Related Experiment Video

Updated: Jul 10, 2025

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

35.8K

New Horizons on the Diagnosis of Hereditary Ataxia

Luiz Eduardo Novis1, Salmo Raskin2, Helio A G Teive3

  • 1Neurodegenerative Diseases Group, Post-Graduate Program in Internal Medicine, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

Movement Disorders Clinical Practice
|November 20, 2023
PubMed
Abstract

No abstract available in PubMed .

Keywords:
functional genomicshereditary ataxianext generation sequencing

More Related Videos

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
08:41

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

Published on: December 27, 2024

1.5K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.7K

Related Experiment Videos

Last Updated: Jul 10, 2025

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

35.8K
Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
08:41

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration

Published on: December 27, 2024

1.5K
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

7.7K

Related Concept Videos

Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

905
Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
905

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

Exploring the genetic spectrum of parkinsonism in Brazil.

Parkinsonism & related disorders·2026

Longitudinal Dynamics of Polyglutamine-Expanded ATXN3 in Biofluids of Spinocerebellar Ataxia Type 3.

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

Ozzy Osbourne and Parkinson's disease: from darkness to awareness.

Arquivos de neuro-psiquiatria·2026

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

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

Cerebral palsy in art and literature throughout history.

Arquivos de neuro-psiquiatria·2026

Isaac Newton's description of the optic chiasm.

Arquivos de neuro-psiquiatria·2026

Understanding Neuropsychiatric Fluctuations in Parkinson's Disease: From Mechanisms to Management.

Movement disorders clinical practice·2026

Sleep-Autonomic Interactions in Parkinson's Disease and Multiple System Atrophy: A Comparative Study Using Structural Equation Modeling.

Movement disorders clinical practice·2026

Minimal Clinically Important Difference in TETRAS Score for Essential Tremor.

Movement disorders clinical practice·2026

Depression in Parkinson's Disease: Real-World Prescribing Patterns and Treatment Dynamics from a Nationwide Greek Cohort.

Movement disorders clinical practice·2026

Lipid-Related Metabolic Dysregulation Affects Survival in Idiopathic Normal Pressure Hydrocephalus.

Movement disorders clinical practice·2026

Dissociable Handwriting Domains in Parkinson's Disease?

Movement disorders clinical practice·2026

Nontruncating FRMD7 Variants Are More Penetrant than Truncating Variants in Heterozygous Female Carriers of Infantile Nystagmus.

Ophthalmology science·2026

Zygosity-Dependent Phenotypic Spectrum of RELN-Related Disorders: 10 New Patients and Genotype-Phenotype Correlations Across 48 Kindreds.

Human mutation·2026

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening.

European journal of human genetics : EJHG·2026

Genetic and pharmacological evidence linking CB1R signaling to hippocampal GABAergic dysfunction in ASD mouse model.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics·2026

Multi-omics Insights into Oxidative Stress-related Genes and Neurodegenerative Diseases: From Epigenetic Regulation to Pathogenic Pathways.

Journal of molecular neuroscience : MN·2026

Nav1.5 Beyond Genetics: Loss of Cardiac Sodium-Channel Function in Brugada Syndrome.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology·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