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Fanny Mochel

Showing results (41-50 of 172) with videos related to

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Biochemical and Biophysical Research Communications|July 30, 2015
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)Saki Sultana, Jennifer Reichbauer, Rebecca Schüle, et al.
Neurology|January 9, 2015
Triheptanoin improves brain energy metabolism in patients with Huntington diseaseIsaac Mawusi Adanyeguh, Daisy Rinaldi, Pierre-Gilles Henry, et al.
Neurology. Genetics|September 10, 2021
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic ParaplegiaPatricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, et al.
Journal of Critical Care|February 17, 2020
Ureaplasma parvum causes hyperammonemia presenting as refractory status epilepticus after kidney transplantCamille Legouy, Alice Hu, Fanny Mochel, et al.
European Journal of Medical Genetics|August 19, 2017
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulationRodolphe Dard, Claire Meyniel, Valérie Touitou, et al.
Brain & Development|June 15, 2019
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutationsBlandine Dozières-Puyravel, Sasha Zaman, Steven Petrou, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansionFlavie Borel, Christel Thauvin, Manuel Schiff, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomesMaria Del Mar Amador, Marion Masingue, Rabab Debs, et al.
Orphanet Journal of Rare Diseases|April 17, 2016
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthoodBertrand Degos, Yann Nadjar, Maria del Mar Amador, et al.
Neurobiology of Disease|February 26, 2021
Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxiaGiulia Coarelli, Frederic Darios, Emilien Petit, et al.
Pageof 18

Showing results (41-50 of 172) with videos related to

Sort By:
Pageof 18
Biochemical and Biophysical Research Communications|July 30, 2015
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46)Saki Sultana, Jennifer Reichbauer, Rebecca Schüle, et al.
Neurology|January 9, 2015
Triheptanoin improves brain energy metabolism in patients with Huntington diseaseIsaac Mawusi Adanyeguh, Daisy Rinaldi, Pierre-Gilles Henry, et al.
Neurology. Genetics|September 10, 2021
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic ParaplegiaPatricia Morejon-Garcia, Boris Keren, Iñigo Marcos-Alcalde, et al.
Journal of Critical Care|February 17, 2020
Ureaplasma parvum causes hyperammonemia presenting as refractory status epilepticus after kidney transplantCamille Legouy, Alice Hu, Fanny Mochel, et al.
European Journal of Medical Genetics|August 19, 2017
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulationRodolphe Dard, Claire Meyniel, Valérie Touitou, et al.
Brain & Development|June 15, 2019
Usefulness of diagnostic tools in a GLUT1 deficiency syndrome patient with 2 inherited mutationsBlandine Dozières-Puyravel, Sasha Zaman, Steven Petrou, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 3, 2026
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansionFlavie Borel, Christel Thauvin, Manuel Schiff, et al.
Journal of Inherited Metabolic Disease|March 22, 2018
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomesMaria Del Mar Amador, Marion Masingue, Rabab Debs, et al.
Orphanet Journal of Rare Diseases|April 17, 2016
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthoodBertrand Degos, Yann Nadjar, Maria del Mar Amador, et al.
Neurobiology of Disease|February 26, 2021
Plasma neurofilament light chain predicts cerebellar atrophy and clinical progression in spinocerebellar ataxiaGiulia Coarelli, Frederic Darios, Emilien Petit, et al.
Pageof 18