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Roseline Froissart

Showing results (51-60 of 62) with videos related to

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Journal of Neuromuscular Diseases|July 9, 2026
2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencingEmmanuelle Pion, Mireille Cossée, Valérie Biancalana, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Orphanet Journal of Rare Diseases|October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher diseaseFabrice Camou, Christine Serratrice, Magali Pettazzoni, et al.
Orphanet Journal of Rare Diseases|August 2, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRYWladimir Mauhin, Olivier Lidove, Damien Amelin, et al.
Neurology|July 25, 2019
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe diseaseLouis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, 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.
Journal of Clinical Medicine|July 26, 2020
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher DiseaseChristine Serratrice, Jérôme Stirnemann, Amina Berrahal, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|December 9, 2010
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromesN Matthew Ellinwood, Jérôme Ausseil, Nathalie Desmaris, et al.
European Journal of Neurology|May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational studyMarine Tardieu, Céline Cudejko, Aline Cano, et al.
Pageof 7

Showing results (51-60 of 62) with videos related to

Sort By:
Pageof 7
Journal of Neuromuscular Diseases|July 9, 2026
2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencingEmmanuelle Pion, Mireille Cossée, Valérie Biancalana, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
Journal of Inherited Metabolic Disease|February 17, 2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic DiseasesAline Cano, Xiaoyi Chen, Azza Khemiri, et al.
Orphanet Journal of Rare Diseases|October 28, 2025
French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher diseaseFabrice Camou, Christine Serratrice, Magali Pettazzoni, et al.
Orphanet Journal of Rare Diseases|August 2, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRYWladimir Mauhin, Olivier Lidove, Damien Amelin, et al.
Neurology|July 25, 2019
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe diseaseLouis Cousyn, Bruno Law-Ye, Nadya Pyatigorskaya, 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.
Journal of Clinical Medicine|July 26, 2020
A Cross-Sectional Retrospective Study of Non-Splenectomized and Never-Treated Patients with Type 1 Gaucher DiseaseChristine Serratrice, Jérôme Stirnemann, Amina Berrahal, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|December 9, 2010
Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromesN Matthew Ellinwood, Jérôme Ausseil, Nathalie Desmaris, et al.
European Journal of Neurology|May 26, 2023
Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational studyMarine Tardieu, Céline Cudejko, Aline Cano, et al.
Pageof 7