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

Andrea Gropman

Showing results (21-30 of 86) with videos related to

Pageof 9
Sort By:
Genes|January 28, 2026
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene RegistryShivani Waghmare, Alexa M Taylor, Cecilia Bouska, et al.
American Journal of Medical Genetics. Part A|February 3, 2016
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speechCarole Samango-Sprouse, Patrick Lawson, Courtney Sprouse, et al.
Child Neurology Open|March 1, 2021
The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 DeficiencyMeaghan McGowan, Carlos Ferreira, Matthew Whitehead, et al.
Mitochondrion|June 12, 2018
The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysisMartine Uittenbogaard, Christine A Brantner, ZiShui Fang, et al.
Neurocritical Care|August 14, 2024
Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 YearsKuntal Sen, Dana Harrar, Nicole Pariseau, et al.
Mitochondrion|September 21, 2005
The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relativesBarbara C Levin, Kazumasa Sekiguchi, Lois A Tully, et al.
Molecular Genetics and Metabolism Reports|June 4, 2020
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhoodAndrea Gropman, Martine Uittenbogaard, Christine A Brantner, et al.
Molecular Omics|January 4, 2022
Integrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELASHaorong Li, Martine Uittenbogaard, Ryan Navarro, et al.
Frontiers in Neurology|September 14, 2020
Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case StudyAfrouz A Anderson, Andrea Gropman, Cynthia Le Mons, et al.
Molecular Genetics and Metabolism|June 18, 2026
fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD)Kosar Khaksari, Karis Tucker, Chad Blackshear, et al.
Pageof 9

Showing results (21-30 of 86) with videos related to

Sort By:
Pageof 9
Genes|January 28, 2026
The Role of Genetic Testing in Pediatric Expressive Language Delay: Evidence from the National Brain Gene RegistryShivani Waghmare, Alexa M Taylor, Cecilia Bouska, et al.
American Journal of Medical Genetics. Part A|February 3, 2016
Expanding the phenotypic profile of Kleefstra syndrome: A female with low-average intelligence and childhood apraxia of speechCarole Samango-Sprouse, Patrick Lawson, Courtney Sprouse, et al.
Child Neurology Open|March 1, 2021
The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 DeficiencyMeaghan McGowan, Carlos Ferreira, Matthew Whitehead, et al.
Mitochondrion|June 12, 2018
The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysisMartine Uittenbogaard, Christine A Brantner, ZiShui Fang, et al.
Neurocritical Care|August 14, 2024
Seizure Characteristics and EEG Features in Intoxication Type and Energy Deficiency Neurometabolic Disorders in the Pediatric Intensive Care Unit: Single-Center Experience Over 10 YearsKuntal Sen, Dana Harrar, Nicole Pariseau, et al.
Mitochondrion|September 21, 2005
The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relativesBarbara C Levin, Kazumasa Sekiguchi, Lois A Tully, et al.
Molecular Genetics and Metabolism Reports|June 4, 2020
Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhoodAndrea Gropman, Martine Uittenbogaard, Christine A Brantner, et al.
Molecular Omics|January 4, 2022
Integrated proteomic and metabolomic analyses of the mitochondrial neurodegenerative disease MELASHaorong Li, Martine Uittenbogaard, Ryan Navarro, et al.
Frontiers in Neurology|September 14, 2020
Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case StudyAfrouz A Anderson, Andrea Gropman, Cynthia Le Mons, et al.
Molecular Genetics and Metabolism|June 18, 2026
fNIRS insights into brain biomarkers of maple syrup urine disease (MSUD)Kosar Khaksari, Karis Tucker, Chad Blackshear, et al.
Pageof 9