Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Clinical telemonitoring and telerehabilitation of cognition in rare neurological diseases: a scoping review.

Journal of neurology·2026

Same author

POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.

Molecular genetics and metabolism reports·2026

Same author

A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicine.

American journal of human genetics·2026

Same author

Effects of a Mitochondrial Genetic Variant on Sevoflurane Hypersensitivity.

Anesthesiology·2026

Search research articles

Related Experiment Video

Updated: Oct 19, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

Editorial: Pediatric Neurometabolic Disorders

Brahim Tabarki¹, Juan Dario Ortigoza-Escobar², Wang-Tso Lee³

¹Division of Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Frontiers in Neurology

|September 24, 2021

Summary

No abstract available in PubMed .

Keywords:

inherited neurometabolic disorders leukodystrophy mitochondrial disease movement disorders stroke

More Related Videos

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020

Related Experiment Videos

Last Updated: Oct 19, 2025

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

Published on: September 20, 2024

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Analyzing Mitochondrial Transport and Morphology in Human Induced Pluripotent Stem Cell-Derived Neurons in Hereditary Spastic Paraplegia

Published on: February 9, 2020