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Catherine Caillaud

Showing results (41-50 of 86) with videos related to

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British Journal of Haematology|May 29, 2010
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher diseaseJuliette Berger, Séverine Lecourt, Valérie Vanneaux, et al.
Developmental Medicine and Child Neurology|September 7, 2019
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosisBlandine Dozières-Puyravel, Hala Nasser, Monique Elmaleh-Bergès, et al.
Human Molecular Genetics|December 5, 2009
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe diseaseGaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 30, 2005
Dystonia and parkinsonism in GM1 type 3 gangliosidosisEmmanuel Roze, Eduard Paschke, Nathalie Lopez, et al.
Human Molecular Genetics|January 12, 2018
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease miceNatalia Niemir, Laura Rouvière, Aurore Besse, et al.
La Revue De Medecine Interne|August 14, 2025
[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant]Olivier Lidove, Benjamin Subran, Camille Montardi, et al.
La Revue De Medecine Interne|November 18, 2025
[Erratum to "Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant" [Rev Med Interne 46 (2025) 571-574]]Olivier Lidove, Benjamin Subran, Camille Montardi, et al.
Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.
EMBO Molecular Medicine|May 1, 2013
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal diseaseIvan Nemazanyy, Bert Blaauw, Cecilia Paolini, et al.
International Journal of Molecular Sciences|February 21, 2017
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsJérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, et al.
Pageof 9

Showing results (41-50 of 86) with videos related to

Sort By:
Pageof 9
British Journal of Haematology|May 29, 2010
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher diseaseJuliette Berger, Séverine Lecourt, Valérie Vanneaux, et al.
Developmental Medicine and Child Neurology|September 7, 2019
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosisBlandine Dozières-Puyravel, Hala Nasser, Monique Elmaleh-Bergès, et al.
Human Molecular Genetics|December 5, 2009
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe diseaseGaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 30, 2005
Dystonia and parkinsonism in GM1 type 3 gangliosidosisEmmanuel Roze, Eduard Paschke, Nathalie Lopez, et al.
Human Molecular Genetics|January 12, 2018
Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease miceNatalia Niemir, Laura Rouvière, Aurore Besse, et al.
La Revue De Medecine Interne|August 14, 2025
[Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant]Olivier Lidove, Benjamin Subran, Camille Montardi, et al.
La Revue De Medecine Interne|November 18, 2025
[Erratum to "Fabry disease during the last 20 years: Analysis of a cohort of 107 patients, and focus on the F113L variant" [Rev Med Interne 46 (2025) 571-574]]Olivier Lidove, Benjamin Subran, Camille Montardi, et al.
Human Mutation|May 28, 2009
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidaseDoris Hofer, Karl Paul, Katrin Fantur, et al.
EMBO Molecular Medicine|May 1, 2013
Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal diseaseIvan Nemazanyy, Bert Blaauw, Cecilia Paolini, et al.
International Journal of Molecular Sciences|February 21, 2017
A Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsJérôme Stirnemann, Nadia Belmatoug, Fabrice Camou, et al.
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