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Stephanie Efthymiou

Showing results (11-20 of 176) with videos related to

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American Journal of Medical Genetics. Part A|May 22, 2019
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutationMarzieh Khani, Hanieh Taheri, Hosein Shamshiri, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|October 26, 2018
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case studyErica Pironti, Francesca Granata, Francesca Cucinotta, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 7, 2019
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approachMuhammad Ilyas, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Practical Neurology|July 3, 2024
Combined central and peripheral demyelination in two siblings, immune mediated or genetic?Kaminie Moodley, Anandan A Moodley, Stephanie Efthymiou, et al.
European Journal of Neurology|December 16, 2020
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritanceSanthalingam Gayathri, Vykuntaraju K Gowda, Tamilarasan Udhayabanu, et al.
Journal of the Neurological Sciences|April 18, 2020
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosisBeenish Azad, Stephanie Efthymiou, Tipu Sultan, et al.
Neurobiology of Aging|October 30, 2016
Analysis of the prion protein gene in multiple system atrophyViorica Chelban, Andreea Manole, Lasse Pihlstrøm, et al.
Brain & Development|April 1, 2025
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genesSanthalingam Gayathri, Manikka Kubendran Aravind, Vykuntaraju K Gowda, et al.
Klinische Padiatrie|April 8, 2021
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and MoroccoFarah Bibi, Asmat Ullah, Thomas Bourinaris, et al.
Journal of Neurogenetics|July 11, 2018
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case studyErica Pironti, Vincenzo Salpietro, Francesca Cucinotta, et al.
Pageof 18

Showing results (11-20 of 176) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|May 22, 2019
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutationMarzieh Khani, Hanieh Taheri, Hosein Shamshiri, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|October 26, 2018
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case studyErica Pironti, Francesca Granata, Francesca Cucinotta, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 7, 2019
Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approachMuhammad Ilyas, Vincenzo Salpietro, Stephanie Efthymiou, et al.
Practical Neurology|July 3, 2024
Combined central and peripheral demyelination in two siblings, immune mediated or genetic?Kaminie Moodley, Anandan A Moodley, Stephanie Efthymiou, et al.
European Journal of Neurology|December 16, 2020
Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritanceSanthalingam Gayathri, Vykuntaraju K Gowda, Tamilarasan Udhayabanu, et al.
Journal of the Neurological Sciences|April 18, 2020
Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosisBeenish Azad, Stephanie Efthymiou, Tipu Sultan, et al.
Neurobiology of Aging|October 30, 2016
Analysis of the prion protein gene in multiple system atrophyViorica Chelban, Andreea Manole, Lasse Pihlstrøm, et al.
Brain & Development|April 1, 2025
Brown-Vialetto-Van Laere syndrome patients with unusual phenotypes from Indian ethnicity: Functional analysis of clinical variants in SLC52A2 and SLC52A3 genesSanthalingam Gayathri, Manikka Kubendran Aravind, Vykuntaraju K Gowda, et al.
Klinische Padiatrie|April 8, 2021
Tay-Sachs Disease: Two Novel Rare HEXA Mutations from Pakistan and MoroccoFarah Bibi, Asmat Ullah, Thomas Bourinaris, et al.
Journal of Neurogenetics|July 11, 2018
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case studyErica Pironti, Vincenzo Salpietro, Francesca Cucinotta, et al.
Pageof 18