Related Experiment Video

Updated: Aug 1, 2026

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

Selection for presymptomatic testing for Huntington's disease: who decides?

J Binedell, J R Soldan, P S Harper

    Journal of Medical Genetics
    |February 1, 1996
    PubMed
    Summary

    No abstract available in PubMed .

    Keywords:
    Genetics and Reproduction

    More Related Videos

    Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
    09:06

    Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

    Published on: June 9, 2018

    A Machine Learning Approach to Design an Efficient Selective Screening of Mild Cognitive Impairment
    12:18

    A Machine Learning Approach to Design an Efficient Selective Screening of Mild Cognitive Impairment

    Published on: January 11, 2020

    Related Experiment Videos

    Last Updated: Aug 1, 2026

    Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
    09:38

    Generalized Psychophysiological Interaction (PPI) Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

    Published on: November 14, 2017

    Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease
    09:06

    Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

    Published on: June 9, 2018

    A Machine Learning Approach to Design an Efficient Selective Screening of Mild Cognitive Impairment
    12:18

    A Machine Learning Approach to Design an Efficient Selective Screening of Mild Cognitive Impairment

    Published on: January 11, 2020

    Related Concept Videos

    Genetic Lingo01:11

    Genetic Lingo

    Overview
    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

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

    Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France.

    Clinical genetics·2017

    Psychological Model for Presymptomatic Test Interviews: Lessons Learned from Huntington Disease.

    Journal of genetic counseling·2015

    Nonparticipation in Huntington's Disease Predictive Testing: Reasons for Caution in Interpreting Findings.

    Journal of genetic counseling·2015

    Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.

    Muscle & nerve. Supplement·2013

    Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).

    Muscle & nerve. Supplement·2013

    A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?

    Journal of neurology, neurosurgery, and psychiatry·2006

    Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

    Journal of medical genetics·2026

    Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

    Journal of medical genetics·2026

    Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

    Journal of medical genetics·2026

    Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

    Journal of medical genetics·2026

    Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

    Journal of medical genetics·2026

    Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

    Journal of medical genetics·2026

    A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye.

    Molecular syndromology·2026

    Hippocampal Subfield Volumetry and Navigation in Congenital Blindness.

    Hippocampus·2026

    Genetic burden of rare leptin-melanocortin variants in pediatric nonsyndromic obesity: Evidence from a Taiwanese cohort.

    Obesity research & clinical practice·2026

    A Phenotype-Based Score to Prioritize RNF213 p.R4810K Genotyping in Isolated Intracranial Steno-Occlusive Disease.

    Translational stroke research·2026

    Genetically inferred effects of brain structure and gene expression on neurodegenerative diseases: a Mendelian randomization study.

    Archives of medical science : AMS·2026

    Genomic findings in non-cryptogenic cerebral palsy: a systematic review and meta-analysis.

    Frontiers in neurology·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