Related Experiment Video

Updated: Sep 24, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.0K

Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice

Patricio Millar Vernetti1, María Agustina Ruiz Yanzi2, Malco Rossi1,3

  • 1Movement Disorders Clinic, Neurology Department, Fleni, Buenos Aires, Argentina.

Tremor and Other Hyperkinetic Movements (New York, N.Y.)
|May 9, 2022
PubMed
Abstract

No abstract available in PubMed .

Keywords:
WEScontroversiesdiagnosisgeneticswhole-exome sequencing

More Related Videos

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
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

34.1K

Related Experiment Videos

Last Updated: Sep 24, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.0K
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
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

34.1K

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

8.1K
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...
8.1K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.5K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
14.5K

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

Design and Validation of an Instrument to Assess Awake Bruxism in Adults.

Acta odontologica latinoamericana : AOL·2026

Comparative Analysis of L-Dopa and Deep Brain Stimulation on Bradykinesia Components in Parkinson's Disease.

Movement disorders clinical practice·2026

Prospective Validation of the Movement Disorder Society Prodromal Multiple System Atrophy Criteria in Pure Autonomic Failure.

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

Levodopa-Induced dyskinesia in Latin America: Prevalence and associated clinical factors in the LARGE-PD cohort.

Journal of Parkinson's disease·2026

Systematic review of movement disorders mislabeled as functional: when incongruence misleads.

Journal of neurology·2026

Multiple System Atrophy Combined Outcome Assessment (MuSyCA): process, format, and validation plan.

Clinical autonomic research : official journal of the Clinical Autonomic Research Society·2026

Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026

Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026

Sleep Disturbances and Their Correlates in Essential Tremor and Essential Tremor Plus: A Questionnaire-Based Case-Control Study.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026

Spectrum of Dystonia in Progressive Supranuclear Palsy: A Prospective Observational Study and Review of Literature.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026

Prevalence of Probable REM Sleep Behavior Disorder in Essential Tremor.

Tremor and other hyperkinetic movements (New York, N.Y.)·2026

Lansoprazole-Induced Myoclonus.

Tremor and other hyperkinetic movements (New York, N.Y.)·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