| Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ... The Journal of clinical investigation 129 (3), 1240-1256, 2019 | 69 | 2019 |
| Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males. GENCMS Spanish Covid HGE EBioMedicine. 65, 103246, 2021 | 59 | 2021 |
| Allelic expression imbalance promoting a mutant PEX6 allele causes Zellweger spectrum disorder KD Falkenberg, NE Braverman, AB Moser, SJ Steinberg, FCC Klouwer, ... The American Journal of Human Genetics 101 (6), 965-976, 2017 | 57 | 2017 |
| Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. Mov Disord. 34 (10), 1547-1561, 2019 | 56 | 2019 |
| Mitochondrial dysfunction and oxidative damage cooperatively fuel axonal degeneration in X-linked adrenoleukodystrophy S Fourcade, J López-Erauskin, M Ruiz, I Ferrer, A Pujol Biochimie 98, 143-149, 2014 | 54 | 2014 |
| X‐linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative … MJ Coll, N Palau, C Camps, M Ruiz, T Pampols, M Girós Clinical genetics 67 (5), 418-424, 2005 | 53 | 2005 |
| Tauroursodeoxycholic bile acid arrests axonal degeneration by inhibiting the unfolded protein response in X-linked adrenoleukodystrophy N Launay, M Ruiz, L Grau, FJ Ortega, EV Ilieva, JJ Martínez, E Galea, ... Acta neuropathologica 133, 283-301, 2017 | 47 | 2017 |
| Loss of SIRT 2 leads to axonal degeneration and locomotor disability associated with redox and energy imbalance S Fourcade, L Morató, J Parameswaran, M Ruiz, T Ruiz‐Cortés, M Jové, ... Aging cell 16 (6), 1404-1413, 2017 | 46 | 2017 |
| Oxidative stress regulates the ubiquitin–proteasome system and immunoproteasome functioning in a mouse model of X-adrenoleukodystrophy N Launay, M Ruiz, S Fourcade, A Schlüter, C Guilera, I Ferrer, E Knecht, ... Brain 136 (3), 891-904, 2013 | 46 | 2013 |
| Autophagy induction halts axonal degeneration in a mouse model of X-adrenoleukodystrophy N Launay, C Aguado, S Fourcade, M Ruiz, L Grau, J Riera, C Guilera, ... Acta neuropathologica 129, 399-415, 2015 | 45 | 2015 |
