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Raphael Schiffmann

Showing results (191-200 of 225) with videos related to

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Scientific Reports|March 24, 2023
Optimizing human α-galactosidase for treatment of Fabry diseaseWilliam C Hallows, Kristen Skvorak, Nick Agard, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, et al.
Journal of Inherited Metabolic Disease|April 4, 2020
The definition of neuronopathic Gaucher diseaseRaphael Schiffmann, Jeff Sevigny, Arndt Rolfs, et al.
Eneuro|October 20, 2015
CSF and Blood Levels of GFAP in Alexander DiseasePaige L Jany, Guillermo E Agosta, William S Benko, et al.
Journal of Inherited Metabolic Disease|March 6, 2019
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trialRaphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, et al.
Progress in Neurobiology|November 5, 2020
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher diseaseYael Pewzner-Jung, Tammar Joseph, Shani Blumenreich, et al.
Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Pageof 23

Showing results (191-200 of 225) with videos related to

Sort By:
Pageof 23
Scientific Reports|March 24, 2023
Optimizing human α-galactosidase for treatment of Fabry diseaseWilliam C Hallows, Kristen Skvorak, Nick Agard, et al.
Neurology|August 3, 2014
TUBB4A de novo mutations cause isolated hypomyelinationAmy Pizzino, Tyler Mark Pierson, Yiran Guo, et al.
Molecular Genetics and Metabolism|February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathiesAdeline Vanderver, Morgan Prust, Davide Tonduti, et al.
Journal of Inherited Metabolic Disease|April 4, 2020
The definition of neuronopathic Gaucher diseaseRaphael Schiffmann, Jeff Sevigny, Arndt Rolfs, et al.
Eneuro|October 20, 2015
CSF and Blood Levels of GFAP in Alexander DiseasePaige L Jany, Guillermo E Agosta, William S Benko, et al.
Journal of Inherited Metabolic Disease|March 6, 2019
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trialRaphael Schiffmann, Ozlem Goker-Alpan, Myrl Holida, et al.
Progress in Neurobiology|November 5, 2020
Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher diseaseYael Pewzner-Jung, Tammar Joseph, Shani Blumenreich, et al.
Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Nature Genetics|March 27, 2007
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper, Thom van der Klok, Rob J van Andel, et al.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Pageof 23