| 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 | 10970 | 2021 |
| Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease GHB Maegawa, MB Tropak, JD Buttner, BA Rigat, M Fuller, D Pandit, ... Journal of Biological Chemistry 284 (35), 23502-23516, 2009 | 367 | 2009 |
| The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported GHB Maegawa, T Stockley, M Tropak, B Banwell, S Blaser, F Kok, ... Pediatrics 118 (5), e1550-e1562, 2006 | 207 | 2006 |
| Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis GHB Maegawa, M Tropak, J Buttner, T Stockley, F Kok, JTR Clarke, ... Journal of Biological Chemistry 282 (12), 9150-9161, 2007 | 198 | 2007 |
| Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ... The American Journal of Human Genetics 98 (2), 347-357, 2016 | 130 | 2016 |
| Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: a 1‐year phase 1 … R Schiffmann, O Goker‐Alpan, M Holida, P Giraldo, L Barisoni, RB Colvin, ... Journal of inherited metabolic disease 42 (3), 534-544, 2019 | 127 | 2019 |
| Isofagomine induced stabilization of glucocerebrosidase GJ Kornhaber, MB Tropak, GH Maegawa, SJ Tuske, SJ Coales, ... ChemBioChem 9 (16), 2643-2649, 2008 | 109 | 2008 |
| Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on β‐glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry MB Tropak, GJ Kornhaber, BA Rigat, GH Maegawa, JD Buttner, ... ChemBioChem 9 (16), 2650-2662, 2008 | 95 | 2008 |
| Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome W Seifert, M Holder-Espinasse, S Spranger, M Hoeltzenbein, E Rossier, ... Journal of medical genetics 43 (5), e22-e22, 2006 | 87 | 2006 |
| Developing therapeutic approaches for metachromatic leukodystrophy SA Patil, GHB Maegawa Drug Design, Development and Therapy, 729-745, 2013 | 78 | 2013 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 74 | 2019 |
| Substrate reduction therapy in juvenile GM2 gangliosidosis GHB Maegawa, BL Banwell, S Blaser, G Sorge, M Toplak, C Ackerley, ... Molecular genetics and metabolism 98 (1-2), 215-224, 2009 | 73 | 2009 |
| Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease CA Teixeira, CO Miranda, VF Sousa, TE Santos, AR Malheiro, M Solomon, ... Neurobiology of disease 66, 92-103, 2014 | 69 | 2014 |
| MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: meta‐analysis and consensus guidelines EJ Mallack, BR Turk, H Yan, C Price, M Demetres, AB Moser, C Becker, ... Journal of inherited metabolic disease 44 (3), 728-739, 2021 | 59 | 2021 |
| CNS-targeting therapies for lysosomal storage diseases: current advances and challenges MJ Edelmann, GHB Maegawa Frontiers in molecular biosciences 7, 559804, 2020 | 53 | 2020 |
| KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy‐lysosome defect KA Metz, X Teng, I Coppens, HM Lamb, BE Wagner, JA Rosenfeld, ... Annals of neurology 84 (5), 766-780, 2018 | 48 | 2018 |
| Clinical neurogenetics: neuropathic lysosomal storage disorders GM Pastores, GHB Maegawa Neurologic clinics 31 (4), 1051-1071, 2013 | 48 | 2013 |
| Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo WW Hui, LE Emerson, B Clapp, AE Sheppe, J Sharma, J Del Castillo, ... PLoS Pathogens 17 (5), e1009465, 2021 | 38 | 2021 |
| Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for Fabry disease O Goker-Alpan, MJ Gambello, GHB Maegawa, KJ Nedd, DJ Gruskin, ... JIMD Reports, Volume 25, 95-106, 2016 | 37 | 2016 |
| Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum E Alqahtani, TAGM Huisman, E Boltshauser, I Scheer, T Güngör, A Tekes, ... european journal of paediatric neurology 18 (2), 211-217, 2014 | 35 | 2014 |
