Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Carolina Courage

Showing results (11-20 of 27) with videos related to

Pageof 3
Sort By:
Nature Communications|July 29, 2018
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP productionPoorya Amini, Darko Stojkov, Andrea Felser, et al.
Annals of Neurology|October 21, 2020
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OSLaure Mazzola, Karen L Oliver, Audrey Labalme, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Neurology. Genetics|November 17, 2021
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved CasesLaura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, et al.
Medrxiv : the Preprint Server for Health Sciences|December 23, 2024
A conserved role for ALG10/ALG10B and the <i>N</i> -glycosylation pathway in the sleep-epilepsy axisShubhroz Gill, Torrey R Mandigo, Ayse Deniz Elmali, et al.
Pageof 3

Showing results (11-20 of 27) with videos related to

Sort By:
Pageof 3
Nature Communications|July 29, 2018
Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP productionPoorya Amini, Darko Stojkov, Andrea Felser, et al.
Annals of Neurology|October 21, 2020
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OSLaure Mazzola, Karen L Oliver, Audrey Labalme, et al.
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Neurology. Genetics|November 17, 2021
Progressive Myoclonus Epilepsies: Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved CasesLaura Canafoglia, Silvana Franceschetti, Antonio Gambardella, et al.
Brain Communications|December 15, 2021
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Epilepsia|May 23, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disordersJohannes R Lemke, Erik Riesch, Tim Scheurenbrand, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Annals of Clinical and Translational Neurology|April 26, 2019
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- miceMilka Pringsheim, Diana Mitter, Simone Schröder, et al.
Medrxiv : the Preprint Server for Health Sciences|December 23, 2024
A conserved role for ALG10/ALG10B and the <i>N</i> -glycosylation pathway in the sleep-epilepsy axisShubhroz Gill, Torrey R Mandigo, Ayse Deniz Elmali, et al.
Pageof 3