Related Experiment Video

Updated: Nov 10, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.1K

Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions

Anne K van Riesen1,2, Saskia Biskup3, Andrea A Kühn4

  • 1Charité - Universitätsmedizin Berlin, Center for Chronically Sick Children Berlin Germany.

Movement Disorders Clinical Practice
|April 5, 2021
PubMed
Abstract

No abstract available in PubMed .

Keywords:
TSFMbasal gangliachorea

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.8K

Related Experiment Videos

Last Updated: Nov 10, 2025

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.9K
Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis
08:59

Real-Time Fluorescent Measurement of Synaptic Functions in Models of Amyotrophic Lateral Sclerosis

Published on: July 16, 2021

2.8K

Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

8.4K
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...
8.4K

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

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

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

Anatomical Localization of Intracranial Electrodes Using Synthetic MRI Generated from Computed Tomography.

Neurosurgery·2026

A Human Gait Circuit Derived from Brain Lesions and Deep Brain Stimulation.

Annals of neurology·2026

Movement dependent neural substates within levodopa-induced dyskinesia in Parkinson's disease.

Brain : a journal of neurology·2026

Artificial intelligence in deep brain stimulation for movement disorders: a systematic review and technology readiness assessment.

NPJ digital medicine·2026

Who Falls After a Stroke? Evidence From a Prospective Stroke Cohort.

European journal of neurology·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

Parieto-occipital interhemispheric transtentorial resection of a falcotentorial solitary fibrous tumor using a 3D-4K exoscope: Technical nuances and illustrative case.

Surgical neurology international·2026

Pediatric Non-Neural Granular Cell Tumor With Unexpected Molecular Identity: A Case That Challenges Classification.

Pediatric dermatology·2026

Nevus Unius Lateris With Epidermolytic Hyperkeratosis Managed With Radiofrequency Ablation: A Case Report.

Cureus·2026

Multiple congenital dermal sinus tracts: a case-based review involving a unique triple-tract configuration that challenges current embryological concepts.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2026

Astrocyte-Predominant Tau Pathology in a Patient With VCP R191Q Variant.

Neuropathology : official journal of the Japanese Society of Neuropathology·2026

Intra-Axial Cerebral Schwannoma in a Child: A Case Report.

Neurology international·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