| Cystinosis WA Gahl, JG Thoene, JA Schneider New England Journal of Medicine 347 (2), 111-121, 2002 | 827 | 2002 |
| Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders M Wolff, KM Johannesen, UBS Hedrich, S Masnada, G Rubboli, ... Brain 140 (5), 1316-1336, 2017 | 534 | 2017 |
| Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. JG Thoene, RG Oshima, JC Crawhall, DL Olson, JA Schneider The Journal of clinical investigation 58 (1), 180-189, 1976 | 374 | 1976 |
| Cysteamine therapy for children with nephropathic cystinosis WA Gahl, GF Reed, JG Thoene, JD Schulman, WB Rizzo, AJ Jonas, ... New England Journal of Medicine 316 (16), 971-977, 1987 | 362 | 1987 |
| Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Role in therapeutic cystine removal? RL Pisoni, JG Thoene, HN Christensen Journal of Biological Chemistry 260 (8), 4791-4798, 1985 | 224 | 1985 |
| Cystinosis: a disorder of lysosomal membrane transport WA Gahl, JG Thoene, JA Schneider The metabolic and molecular bases of inherited disease 3, 5085-5108, 2001 | 215 | 2001 |
| Generation of nitrogen-chlorine oxidants by human phagocytes. ST Test, MB Lampert, PJ Ossanna, JG Thoene, SJ Weiss The Journal of clinical investigation 74 (4), 1341-1349, 1984 | 211 | 1984 |
| CTNS mutations in an American-based population of cystinosis patients V Shotelersuk, D Larson, Y Anikster, G McDowell, R Lemons, I Bernardini, ... The American Journal of Human Genetics 63 (5), 1352-1362, 1998 | 198 | 1998 |
| A cysteine-specific lysosomal transport system provides a major route for the delivery of thiol to human fibroblast lysosomes: possible role in supporting lysosomal proteolysis. RL Pisoni, TL Acker, KM Lisowski, RM Lemons, JG Thoene The Journal of cell biology 110 (2), 327-335, 1990 | 189 | 1990 |
| Safety and feasibility of liver-directed ex vivo gene therapy for homozygous familial hypercholesterolemia SE Raper, M Grossman, DJ Rader, JG Thoene, BJ Clark III, DM Kolansky, ... Annals of surgery 223 (2), 116-126, 1996 | 167 | 1996 |
| The transport systems of mammalian lysosomes RL Pisoni, JG Thoene Biochimica Et Biophysica Acta (BBA)-Reviews on Biomembranes 1071 (4), 351-373, 1991 | 141 | 1991 |
| Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations Y Anikster, C Lucero, J Guo, M Huizing, V Shotelersuk, I Bernardini, ... Pediatric research 47 (1), 17-17, 2000 | 137 | 2000 |
| Ex Vivo Gene Therapy of Familial Hypercholesterolemia. Howard Hughes Medical Institute, University of Michigan JM Wilson, M Grossman, SE Raper, JR Baker Jr, RS Newton, JG Thoene Human Gene Therapy 3 (2), 179-222, 1992 | 136 | 1992 |
| Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant SM Donn, RD Swartz, JG Thoene The Journal of pediatrics 95 (1), 67-70, 1979 | 129 | 1979 |
| Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin J Thoene, H Baker, M Yoshino, L Sweetman New England Journal of Medicine 304 (14), 817-820, 1981 | 114 | 1981 |
| Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells M Park, A Helip-Wooley, J Thoene Journal of the American Society of Nephrology 13 (12), 2878-2887, 2002 | 109 | 2002 |
| Course of nephropathic cystinosis after age 10 years WA Gahl, JA Schneider, JG Thoene, R Chesney The Journal of pediatrics 109 (4), 605-608, 1986 | 102 | 1986 |
| Increased apoptosis in cystinotic fibroblasts and renal proximal tubule epithelial cells results from cysteinylation of protein kinase Cδ MA Park, V Pejovic, KG Kerisit, S Junius, JG Thoene Journal of the American Society of Nephrology 17 (11), 3167-3175, 2006 | 93 | 2006 |
| Mutations of CTNS causing intermediate cystinosis J Thoene, R Lemons, Y Anikster, J Mullet, K Paelicke, C Lucero, W Gahl, ... Molecular genetics and metabolism 67 (4), 283-293, 1999 | 92 | 1999 |
| Detection and characterization of a nucleoside transport system in human fibroblast lysosomes RL Pisoni, JG Thoene Journal of Biological Chemistry 264 (9), 4850-4856, 1989 | 80 | 1989 |
