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R Schiffmann

Showing results (51-60 of 89) with videos related to

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Neurology|June 20, 1998
Quantitative analysis of cerebral vasculopathy in patients with Fabry diseaseK E Crutchfield, N J Patronas, J M Dambrosia, et al.
American Journal of Human Genetics|August 12, 1999
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypesS A Slaugenhaupt, J S Acierno, L A Helbling, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 17, 1998
Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C diseaseG Tedeschi, S Bonavita, N W Barton, et al.
Clinical Genetics|September 5, 2001
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry diseaseG M Altarescu, L G Goldfarb, K Y Park, et al.
Journal of Inherited Metabolic Disease|August 6, 2009
Management of neuronopathic Gaucher disease: revised recommendationsA Vellodi, A Tylki-Szymanska, E H Davies, et al.
Neurology|March 29, 2001
Evidence for neuroaxonal injury in patients with proteolipid protein gene mutationsS Bonavita, R Schiffmann, D F Moore, et al.
JAMA|June 21, 2001
Enzyme replacement therapy in Fabry disease: a randomized controlled trialR Schiffmann, J B Kopp, H A Austin, et al.
Molecular Genetics and Metabolism|June 18, 2003
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?N Tayebi, J Walker, B Stubblefield, et al.
The Journal of Pediatrics|April 11, 2001
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's diseaseG Altarescu, S Hill, E Wiggs, et al.
Neurology|April 24, 1999
Quantitative analysis of epidermal innervation in Fabry diseaseL J Scott, J W Griffin, C Luciano, et al.
Pageof 9

Showing results (51-60 of 89) with videos related to

Sort By:
Pageof 9
Neurology|June 20, 1998
Quantitative analysis of cerebral vasculopathy in patients with Fabry diseaseK E Crutchfield, N J Patronas, J M Dambrosia, et al.
American Journal of Human Genetics|August 12, 1999
Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypesS A Slaugenhaupt, J S Acierno, L A Helbling, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 17, 1998
Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C diseaseG Tedeschi, S Bonavita, N W Barton, et al.
Clinical Genetics|September 5, 2001
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry diseaseG M Altarescu, L G Goldfarb, K Y Park, et al.
Journal of Inherited Metabolic Disease|August 6, 2009
Management of neuronopathic Gaucher disease: revised recommendationsA Vellodi, A Tylki-Szymanska, E H Davies, et al.
Neurology|March 29, 2001
Evidence for neuroaxonal injury in patients with proteolipid protein gene mutationsS Bonavita, R Schiffmann, D F Moore, et al.
JAMA|June 21, 2001
Enzyme replacement therapy in Fabry disease: a randomized controlled trialR Schiffmann, J B Kopp, H A Austin, et al.
Molecular Genetics and Metabolism|June 18, 2003
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?N Tayebi, J Walker, B Stubblefield, et al.
The Journal of Pediatrics|April 11, 2001
The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's diseaseG Altarescu, S Hill, E Wiggs, et al.
Neurology|April 24, 1999
Quantitative analysis of epidermal innervation in Fabry diseaseL J Scott, J W Griffin, C Luciano, et al.
Pageof 9