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Raphael Schiffmann

Showing results (31-40 of 225) with videos related to

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Medicine|September 9, 2005
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous womenSurya Gupta, Markus Ries, Steven Kotsopoulos, et al.
Plos One|April 13, 2011
Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 miceFanny Mochel, Brandon Durant, Alexandra Durr, et al.
Molecular Genetics and Metabolism|December 17, 2013
Quantitative neuroimaging in mucolipidosis type IVRaphael Schiffmann, Joan Mayfield, Caren Swift, et al.
Clinical Therapeutics|October 22, 2009
Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysisChristoph Kampmann, Ales Linhart, Richard B Devereux, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 8, 2009
Biomarkers of Fabry disease nephropathyRaphael Schiffmann, Stephen Waldek, Ariela Benigni, et al.
Neurology|January 10, 2002
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27Deborah N Black, Robert Harris, Raphael Schiffmann, et al.
BMC Neurology|June 25, 2002
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry diseaseDavid F Moore, Gheona Altarescu, Peter Herscovitch, et al.
Pharmacoeconomics|March 6, 2007
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson diseaseDavid F Moore, Markus Ries, Evelyn L Forget, et al.
Journal of the Neurological Sciences|March 17, 2007
The cerebral vasculopathy of Fabry diseaseDavid F Moore, Christine R Kaneski, Hasan Askari, et al.
Archives of Neurology|March 28, 2012
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutationsAna Potic, Bernard Brais, Karine Choquet, et al.
Pageof 23

Showing results (31-40 of 225) with videos related to

Sort By:
Pageof 23
Medicine|September 9, 2005
The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous womenSurya Gupta, Markus Ries, Steven Kotsopoulos, et al.
Plos One|April 13, 2011
Altered dopamine and serotonin metabolism in motorically asymptomatic R6/2 miceFanny Mochel, Brandon Durant, Alexandra Durr, et al.
Molecular Genetics and Metabolism|December 17, 2013
Quantitative neuroimaging in mucolipidosis type IVRaphael Schiffmann, Joan Mayfield, Caren Swift, et al.
Clinical Therapeutics|October 22, 2009
Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysisChristoph Kampmann, Ales Linhart, Richard B Devereux, et al.
Clinical Journal of the American Society of Nephrology : CJASN|December 8, 2009
Biomarkers of Fabry disease nephropathyRaphael Schiffmann, Stephen Waldek, Ariela Benigni, et al.
Neurology|January 10, 2002
Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27Deborah N Black, Robert Harris, Raphael Schiffmann, et al.
BMC Neurology|June 25, 2002
Enzyme replacement reverses abnormal cerebrovascular responses in Fabry diseaseDavid F Moore, Gheona Altarescu, Peter Herscovitch, et al.
Pharmacoeconomics|March 6, 2007
Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson diseaseDavid F Moore, Markus Ries, Evelyn L Forget, et al.
Journal of the Neurological Sciences|March 17, 2007
The cerebral vasculopathy of Fabry diseaseDavid F Moore, Christine R Kaneski, Hasan Askari, et al.
Archives of Neurology|March 28, 2012
4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutationsAna Potic, Bernard Brais, Karine Choquet, et al.
Pageof 23