Related Experiment Video

Updated: Apr 11, 2026

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

35.0K

Beta-Propeller-Protein-Associated Neurodegeneration: A Case of Mutation in WDR45

Sook Won Ryu1, Jang Su Kim2, Seung Hwan Lee3

  • 1Department of Laboratory Medicine, Kangwon National University School of Medicine, Chuncheon, Korea.

Journal of Clinical Neurology (Seoul, Korea)
|May 30, 2015
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

6.7K
Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

8.0K

Related Experiment Videos

Last Updated: Apr 11, 2026

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

35.0K
Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae
07:14

Optogenetic Phase Transition of TDP-43 in Spinal Motor Neurons of Zebrafish Larvae

Published on: February 25, 2022

6.7K
Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models
08:33

Characterizing Histone Post-translational Modification Alterations in Yeast Neurodegenerative Proteinopathy Models

Published on: March 24, 2019

8.0K

Related Concept Videos

Amyloid Fibrils03:03

Amyloid Fibrils

13.1K
Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining,...
13.1K

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

How do carbon trading price and carbon tax rate affect power project portfolio investment and carbon emission: An analysis based on uncertainty theory.

Journal of environmental management·2023

Incidence of peripheral vestibular disorders in individuals with obstructive sleep apnea.

Journal of vestibular research : equilibrium & orientation·2021

Non-Invasive Diagnosis for Acute Rejection Using Urinary mRNA Signature Reflecting Allograft Status in Kidney Transplantation.

Frontiers in immunology·2021

The DEAD/DEAH Box Helicase, DDX11, Is Essential for the Survival of Advanced Clear Cell Renal Cell Carcinoma and Is a Determinant of PARP Inhibitor Sensitivity.

Cancers·2021

Diabetic Retinopathy and Hearing Loss: Results from the Fifth Korean National Health and Nutrition Survey.

Journal of clinical medicine·2021

Comparison of Selection Signatures between Korean Native and Commercial Chickens Using 600K SNP Array Data.

Genes·2021

Characteristics and Mechanisms of Aperiodic Alternating Nystagmus.

Journal of clinical neurology (Seoul, Korea)·2026

Clinical Heterogeneity in Vestibular Migraine Diagnosed Using Bárány Society Criteria: Differences According to Caloric-Test-Based Evidence of Peripheral Vestibular Dysfunction.

Journal of clinical neurology (Seoul, Korea)·2026

SoUth Korean study to PrEvent cognitive impaiRment and protect BRAIN health via Behavioral, Optimized, Organized Movement therapy (SUPERBRAIN-BOOM) in Mild Cognitive Impairment: Protocol for a Multicenter, Randomized Controlled Feasibility Trial.

Journal of clinical neurology (Seoul, Korea)·2026

Comparative Prognostic Performance of Hippocampal Volume and Plasma Biomarkers in Amyloid-Negative Subjective Cognitive Decline: A Four-Year Follow-up.

Journal of clinical neurology (Seoul, Korea)·2026

Education Moderates the Biomarker-Cortical-Thickness Relationship in Females With Cognitive Decline: A Descriptive Study With Sex Comparisons.

Journal of clinical neurology (Seoul, Korea)·2026

Effects of Glucagon-Like Peptide-1 Receptor Agonist Use After Transient Ischemic Attack on Risks of Subsequent Ischemic Stroke and Mortality.

Journal of clinical neurology (Seoul, Korea)·2026

Association of Polygenic Risk Score for Suicidal Behavior With Ventral Prefrontal Morphology in Bipolar Disorder.

Bipolar disorders·2026

Disordered eating amongst people who self-harm: An analysis of correlates and outcomes using the Manchester Self-Harm Project data.

Psychology and psychotherapy·2026

Measuring human behavior through controlled perturbations: a framework for reconstructing behavioral systems.

Frontiers in psychology·2026

Genetic liability to addiction underlies comorbid bipolar and substance use disorders.

Biological psychiatry·2026

Toward Personalized Psychotherapy in Anorexia Nervosa: Evidence from Long-Term Moderator Analyses of the ANTOP study.

Psychotherapy and psychosomatics·2026

Mindful Eating, Disordered Eating, and Exercise Addiction: A Bayesian Gaussian Network Analysis.

Nutrients·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