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| Autoantibodies neutralizing type I IFNs are present in~ 4% of uninfected individuals over 70 years old and account for~ 20% of COVID-19 deaths P Bastard, A Gervais, T Le Voyer, J Rosain, Q Philippot, J Manry, ... Science immunology 6 (62), eabl4340, 2021 | 433 | 2021 |
| ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations S Kemp, A Pujol, HR Waterham, BM Van Geel, CD Boehm, GV Raymond, ... Human mutation 18 (6), 499-515, 2001 | 366 | 2001 |
| X-linked recessive TLR7 deficiency in~ 1% of men under 60 years old with life-threatening COVID-19 T Asano, B Boisson, F Onodi, D Matuozzo, M Moncada-Velez, ... Science immunology 6 (62), eabl4348, 2021 | 325 | 2021 |
| Pharmacological Inhibition of poly (ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle E Pirinen, C Canto, YS Jo, L Morato, H Zhang, KJ Menzies, EG Williams, ... Cell metabolism 19 (6), 1034-1041, 2014 | 277 | 2014 |
| A global effort to define the human genetics of protective immunity to SARS-Cov2 infection SHC Casanova JL Cell 181 (6), 1194-1199, 2020 | 252 | 2020 |
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| Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy A Pujol, C Hindelang, N Callizot, U Bartsch, M Schachner, JL Mandel Human molecular genetics 11 (5), 499-505, 2002 | 227 | 2002 |
| 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 |
| The evolutionary origin of peroxisomes: an ER-peroxisome connection A Schlüter, S Fourcade, R Ripp, JL Mandel, O Poch, A Pujol Molecular biology and evolution 23 (4), 838-845, 2006 | 209 | 2006 |
| Methylene blue upregulates Nrf2/ARE genes and prevents tau-related neurotoxicity C Stack, S Jainuddin, C Elipenahli, M Gerges, N Starkova, AA Starkov, ... Human molecular genetics 23 (14), 3716-3732, 2014 | 151 | 2014 |
| General aspects and neuropathology of X‐linked adrenoleukodystrophy I Ferrer, P Aubourg, A Pujol Brain pathology 20 (4), 817-830, 2010 | 147 | 2010 |
| De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ... The American Journal of Human Genetics 101 (5), 768-788, 2017 | 144 | 2017 |
| Pathomechanisms underlying X‐adrenoleukodystrophy: a three‐hit hypothesis I Singh, A Pujol Brain pathology 20 (4), 838-844, 2010 | 144 | 2010 |
| 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 |
| Neuroinflammatory signals in Alzheimer disease and APP/PS1 transgenic mice: correlations with plaques, tangles, and oligomeric species I López-González, A Schlüter, E Aso, P Garcia-Esparcia, B Ansoleaga, ... Journal of Neuropathology & Experimental Neurology 74 (4), 319-344, 2015 | 136 | 2015 |
| Functional genomics reveals dysregulation of cortical olfactory receptors in Parkinson disease: novel putative chemoreceptors in the human brain P Garcia-Esparcia, A Schlüter, M Carmona, J Moreno, B Ansoleaga, ... Journal of Neuropathology & Experimental Neurology 72 (6), 524-539, 2013 | 135 | 2013 |
Montserrat RuizInvestigador post-doctoral, IDIBELL, CIBERERVerified email at idibell.cat
