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Raphael Schiffmann

Showing results (111-120 of 225) with videos related to

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Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Biochemical Society Symposium|March 27, 2003
MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brainsMark Sutton-Smith, Howard R Morris, Prabhjit K Grewal, et al.
Muscle & Nerve|November 26, 2003
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry diseaseRaphael Schiffmann, Mary Kay Floeter, James M Dambrosia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2006
Quantitative dysmorphology assessment in Fabry diseaseMarkus Ries, David F Moore, Chevalia J Robinson, et al.
Plos One|June 28, 2012
Developmental splicing deregulation in leukodystrophies related to EIF2B mutationsAurélia Huyghe, Laetitia Horzinski, Alain Hénaut, et al.
Nature Genetics|September 5, 2006
Lamin B1 duplications cause autosomal dominant leukodystrophyQuasar S Padiath, Kazumasa Saigoh, Raphael Schiffmann, et al.
American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.
Journal of Proteome Research|April 26, 2008
Time series proteome profiling to study endoplasmic reticulum stress responseMichelle Mintz, Adeline Vanderver, Kristy J Brown, et al.
Molecular Genetics and Metabolism Reports|December 22, 2021
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786]Daniel G Bichet, Roser Torra, Eric Wallace, et al.
Annals of Neurology|September 27, 2002
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusAnne Fogli, Kondi Wong, Eleonore Eymard-Pierre, et al.
Pageof 23

Showing results (111-120 of 225) with videos related to

Sort By:
Pageof 23
Orphanet Journal of Rare Diseases|July 13, 2023
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literatureAna Potic, Stefanie Perrier, Tijana Radovic, et al.
Biochemical Society Symposium|March 27, 2003
MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brainsMark Sutton-Smith, Howard R Morris, Prabhjit K Grewal, et al.
Muscle & Nerve|November 26, 2003
Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry diseaseRaphael Schiffmann, Mary Kay Floeter, James M Dambrosia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2006
Quantitative dysmorphology assessment in Fabry diseaseMarkus Ries, David F Moore, Chevalia J Robinson, et al.
Plos One|June 28, 2012
Developmental splicing deregulation in leukodystrophies related to EIF2B mutationsAurélia Huyghe, Laetitia Horzinski, Alain Hénaut, et al.
Nature Genetics|September 5, 2006
Lamin B1 duplications cause autosomal dominant leukodystrophyQuasar S Padiath, Kazumasa Saigoh, Raphael Schiffmann, et al.
American Journal of Human Genetics|November 1, 2011
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophyMartine Tétreault, Karine Choquet, Simona Orcesi, et al.
Journal of Proteome Research|April 26, 2008
Time series proteome profiling to study endoplasmic reticulum stress responseMichelle Mintz, Adeline Vanderver, Kristy J Brown, et al.
Molecular Genetics and Metabolism Reports|December 22, 2021
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786]Daniel G Bichet, Roser Torra, Eric Wallace, et al.
Annals of Neurology|September 27, 2002
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusAnne Fogli, Kondi Wong, Eleonore Eymard-Pierre, et al.
Pageof 23