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Brigitte Chabrol

Showing results (101-110 of 147) with videos related to

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Brain : a Journal of Neurology|June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot, David Grabli, Cécile Cazeneuve, 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.
Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
Journal of Inherited Metabolic Disease|March 22, 2017
Neurocognitive profiles in MSUD school-age patientsJuliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, 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.
The Journal of Pediatrics|March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted DietAline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
Pageof 15

Showing results (101-110 of 147) with videos related to

Sort By:
Pageof 15
Brain : a Journal of Neurology|June 4, 2009
Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaFabienne Clot, David Grabli, Cécile Cazeneuve, 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.
Frontiers in Pediatrics|March 6, 2020
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' ReportsMarie Hully, Christine Barnerias, Delphine Chabalier, et al.
Acta Neuropathologica|January 15, 2013
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathyNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2009
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe diseaseMarc Nicolino, Barry Byrne, J Edmund Wraith, et al.
Journal of Inherited Metabolic Disease|March 22, 2017
Neurocognitive profiles in MSUD school-age patientsJuliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, et al.
Cell|April 22, 2009
VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidificationNivetha Ramachandran, Iulia Munteanu, Peixiang Wang, et al.
The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, 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.
The Journal of Pediatrics|March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted DietAline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
Pageof 15