| 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 | 13174* | 2021 |
| A gene network regulating lysosomal biogenesis and function M Sardiello, M Palmieri, A Di Ronza, DL Medina, M Valenza, ... Science 325 (5939), 473-477, 2009 | 2426 | 2009 |
| Lysosomal storage diseases: from pathophysiology to therapy G Parenti, G Andria, A Ballabio Annual review of medicine 66, 471-486, 2015 | 438 | 2015 |
| The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases MP Cosma, S Pepe, I Annunziata, RF Newbold, M Grompe, G Parenti, ... Cell 113 (4), 445-456, 2003 | 403 | 2003 |
| Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease C Spampanato, E Feeney, L Li, M Cardone, JA Lim, F Annunziata, H Zare, ... EMBO molecular medicine 5 (5), 691-706, 2013 | 351 | 2013 |
| Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics G Parenti EMBO molecular medicine 1 (5), 268-279, 2009 | 347 | 2009 |
| A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ... Cell 81 (1), 15-25, 1995 | 335 | 1995 |
| Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis EV Polishchuk, M Concilli, S Iacobacci, G Chesi, N Pastore, P Piccolo, ... Developmental cell 29 (6), 686-700, 2014 | 256 | 2014 |
| Pharmacological chaperone therapy: preclinical development, clinical translation, and prospects for the treatment of lysosomal storage disorders G Parenti, G Andria, KJ Valenzano Molecular Therapy 23 (7), 1138-1148, 2015 | 246 | 2015 |
| The sulfatase gene family G Parenti, G Meroni, A Ballabio Current opinion in genetics & development 7 (3), 386-391, 1997 | 219 | 1997 |
| Structure of human lysosomal acid α-glucosidase–a guide for the treatment of Pompe disease V Roig-Zamboni, B Cobucci-Ponzano, R Iacono, MC Ferrara, S Germany, ... Nature communications 8 (1), 1-10, 2017 | 211 | 2017 |
| The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts C Porto, M Cardone, F Fontana, B Rossi, MR Tuzzi, A Tarallo, MV Barone, ... Molecular Therapy 17 (6), 964-971, 2009 | 197 | 2009 |
| Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial M Tardieu, M Zérah, ML Gougeon, J Ausseil, S de Bournonville, B Husson, ... The Lancet Neurology 16 (9), 712-720, 2017 | 195 | 2017 |
| Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. A Ballabio, G Parenti, R Carrozzo, G Sebastio, G Andria, V Buckle, ... Proceedings of the National Academy of Sciences 84 (13), 4519-4523, 1987 | 165 | 1987 |
| Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II ALE Montalvo, B Bembi, M Donnarumma, M Filocamo, G Parenti, M Rossi, ... Human mutation 27 (10), 999-1006, 2006 | 152 | 2006 |
| Pharmacological enhancement of mutated α-glucosidase activity in fibroblasts from patients with Pompe disease G Parenti, A Zuppaldi, MG Pittis, MR Tuzzi, I Annunziata, G Meroni, ... Molecular Therapy 15 (3), 508-514, 2007 | 148 | 2007 |
| European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10‐year experience AT van der Ploeg, ME Kruijshaar, A Toscano, P Laforêt, C Angelini, ... European journal of neurology 24 (6), 768-e31, 2017 | 147 | 2017 |
| The rapidly evolving view of lysosomal storage diseases G Parenti, DL Medina, A Ballabio EMBO molecular medicine 13 (2), e12836, 2021 | 141 | 2021 |
| Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ5-desaturase N Brunetti-Pierri, G Corso, M Rossi, P Ferrari, F Balli, F Rivasi, ... The American Journal of Human Genetics 71 (4), 952-958, 2002 | 141 | 2002 |
| New strategies for the treatment of lysosomal storage diseases G Parenti, C Pignata, P Vajro, M Salerno International journal of molecular medicine 31 (1), 11-20, 2013 | 140 | 2013 |
