Related Experiment Video

Updated: Aug 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.9K

Reply to Letter: Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant

Igor Straka1, Jana Švantnerová1, Michael Zech2,3

  • 1Second Department of Neurology, Faculty of Medicine, Comenius University, University Hospital Bratislava, Bratislava, Slovakia.

Movement Disorders : Official Journal of the Movement Disorder Society
|November 14, 2022
PubMed
Abstract

No abstract available in PubMed .

Keywords:
NAA15dystonianeurodevelopmental disordervariable expressivity

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

13.8K
Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

16.4K

Related Experiment Videos

Last Updated: Aug 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.9K
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

13.8K
Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

16.4K

Related Concept Videos

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin01:26

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin

726
Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...
726

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

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Clinical genetics·2026

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Human mutation·2026

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Movement disorders : official journal of the Movement Disorder Society·2026

Reflexive eye movement alterations are related to subclinical impulsive-compulsive behaviors in Parkinson's disease.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2026

Episodic migraine is associated with a more atherogenic lipid profile rather than independent insulin resistance: a case-control study.

Lipids in health and disease·2026

Atypical Atypical MECP2-Related Rett Syndrome Presenting with Movement Disorders- Predominating Phenotype.

Movement disorders clinical practice·2026

Efficacy and Safety of DL-3-n-Butylphthalide in Spinocerebellar Ataxia Type 3.

Movement disorders : official journal of the Movement Disorder Society·2026

A De Novo 16p13.3 Triplication Underlying Early-Onset Complex Neurodegeneration.

Movement disorders : official journal of the Movement Disorder Society·2026

Novel and Emerging Therapies for Childhood-Onset Movement Disorders.

Movement disorders : official journal of the Movement Disorder Society·2026

Selectivity Filter KCND3 Variant Causes Spinocerebellar Ataxia 19/22 and KV4.3 Functional Loss.

Movement disorders : official journal of the Movement Disorder Society·2026

Longitudinal Iron Changes in the Substantia Nigra of Early-Stage Parkinson's Disease.

Movement disorders : official journal of the Movement Disorder Society·2026

Spatiotemporal Tau Accumulation and its Clinical Impact on Progressive Supranuclear Palsy: Longitudinal Florzolotau (18F) Positron Emission Tomography.

Movement disorders : official journal of the Movement Disorder Society·2026

Concomitant PLACK Syndrome, MYBPC3-Related Cardiomyopathy, and Nutritional Deficiency.

Pediatric dermatology·2026

Twice Unlucky - Bilateral Basal Ganglia Stroke After Minor Head Injury in Children With Mineralizing Lenticulostriate Vasculopathy.

Pediatric neurology·2026

Systematic Review: Pediatric Patulous Eustachian Tube Dysfunction-An Underestimated Entity in Otolaryngology.

The journal of international advanced otology·2026

Pyoderma gangrenosum following pelvic and femoral osteotomy in an 8-Year-Old Girl with Cri-du-chat syndrome: A case report.

JPRAS open·2026

Pediatric hepatic sarcoidosis presenting as hypersplenism and portal hypertension.

BMJ case reports·2026

Giant Cell Tumor of the Distal Humerus: A Rare Location With a Good Response to Denosumab.

Cureus·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