| Senescence‐associated β‐galactosidase is lysosomal β‐galactosidase BY Lee, JA Han, JS Im, A Morrone, K Johung, EC Goodwin, WJ Kleijer, ... Aging cell 5 (2), 187-195, 2006 | 1657 | 2006 |
| Lysosomal storage disorders: molecular basis and laboratory testing M Filocamo, A Morrone Human genomics 5, 1-14, 2011 | 192 | 2011 |
| The enigmatic role of tafazzin in cardiolipin metabolism RH Houtkooper, M Turkenburg, BT Poll-The, D Karall, C Pérez-Cerdá, ... Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (10), 2003-2014, 2009 | 181 | 2009 |
| GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings A Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011 | 178 | 2011 |
| RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance. A Morrone, E Pegoraro, C Angelini, E Zammarchi, G Marconi, EP Hoffman The journal of clinical investigation 99 (7), 1691-1698, 1997 | 96 | 1997 |
| Angiokeratoma: decision‐making aid for the diagnosis of Fabry disease A Zampetti, CH Orteu, D Antuzzi, MR Bongiorno, S Manco, M Gnarra, ... British Journal of Dermatology 166 (4), 712-720, 2012 | 88 | 2012 |
| Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, ... Journal of medical genetics 40 (8), e103-e103, 2003 | 85 | 2003 |
| β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement A Morrone, T Bardelli, MA Donati, M Giorgi, M Di Rocco, R Gatti, R Parini, ... Human mutation 15 (4), 354-366, 2000 | 83 | 2000 |
| A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl Neuropediatrics 48 (04), 309-314, 2017 | 82 | 2017 |
| Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database A Morrone, A Caciotti, R Atwood, K Davidson, C Du, P Francis‐Lyon, ... Human mutation 35 (11), 1271-1279, 2014 | 78 | 2014 |
| Galactosialidosis: review and analysis of CTSA gene mutations A Caciotti, S Catarzi, R Tonin, L Lugli, CR Perez, H Michelakakis, ... Orphanet journal of rare diseases 8, 1-9, 2013 | 78 | 2013 |
| Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease M Rigoldi, D Concolino, A Morrone, F Pieruzzi, R Ravaglia, F Furlan, ... Clinical Genetics 86 (3), 258-263, 2014 | 68 | 2014 |
| Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis A Caciotti, MA Donati, A Boneh, A d'Azzo, A Federico, R Parini, D Antuzzi, ... Human mutation 25 (3), 285-292, 2005 | 68 | 2005 |
| Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson–Fabry disease B Tomberli, F Cecchi, R Sciagra, V Berti, F Lisi, F Torricelli, A Morrone, ... European journal of heart failure 15 (12), 1363-1373, 2013 | 67 | 2013 |
| Functional studies of new GLA gene mutations leading to conformational Fabry disease C Filoni, A Caciotti, L Carraresi, C Cavicchi, R Parini, D Antuzzi, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (2), 247-252, 2010 | 65 | 2010 |
| Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations A Morrone, KL Tylee, M Al-Sayed, AC Brusius-Facchin, A Caciotti, ... Molecular genetics and metabolism 112 (2), 160-170, 2014 | 61 | 2014 |
| Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency C Cavicchi, S Malvagia, G la Marca, S Gasperini, MA Donati, ... Journal of pharmaceutical and biomedical analysis 49 (5), 1292-1295, 2009 | 60 | 2009 |
| Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients A Caciotti, MA Donati, T Bardelli, A d'Azzo, G Massai, L Luciani, ... The American journal of pathology 167 (6), 1689-1698, 2005 | 54 | 2005 |
| Human Acid β‐Glucosidase Inhibition by Carbohydrate Derived Iminosugars: Towards New Pharmacological Chaperones for Gaucher Disease C Parmeggiani, S Catarzi, C Matassini, G D'Adamio, A Morrone, A Goti, ... ChemBioChem 16 (14), 2054-2064, 2015 | 53 | 2015 |
| Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population I Sinigerska, D Chandler, V Vaghjiani, I Hassanova, R Gooding, ... Molecular genetics and metabolism 88 (1), 93-95, 2006 | 53 | 2006 |
Renzo GuerriniProfessore di Neuropsichiatria Infantile, Università di Firenzemeyer.it의 이메일 확인됨
