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Meriem Tazir

Showing results (41-50 of 51) with videos related to

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Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
Annals of Neurology|October 13, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter StudySuzanne Lesage, Ariane Lunati, Marion Houot, et al.
Brain Communications|October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
European Journal of Neurology|February 13, 2025
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Nature Genetics|November 3, 2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signalingNika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, et al.
Annals of Neurology|May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.
American Journal of Human Genetics|March 5, 2016
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagySuzanne Lesage, Valérie Drouet, Elisa Majounie, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Neurogenetics|January 24, 2021
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlationsJean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, et al.
Annals of Neurology|October 13, 2020
Characterization of Recessive Parkinson Disease in a Large Multicenter StudySuzanne Lesage, Ariane Lunati, Marion Houot, et al.
Brain Communications|October 10, 2025
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiencyFrancesca Magrinelli, Lucie S Taylor, Sahar Sedighzadeh, et al.
European Journal of Neurology|February 13, 2025
Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13Alessandro Bertini, Mary M Reilly, Chiara Pisciotta, et al.
Nature Genetics|February 11, 2004
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2Maria-Céu Moreira, Sandra Klur, Mitsunori Watanabe, et al.
Brain : a Journal of Neurology|December 15, 2007
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin, Hamid Azzedine, Paola Denora, et al.
Nature Genetics|November 3, 2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signalingNika Schuermans, Salima El Chehadeh, Dimitri Hemelsoet, et al.
Annals of Neurology|May 10, 2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)Davide Pareyson, Tanya Stojkovic, Mary M Reilly, et al.
American Journal of Human Genetics|March 5, 2016
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent MitophagySuzanne Lesage, Valérie Drouet, Elisa Majounie, et al.
Neurogenetics|May 16, 2006
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneityGiovanni Stevanin, Giorgia Montagna, Hamid Azzedine, et al.
Pageof 6