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Raphael Schiffmann
Raphael Schiffmann
Texas Neurology
Bestätigte E-Mail-Adresse bei texasneurology.com - Startseite
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Zitiert von
Jahr
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
16512001
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
6542016
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
6332009
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
6181995
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
5882002
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
5572007
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
5222004
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
5202007
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
4972000
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
4962007
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
4812017
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
4802009
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
4802006
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
4692000
Parkinsonism among Gaucher disease carriers
O Goker-Alpan, R Schiffmann, ME LaMarca, RL Nussbaum, ...
Journal of medical genetics 41 (12), 937-940, 2004
4572004
Fabry disease
R Schiffmann
Pharmacology & therapeutics 122 (1), 65-77, 2009
423*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
3962003
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
3532009
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
3222006
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
3132001
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