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Cyril Goizet

Showing results (151-160 of 173) with videos related to

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European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, 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.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, 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.
Nature Genetics|May 5, 2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportAndrea Legati, Donatella Giovannini, Gaël Nicolas, et al.
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
European Journal of Neurology|June 28, 2025
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
Pageof 18

Showing results (151-160 of 173) with videos related to

Sort By:
Pageof 18
European Journal of Neurology|July 31, 2025
The Two Faces of Pediatric SCA2Nicolas Rive Le Gouard, Maissa G Bah, Giulia Coarelli, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, 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.
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, 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.
Nature Genetics|May 5, 2015
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate exportAndrea Legati, Donatella Giovannini, Gaël Nicolas, et al.
American Journal of Human Genetics|November 27, 2012
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegiaChristelle Tesson, Magdalena Nawara, Mustafa A M Salih, et al.
European Journal of Neurology|June 28, 2025
Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and CharacteristicsJulian Theuriet, Lukas Paulet, Blandine Acket, et al.
Nature Genetics|July 18, 2006
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infectionYanick J Crow, Andrea Leitch, Bruce E Hayward, et al.
The Journal of Experimental Medicine|September 21, 2021
Implication of folate deficiency in CYP2U1 loss of functionClaire Pujol, Anne Legrand, Livia Parodi, et al.
Pageof 18