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Catherine Caillaud

Showing results (61-70 of 86) with videos related to

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European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Molecular Genetics and Metabolism|July 16, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findingsAnaïs Brassier, Samia Pichard, Manuel Schiff, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and GreeceBénédicte Héron, Yann Mikaeloff, Roseline Froissart, et al.
Scientific Reports|November 5, 2016
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patientsElisa Masat, Pascal Laforêt, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Clinical Pharmacokinetics|August 22, 2018
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1Juliette Berger, Marie Vigan, Bruno Pereira, et al.
Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.
Cell Reports|June 28, 2018
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to NeurodegenerationMaxime Boutry, Julien Branchu, Céline Lustremant, et al.
Birth Defects Research|September 7, 2021
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutationSuzanne Chartier, Lucile Boutaud, Edouard Le Guillou, et al.
Pageof 9

Showing results (61-70 of 86) with videos related to

Sort By:
Pageof 9
European Journal of Medical Genetics|February 15, 2012
A new lysosomal storage disorder resembling Morquio syndrome in sibsLaurence Perrin, Odile Fenneteau, Brice Ilharreborde, et al.
Journal of Inherited Metabolic Disease|August 30, 2018
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide studyClaudio Semplicini, Pascaline Letard, Marie De Antonio, et al.
Molecular Genetics and Metabolism|July 16, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findingsAnaïs Brassier, Samia Pichard, Manuel Schiff, et al.
American Journal of Medical Genetics. Part A|January 5, 2011
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and GreeceBénédicte Héron, Yann Mikaeloff, Roseline Froissart, et al.
Scientific Reports|November 5, 2016
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patientsElisa Masat, Pascal Laforêt, Marie De Antonio, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
Natural disease history and characterisation of SUMF1 molecular defects in ten unrelated patients with multiple sulfatase deficiencyFrédérique Sabourdy, Lionel Mourey, Emmanuelle Le Trionnaire, et al.
Clinical Pharmacokinetics|August 22, 2018
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1Juliette Berger, Marie Vigan, Bruno Pereira, et al.
Brain : a Journal of Neurology|December 20, 2019
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanismsVincent Huin, Mathieu Barbier, Armand Bottani, et al.
Cell Reports|June 28, 2018
Inhibition of Lysosome Membrane Recycling Causes Accumulation of Gangliosides that Contribute to NeurodegenerationMaxime Boutry, Julien Branchu, Céline Lustremant, et al.
Birth Defects Research|September 7, 2021
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutationSuzanne Chartier, Lucile Boutaud, Edouard Le Guillou, et al.
Pageof 9