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Fanny Mochel

Showing results (81-90 of 172) with videos related to

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Neurology(R) Neuroimmunology & Neuroinflammation|October 28, 2024
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation StimuliJennifer Fransson, Corinne Bachelin, Farid Ichou, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 8, 2019
Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndromeElodie Hainque, Aurélie Meneret, Domitille Gras, et al.
Plos One|July 27, 2007
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progressionFanny Mochel, Perrine Charles, François Seguin, et al.
Journal of Inherited Metabolic Disease|November 8, 2017
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcomeRaphael Schiffmann, Mary E Wallace, Daisy Rinaldi, et al.
American Journal of Human Genetics|February 29, 2008
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceFanny Mochel, Melanie A Knight, Wing-Hang Tong, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiencyAlexander Laemmle, Andrea Lisa Steck, André Schaller, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 20, 2019
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaFanny Mochel, Cécile Delorme, Virginie Czernecki, et al.
Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
Journal of Inherited Metabolic Disease|October 7, 2025
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase DeficiencyBérangère Rousselot-Pailley, Michaela Semeraro, Fabienne Marquant, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Pageof 18

Showing results (81-90 of 172) with videos related to

Sort By:
Pageof 18
Neurology(R) Neuroimmunology & Neuroinflammation|October 28, 2024
Multiple Sclerosis Patient Macrophages Impaired Metabolism Leads to an Altered Response to Activation StimuliJennifer Fransson, Corinne Bachelin, Farid Ichou, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|November 8, 2019
Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndromeElodie Hainque, Aurélie Meneret, Domitille Gras, et al.
Plos One|July 27, 2007
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progressionFanny Mochel, Perrine Charles, François Seguin, et al.
Journal of Inherited Metabolic Disease|November 8, 2017
A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcomeRaphael Schiffmann, Mary E Wallace, Daisy Rinaldi, et al.
American Journal of Human Genetics|February 29, 2008
Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intoleranceFanny Mochel, Melanie A Knight, Wing-Hang Tong, et al.
Molecular Genetics and Metabolism Reports|October 29, 2021
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiencyAlexander Laemmle, Andrea Lisa Steck, André Schaller, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|June 20, 2019
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaFanny Mochel, Cécile Delorme, Virginie Czernecki, et al.
Molecular Genetics and Metabolism Reports|December 7, 2023
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothersSheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, et al.
Journal of Inherited Metabolic Disease|October 7, 2025
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase DeficiencyBérangère Rousselot-Pailley, Michaela Semeraro, Fabienne Marquant, et al.
Annales De Biologie Clinique|February 15, 2021
[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases]Benoit Rucheton, Flavie Ader, David Goudenege, et al.
Pageof 18