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Emmanuel Roze

Showing results (321-330 of 332) with videos related to

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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.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, 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.
NPJ Parkinson'S Disease|March 30, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's diseasePoornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging PerspectivesLaia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
Annals of Clinical and Translational Neurology|June 19, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 28, 2021
A Multi-center Genome-wide Association Study of Cervical DystoniaYan V Sun, Chengchen Li, Qin Hui, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Pageof 34

Showing results (321-330 of 332) with videos related to

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Pageof 34
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.
Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorderGabriel Aughey, Elisa Cali, Reza Maroofian, 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.
NPJ Parkinson'S Disease|March 30, 2024
Genotype-phenotype correlation in PRKN-associated Parkinson's diseasePoornima Jayadev Menon, Sara Sambin, Baptiste Criniere-Boizet, et al.
Medrxiv : the Preprint Server for Health Sciences|December 16, 2024
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 19, 2026
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging PerspectivesLaia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, et al.
Annals of Clinical and Translational Neurology|June 19, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome SequencingMirja Thomsen, Fabian Ott, Sebastian Loens, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 28, 2021
A Multi-center Genome-wide Association Study of Cervical DystoniaYan V Sun, Chengchen Li, Qin Hui, et al.
Brain : a Journal of Neurology|December 18, 2024
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorderGabriel N Aughey, Elisa Cali, Reza Maroofian, et al.
Pageof 34