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Raphael Schiffmann

Showing results (201-210 of 225) with videos related to

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Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatElfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.
Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.
Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.
Annals of Neurology|October 5, 2012
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging FindingsFanny Mochel, Raphael Schiffmann, Marjan E Steenweg, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
BMJ Open|October 11, 2020
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiativeDerralynn A Hughes, Patricio Aguiar, Patrick B Deegan, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, et al.
Pageof 23

Showing results (201-210 of 225) with videos related to

Sort By:
Pageof 23
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatElfrida R Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, et al.
Nature Communications|January 10, 2026
Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionPeter Nordbeck, Ozlem Goker-Alpan, John A Bernat, et al.
Journal of Child Neurology|February 12, 2008
Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic, Raphael Schiffmann, J Rafael Gorospe, et al.
Molecular Genetics and Metabolism|February 16, 2023
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resourceRebecca L Koch, Claudia Soler-Alfonso, Bridget T Kiely, et al.
Annals of Neurology|October 5, 2012
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging FindingsFanny Mochel, Raphael Schiffmann, Marjan E Steenweg, et al.
Molecular Genetics and Metabolism|February 17, 2015
Disease specific therapies in leukodystrophies and leukoencephalopathiesGuy Helman, Keith Van Haren, Joshua L Bonkowsky, et al.
BMJ Open|October 11, 2020
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiativeDerralynn A Hughes, Patricio Aguiar, Patrick B Deegan, et al.
Pediatric Neurology|June 4, 2018
Health-Related Quality of Life for Patients With Genetically Determined LeukoencephalopathyAmytice Mirchi, Félixe Pelletier, Luan T Tran, et al.
Plos Genetics|April 28, 2016
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic DefectsJinglan Zhang, Véronik Lachance, Adam Schaffner, et al.
Pageof 23