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Catherine Caillaud

Showing results (71-80 of 86) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 27, 2026
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole familyElise Yazbeck, Magalie Barth, Audrey Boyer, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 2010
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosisMarie Abitbol, Jean-Laurent Thibaud, Natasha J Olby, et al.
Journal of Neurology|April 1, 2025
Natural history of adult-onset metachromatic leukodystrophyDaniele Mandia, Juliette Dufour, Silvia Fenu, et al.
Plos One|May 23, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry diseaseWladimir Mauhin, Olivier Benveniste, Damien Amelin, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, 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.
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.
Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, et al.
Orphanet Journal of Rare Diseases|October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJérôme Stirnemann, Marie Vigan, Dalil Hamroun, 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.
Pageof 9

Showing results (71-80 of 86) with videos related to

Sort By:
Pageof 9
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 27, 2026
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole familyElise Yazbeck, Magalie Barth, Audrey Boyer, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 2010
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosisMarie Abitbol, Jean-Laurent Thibaud, Natasha J Olby, et al.
Journal of Neurology|April 1, 2025
Natural history of adult-onset metachromatic leukodystrophyDaniele Mandia, Juliette Dufour, Silvia Fenu, et al.
Plos One|May 23, 2020
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry diseaseWladimir Mauhin, Olivier Benveniste, Damien Amelin, et al.
Orphanet Journal of Rare Diseases|June 10, 2025
Comparison of two genetic strategies for diagnostic work-up of hypertrophic cardiomyopathy: impact on the diagnosis of Fabry disease or transthyretin amyloidosisAurélien Palmyre, Fairouz Koraichi, Flavie Ader, 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.
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.
Journal of Medical Genetics|August 16, 2015
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotypeIsabelle Perrault, Jan Halbritter, Jonathan D Porath, et al.
Orphanet Journal of Rare Diseases|October 11, 2012
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patientsJérôme Stirnemann, Marie Vigan, Dalil Hamroun, 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.
Pageof 9