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

Eric D Marsh

Showing results (131-140 of 156) with videos related to

Pageof 16
Sort By:
Molecular Genetics & Genomic Medicine|March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohortXiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Annals of the Child Neurology Society|March 18, 2024
Distribution of hand function by age in individuals with Rett syndromeJeffrey L Neul, Tim A Benke, Eric D Marsh, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
European Journal of Human Genetics : EJHG|June 23, 2011
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionAlex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, et al.
Annals of Neurology|January 31, 2017
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppressionHeather E Olson, McKenna Kelly, Christopher M LaCoursiere, et al.
Brain : a Journal of Neurology|March 11, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disordersYousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, et al.
JIMD Reports|February 12, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J Falk, Dong Li, Xiaowu Gai, et al.
Trials|December 21, 2024
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USAJenny Downs, Dominique C Pichard, Walter E Kaufmann, et al.
JIMD Reports|June 30, 2014
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J Falk, Dong Li, Xiaowu Gai, et al.
Epilepsia|April 28, 2023
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapiesHeather E Olson, Scott Demarest, Elia Pestana-Knight, et al.
Pageof 16

Showing results (131-140 of 156) with videos related to

Sort By:
Pageof 16
Molecular Genetics & Genomic Medicine|March 23, 2022
Analysis of X-inactivation status in a Rett syndrome natural history study cohortXiaolan Fang, Kameryn M Butler, Fatima Abidi, et al.
Annals of the Child Neurology Society|March 18, 2024
Distribution of hand function by age in individuals with Rett syndromeJeffrey L Neul, Tim A Benke, Eric D Marsh, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
European Journal of Human Genetics : EJHG|June 23, 2011
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic functionAlex R Paciorkowski, Liu Lin Thio, Jill A Rosenfeld, et al.
Annals of Neurology|January 31, 2017
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppressionHeather E Olson, McKenna Kelly, Christopher M LaCoursiere, et al.
Brain : a Journal of Neurology|March 11, 2021
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disordersYousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, et al.
JIMD Reports|February 12, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J Falk, Dong Li, Xiaowu Gai, et al.
Trials|December 21, 2024
International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USAJenny Downs, Dominique C Pichard, Walter E Kaufmann, et al.
JIMD Reports|June 30, 2014
Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J Falk, Dong Li, Xiaowu Gai, et al.
Epilepsia|April 28, 2023
Epileptic spasms in CDKL5 deficiency disorder: Delayed treatment and poor response to first-line therapiesHeather E Olson, Scott Demarest, Elia Pestana-Knight, et al.
Pageof 16