| Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 13119* | 2021 |
| Autoantibodies against type I IFNs in patients with life-threatening COVID-19 P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ... Science 370 (6515), eabd4585, 2020 | 2428 | 2020 |
| Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption DB Simon, Y Lu, KA Choate, H Velazquez, E Al-Sabban, M Praga, ... Science 285 (5424), 103-106, 1999 | 1333 | 1999 |
| Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants Heart Attack Risk in Puget Sound. Schwartz Stephen M 20 26 Siscovick David S ... Nature genetics 41 (3), 334-341, 2009 | 1288 | 2009 |
| Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 MD Fusco, R Marconi, L Silvestri, L Atorino, L Rampoldi, L Morgante, ... Nature genetics 33 (2), 192-196, 2003 | 1207 | 2003 |
| Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease G Casari, M De Fusco, S Ciarmatori, M Zeviani, M Mora, P Fernandez, ... Cell 93 (6), 973-983, 1998 | 967 | 1998 |
| Polymorphisms of α-adducin and salt sensitivity in patients with essential hypertension D Cusi, C Barlassina, T Azzani, G Casari, L Citterio, M Devoto, N Glorioso, ... The Lancet 349 (9062), 1353-1357, 1997 | 773 | 1997 |
| The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy MD Fusco, A Becchetti, A Patrignani, G Annesi, A Gambardella, ... Nature genetics 26 (3), 275-276, 2000 | 564 | 2000 |
| Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism L Silvestri, V Caputo, E Bellacchio, L Atorino, B Dallapiccola, EM Valente, ... Human molecular genetics 14 (22), 3477-3492, 2005 | 556 | 2005 |
| Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis EA Stahl, D Wegmann, G Trynka, J Gutierrez-Achury, R Do, BF Voight, ... Nature genetics 44 (5), 483-489, 2012 | 473 | 2012 |
| 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 | 429 | 2021 |
| De novo mutations in ATP1A3 cause alternating hemiplegia of childhood EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ... Nature genetics 44 (9), 1030-1034, 2012 | 402 | 2012 |
| In search of antisense G Lavorgna, D Dahary, B Lehner, R Sorek, CM Sanderson, G Casari Trends in biochemical sciences 29 (2), 88-94, 2004 | 376 | 2004 |
| Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport F Ferreirinha, A Quattrini, M Pirozzi, V Valsecchi, G Dina, V Broccoli, ... The Journal of clinical investigation 113 (2), 231-242, 2004 | 374 | 2004 |
| Two point mutations within the adducin genes are involved in blood pressure variation. G Bianchi, G Tripodi, G Casari, S Salardi, BR Barber, R Garcia, P Leoni, ... Proceedings of the National Academy of Sciences 91 (9), 3999-4003, 1994 | 372 | 1994 |
| Autosomal dominant restless legs syndrome maps on chromosome 14q MT Bonati, L Ferini‐Strambi, P Aridon, A Oldani, M Zucconi, G Casari Brain 126 (6), 1485-1492, 2003 | 352 | 2003 |
| Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia E Lamantea, V Tiranti, A Bordoni, A Toscano, F Bono, S Servidei, ... Annals of neurology 52 (2), 211-219, 2002 | 328 | 2002 |
| 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 |
| Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia L Atorino, L Silvestri, M Koppen, L Cassina, A Ballabio, R Marconi, ... The Journal of cell biology 163 (4), 777-787, 2003 | 317 | 2003 |
| The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy S Michiorri, V Gelmetti, E Giarda, F Lombardi, F Romano, R Marongiu, ... Cell Death & Differentiation 17 (6), 962-974, 2010 | 295 | 2010 |
