Enzyme replacement therapy in Fabry disease: a randomized controlled trial R Schiffmann, JB Kopp, HA Austin III, S Sabnis, DF Moore, T Weibel, ... Jama 285 (21), 2743-2749, 2001 | 1619 | 2001 |
Natural history of Fabry renal disease: influence of α-galactosidase A activity and genetic mutations on clinical course MH Branton, R Schiffmann, SG Sabnis, GJ Murray, JM Quirk, G Altarescu, ... Medicine 81 (2), 122-138, 2002 | 604 | 2002 |
Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources GA Grabowski, NW Barton, G Pastores, JM Dambrosia, TK Banerjee, ... Annals of internal medicine 122 (1), 33-39, 1995 | 604 | 1995 |
Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ... New england journal of medicine 375 (6), 545-555, 2016 | 597 | 2016 |
Invited article: an MRI-based approach to the diagnosis of white matter disorders R Schiffmann, MS van der Knaap Neurology 72 (8), 750-759, 2009 | 597 | 2009 |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation GC Scheper, T Van Der Klok, RJ Van Andel, CGM Van Berkel, M Sissler, ... Nature genetics 39 (4), 534-539, 2007 | 541 | 2007 |
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype–phenotype relationship KH Kraemer, NJ Patronas, R Schiffmann, BP Brooks, D Tamura, ... Neuroscience 145 (4), 1388-1396, 2007 | 507 | 2007 |
Neuropathology provides clues to the pathophysiology of Gaucher disease K Wong, E Sidransky, A Verma, T Mixon, GD Sandberg, LK Wakefield, ... Molecular genetics and metabolism 82 (3), 192-207, 2004 | 503 | 2004 |
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel M Sun, E Goldin, S Stahl, JL Falardeau, JC Kennedy, JS Acierno Jr, ... Human molecular genetics 9 (17), 2471-2478, 2000 | 479 | 2000 |
Lamin B1 duplications cause autosomal dominant leukodystrophy QS Padiath, K Saigoh, R Schiffmann, H Asahara, T Yamada, A Koeppen, ... Nature genetics 38 (10), 1114-1123, 2006 | 473 | 2006 |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 471 | 2007 |
Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease R Schiffmann, GJ Murray, D Treco, P Daniel, M Sellos-Moura, M Myers, ... Proceedings of the National Academy of Sciences 97 (1), 365-370, 2000 | 464 | 2000 |
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy R Schiffmann, DG Warnock, M Banikazemi, J Bultas, GE Linthorst, ... Nephrology Dialysis Transplantation 24 (7), 2102-2111, 2009 | 462 | 2009 |
Parkinsonism among Gaucher disease carriers O Goker-Alpan, R Schiffmann, ME LaMarca, RL Nussbaum, ... Journal of medical genetics 41 (12), 937-940, 2004 | 443 | 2004 |
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ... Journal of medical genetics 54 (4), 288-296, 2017 | 436 | 2017 |
Fabry disease R Schiffmann Pharmacology & therapeutics 122 (1), 65-77, 2009 | 404* | 2009 |
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? N Tayebi, J Walker, B Stubblefield, E Orvisky, ME LaMarca, K Wong, ... Molecular genetics and metabolism 79 (2), 104-109, 2003 | 384 | 2003 |
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data A Mehta, M Beck, P Elliott, R Giugliani, A Linhart, G Sunder-Plassmann, ... The Lancet 374 (9706), 1986-1996, 2009 | 337 | 2009 |
Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting R Schiffmann, M Ries, M Timmons, JT Flaherty, RO Brady Nephrology Dialysis Transplantation 21 (2), 345-354, 2006 | 313 | 2006 |
Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy DF Moore, LTC Scott, MT Gladwin, G Altarescu, C Kaneski, K Suzuki, ... Circulation 104 (13), 1506-1512, 2001 | 310 | 2001 |