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Diana Rodriguez

Showing results (171-180 of 193) with videos related to

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Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
The New England Journal of Medicine|December 20, 2018
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières SyndromeGillian I Rice, Candice Meyzer, Naïm Bouazza, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
JAMA Neurology|January 23, 2018
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Pageof 20

Showing results (171-180 of 193) with videos related to

Sort By:
Pageof 20
Brain : a Journal of Neurology|June 23, 2022
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndromeMatthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, et al.
Elife|January 17, 2023
Gain-of-function variants in the ion channel gene <i>TRPM3</i> underlie a spectrum of neurodevelopmental disordersLydie Burglen, Evelien Van Hoeymissen, Leila Qebibo, et al.
Journal of Medical Genetics|November 1, 2022
New insights into <i>CC2D2A</i>-related Joubert syndromeMadeleine Harion, Leila Qebibo, Audrey Riquet, et al.
American Journal of Human Genetics|October 26, 2023
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCPAnnelise Y Mah-Som, Jil Daw, Diana Huynh, et al.
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
The New England Journal of Medicine|December 20, 2018
Reverse-Transcriptase Inhibitors in the Aicardi–Goutières SyndromeGillian I Rice, Candice Meyzer, Naïm Bouazza, et al.
Annals of Neurology|August 21, 2015
New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-SaguenayJulie Pilliod, Sébastien Moutton, Julie Lavie, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, et al.
JAMA Neurology|January 23, 2018
Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1Mathilde Renaud, Maria-Céu Moreira, Bondo Ben Monga, et al.
American Journal of Human Genetics|February 29, 2020
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental DisordersSónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, et al.
Pageof 20