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Edgard Verdura

Showing results (11-20 of 28) with videos related to

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Annals of Neurology|October 4, 2021
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a LeukoencephalopathyChaker Aloui, Dominique Hervé, Gaelle Marenne, et al.
Brain : a Journal of Neurology|March 24, 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophyAlessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, et al.
Aging Cell|October 16, 2024
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegiaNathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, et al.
The Journal of Clinical Investigation|July 18, 2023
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegiaNathalie Launay, Montserrat Ruiz, Laura Planas-Serra, et al.
Annals of Neurology|September 27, 2016
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathyEdgard Verdura, Dominique Hervé, Françoise Bergametti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 17, 2024
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype CorrelationAmaia Lasa-Aranzasti, Yonika A Larasati, Juliana da Silva Cardoso, et al.
Orphanet Journal of Rare Diseases|October 25, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, et al.
Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine|September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritizationAgatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, 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.
Pageof 3

Showing results (11-20 of 28) with videos related to

Sort By:
Pageof 3
Annals of Neurology|October 4, 2021
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a LeukoencephalopathyChaker Aloui, Dominique Hervé, Gaelle Marenne, et al.
Brain : a Journal of Neurology|March 24, 2022
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophyAlessandra Guasto, Johanne Dubail, Sergio Aguilera-Albesa, et al.
Aging Cell|October 16, 2024
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegiaNathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, et al.
The Journal of Clinical Investigation|July 18, 2023
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegiaNathalie Launay, Montserrat Ruiz, Laura Planas-Serra, et al.
Annals of Neurology|September 27, 2016
Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathyEdgard Verdura, Dominique Hervé, Françoise Bergametti, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|June 17, 2024
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype CorrelationAmaia Lasa-Aranzasti, Yonika A Larasati, Juliana da Silva Cardoso, et al.
Orphanet Journal of Rare Diseases|October 25, 2012
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, et al.
Neurology|January 11, 2022
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven PrioritizationAgatha Schlüter, Agustí Rodríguez-Palmero, Edgard Verdura, et al.
Genome Medicine|September 7, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritizationAgatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, 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.
Pageof 3