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Stephanie Efthymiou

Showing results (31-40 of 176) with videos related to

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Annals of Neurology|August 29, 2025
Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and AtaxiaNathan Routledge, Maxime Lammens, Reza Maroofian, et al.
International Journal of Molecular Sciences|February 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related DisorderMartje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual DyskinesiaReza Maroofian, Juan Darío Ortigoza-Escobar, Pooja Rohilla, et al.
Human Mutation|June 3, 2021
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patientsMohan Rajeshwari, Sellamuthu Karthi, Reetu Singh, et al.
Antioxidants (Basel, Switzerland)|June 27, 2024
Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult CerebellumEboni M V Bucknor, Errin Johnson, Stephanie Efthymiou, et al.
Congenital Anomalies|June 29, 2021
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani familyIkram Ullah, Muhammad Aamir, Muhammad Ilyas, et al.
Epilepsy Research|February 21, 2024
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected familiesMuhammad Ilyas, Faiza Tariq, Rafaqat Ishaq, et al.
Genes|September 28, 2024
A Novel <i>MAG</i> Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani FamilyRabia Akram, Haseeb Anwar, Humaira Muzaffar, et al.
Brain & Development|April 13, 2022
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature reviewGianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, et al.
European Journal of Medical Genetics|September 19, 2022
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic rangeKamran Salayev, Clarissa Rocca, Rauan Kaiyrzhanov, et al.
Pageof 18

Showing results (31-40 of 176) with videos related to

Sort By:
Pageof 18
Annals of Neurology|August 29, 2025
Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and AtaxiaNathan Routledge, Maxime Lammens, Reza Maroofian, et al.
International Journal of Molecular Sciences|February 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related DisorderMartje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 29, 2025
Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual DyskinesiaReza Maroofian, Juan Darío Ortigoza-Escobar, Pooja Rohilla, et al.
Human Mutation|June 3, 2021
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren-Larsson syndrome patientsMohan Rajeshwari, Sellamuthu Karthi, Reetu Singh, et al.
Antioxidants (Basel, Switzerland)|June 27, 2024
Neuroinflammation and Lysosomal Abnormalities Characterise the Essential Role for Oxidation Resistance 1 in the Developing and Adult CerebellumEboni M V Bucknor, Errin Johnson, Stephanie Efthymiou, et al.
Congenital Anomalies|June 29, 2021
A novel variant in the DSE gene leads to Ehlers-Danlos musculocontractural type 2 in a Pakistani familyIkram Ullah, Muhammad Aamir, Muhammad Ilyas, et al.
Epilepsy Research|February 21, 2024
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected familiesMuhammad Ilyas, Faiza Tariq, Rafaqat Ishaq, et al.
Genes|September 28, 2024
A Novel <i>MAG</i> Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani FamilyRabia Akram, Haseeb Anwar, Humaira Muzaffar, et al.
Brain & Development|April 13, 2022
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature reviewGianluca D'Onofrio, Antonella Riva, Gabriella Di Rosa, et al.
European Journal of Medical Genetics|September 19, 2022
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic rangeKamran Salayev, Clarissa Rocca, Rauan Kaiyrzhanov, et al.
Pageof 18