Related Experiment Video

Updated: Aug 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report

Quentin Thomas1,2,3, Antonio Vitobello4,5, Agnès Fromont6

  • 1Inserm UMR1231 Team GAD, University of Burgundy and Franche-Comté, 21000, Dijon, Besançon, France. quentin.thomas@chu-dijon.fr.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|January 5, 2023
PubMed
Abstract

No abstract available in PubMed .

More Related Videos

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

36.1K
Cerebellar Regional Dissection for Molecular Analysis
08:51

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

4.9K

Related Experiment Videos

Last Updated: Aug 15, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K
A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
07:33

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

36.1K
Cerebellar Regional Dissection for Molecular Analysis
08:51

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

4.9K

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

7.8K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.8K

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

Diagnostic pathways in developmental disorders: a decade-apart comparison of two multicenter cohorts (2012-2022).

European journal of human genetics : EJHG·2026

Serum GFAP and Age Accurately Distinguish AQP4-IgG Positive and Double Seronegative NMOSD From MOGAD After a Recent Attack.

European journal of neurology·2026

ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 (SCA48/STUB1).

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

TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome.

Frontiers in cell and developmental biology·2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

American journal of human genetics·2026

Disease characteristics of SEPSECS deficiency: An international, retrospective, multicenter cohort study.

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

Long-term trends in selected neurological disorders in Italy (1990-2023): analysis of the global burden of disease (GBD) 2023 data.

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

Organizing healthcare delivery in the era of disease-modifying therapies for Alzheimer's Disease: an Italian RAND/UCLA consensus.

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

Clinical features of cough syncope: a systematic review.

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

A novel oxidative-inflammatory biomarker for Parkinson's disease: clinical utility of the uric acid-to-albumin ratio.

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

Glymphatic function in humans: indicators, modulators, and measurement strategies.

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

Indomethacin testing in suspected paroxysmal hemicrania and hemicrania continua: Clinical phenotypes and response patterns in a tertiary headache centre.

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

The genetic landscape of myotonic dystrophy type 1: insights from nearly one million genomes.

Brain : a journal of neurology·2026

Cardiac phenotype in children with X-linked ichthyosis (STS-sEDD): findings from a prospective cohort.

European journal of pediatrics·2026

Preoperative diabetes status, circulating GDF15, and weight loss after sleeve gastrectomy.

Surgical endoscopy·2026

PNLDC1 deadenylase affects translational rate and cell proliferation in mESCs.

RNA (New York, N.Y.)·2026

Exploring potential association between bisphenol A exposure and spondyloarthritis: Integrative evidence from molecular analyses and NHANES.

Chemico-biological interactions·2026

From iPSC Disease Modeling to Epigenome Editing: Toward Therapeutic Reversal of Genomic Imprinting Disorders.

Neuroscience research·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