| Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II MMP Hermans, D Leenen, MA Kroos, CE Beesley, AT Van der Ploeg, ... Human mutation 23 (1), 47-56, 2004 | 190 | 2004 |
| Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece B Héron, Y Mikaeloff, R Froissart, G Caridade, I Maire, C Caillaud, ... American journal of medical genetics Part A 155 (1), 58-68, 2011 | 182 | 2011 |
| Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease H Michelakakis, C Spanou, A Kondyli, E Dimitriou, S Van Weely, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1317 (3), 219-222, 1996 | 129 | 1996 |
| Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease CEM Hollak, S vom Dahl, JMFG Aerts, N Belmatoug, B Bembi, Y Cohen, ... Blood Cells, Molecules, and Diseases 44 (1), 41-47, 2010 | 121 | 2010 |
| Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children RA Chalmers, MD Bain, H Michelakakis, J Zschocke, RA Iles Journal of inherited metabolic disease 29 (1), 162-172, 2006 | 114 | 2006 |
| Chitotriosidase in neonates with fungal and bacterial infections I Labadaridis, E Dimitriou, M Theodorakis, G Kafalidis, A Velegraki, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 90 (6), F531-F532, 2005 | 91 | 2005 |
| TMEM199 deficiency is a disorder of Golgi homeostasis characterized by elevated aminotransferases, alkaline phosphatase, and cholesterol and abnormal glycosylation JC Jansen, S Timal, M Van Scherpenzeel, H Michelakakis, D Vicogne, ... The American Journal of Human Genetics 98 (2), 322-330, 2016 | 90 | 2016 |
| The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update H Michelakakis, E Dimitriou, I Labadaridis Journal of inherited metabolic disease 27 (5), 705-706, 2004 | 87 | 2004 |
| Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported … M Kroos, M Hoogeveen‐Westerveld, H Michelakakis, R Pomponio, ... Human mutation 33 (8), 1161-1165, 2012 | 85 | 2012 |
| Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl‐CoA: α‐glucosaminide N‐acetyltransferase (HGSNAT) gene M Feldhammer, S Durand, L Mrázová, RM Boucher, R Laframboise, ... Human mutation 30 (6), 918-925, 2009 | 75 | 2009 |
| Genetic assessment of familial and early‐onset Parkinson's disease in a Greek population M Bozi, D Papadimitriou, R Antonellou, M Moraitou, M Maniati, ... European journal of neurology 21 (7), 963-968, 2014 | 73 | 2014 |
| The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients A Shaag, Y Anikster, E Christensen, JZ Glustein, A Fois, H Michelakakis, ... American journal of human genetics 57 (3), 572, 1995 | 73 | 1995 |
| The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients A Shaag, Y Anikster, E Christensen, JZ Glustein, A Fois, H Michelakakis, ... American journal of human genetics 57 (3), 572, 1995 | 73 | 1995 |
| Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B E Paschke, I Milos, H Kreimer-Erlacher, G Hoefler, M Beck, ... Human genetics 109 (2), 159-166, 2001 | 72 | 2001 |
| 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), 114, 2013 | 70 | 2013 |
| Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells G Dermentzaki, E Dimitriou, M Xilouri, H Michelakakis, L Stefanis PloS one 8 (4), e60674, 2013 | 69 | 2013 |
| Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease H Michelakakis, G Xiromerisiou, E Dardiotis, M Bozi, D Vassilatis, ... Movement Disorders 27 (3), 400-405, 2012 | 69 | 2012 |
| Childhood Pompe disease: clinical spectrum and genotype in 31 patients CI Van Capelle, JC Van der Meijden, JMP Van Den Hout, J Jaeken, ... Orphanet journal of rare diseases 11 (1), 1-11, 2016 | 66 | 2016 |
| Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients N Papagiannakis, M Xilouri, C Koros, M Stamelou, R Antonelou, ... Movement Disorders 30 (13), 1830-1834, 2015 | 66 | 2015 |
| Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients N Papagiannakis, M Xilouri, C Koros, M Stamelou, R Antonelou, ... Movement Disorders 30 (13), 1830-1834, 2015 | 66 | 2015 |
