Related Experiment Video

Updated: Nov 29, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K

Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder

Liedewei Van de Vondel1,2, Jonathan Baets1,2,3, Danique Beijer1,2

  • 1Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Belgium.

Brain : a Journal of Neurology
|November 18, 2020
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K

Related Experiment Videos

Last Updated: Nov 29, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.0K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.1K

Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

23.9K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
23.9K

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

Clinical, histopathological, and biomarker characterization of XLMTM and ADCNM: Operational lessons, screening and baseline data of the Unite-CNM study.

Journal of neuromuscular diseases·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Establishment and characterization of three human pluripotent stem cell lines from patients with spinocerebellar ataxia 27B (SCA27B).

Stem cell research·2026

Establishment and characterization of two human pluripotent stem cell lines from patients with ATX-FGF14/spinocerebellar ataxia 27A (SCA27A).

Stem cell research·2026

Convergent human genetic evidence implicates serine biosynthesis in diabetic peripheral neuropathy.

medRxiv : the preprint server for health sciences·2026

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

JIMD reports·2026

De novo chromatin remodelling variants in sporadic Chiari 1 malformation.

Brain : a journal of neurology·2026

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Brain : a journal of neurology·2026

Diabetes and neurodegeneration in cognitively unimpaired older adults: implications for cognition.

Brain : a journal of neurology·2026

Lytic Epstein-Barr virus infection and emerging autoantibodies precede multiple sclerosis prodrome.

Brain : a journal of neurology·2026

Divergent tau pathology profiles induced by distinct alpha-synuclein aggregates in non-human primates.

Brain : a journal of neurology·2026

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Brain : a journal of neurology·2026

Decoding neuronal vulnerability: Multidimensional analysis of D1R- and D2R- medium-sized spiny neurons in Huntington's disease.

Brain pathology (Zurich, Switzerland)·2026

Intranasal Administration of an Arginine-Enriched Penetratin Peptide Confers Neuroprotection via Mitochondrial Functional Modulation in a Genetic Parkinson's Disease Model.

CNS neuroscience & therapeutics·2026

Clinical Patterns, Complications, and Long-Term Visual Outcomes of Fuchs' Uveitis Syndrome in Turkish Population: Retrospective Study in a Tertiary Uveitis Referral Center.

Turkish journal of ophthalmology·2026

Metabolic pharmacology of anthelmintic drugs targeting mitochondrial fumarate reductase in neurocysticercosis.

Drug metabolism reviews·2026

Proteostasis breakdown and aggregate diversity in aging and neurodegenerative disease.

Frontiers in aging neuroscience·2026

Structural, functional and neurochemical imaging mapping of non-motor symptoms in Parkinson's disease.

Brain communications·2026
See all related articles
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
Jove
Visualize
Contact Us