Related Experiment Video

Updated: Sep 2, 2025

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

13.8K

A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy

Shan Ali1, Philip W Tipton1, Shunsuke Koga2

  • 1Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Parkinsonism & Related Disorders
|August 8, 2022
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaCSF1RCSF1R-related leukoencephalopathyColony-stimulating factor 1 receptor

More Related Videos

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

33.9K
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

Related Experiment Videos

Last Updated: Sep 2, 2025

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

13.8K
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

33.9K
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

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

350
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
350

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

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

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

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony-Stimulating Factor-1 Receptor-Related Disorders.

Annals of clinical and translational neurology·2026

Evaluating Glial Fibrillary Acidic Protein and Neurofilament Light as Potential Biomarkers for Spinocerebellar Ataxia 7.

International journal of molecular sciences·2025

Screening for PRKN and PINK1 mutations in Ecuadorian patients with early-onset Parkinson's Disease.

Neurologia i neurochirurgia polska·2025

Multi-tracer PET correlation analysis reveals disease-specific patterns in Parkinson's disease and asymptomatic LRRK2 pathogenic variant carriers compared to healthy controls.

NeuroImage. Clinical·2024

Neuropsychological profile of CSF1R-related leukoencephalopathy.

Frontiers in neurology·2023

Clinical and biomarker predictors of α-synuclein seeding in cognitive impairment and motor parkinsonism.

Parkinsonism & related disorders·2026

Subthalamic nucleus beta oscillations and sleep disorders in Parkinson's disease: A new perspective on deep brain stimulation regulation mechanisms and circuits.

Parkinsonism & related disorders·2026

MRI-derived choroid plexus volume and longitudinal cognitive decline in Parkinson's disease.

Parkinsonism & related disorders·2026

Hope or hype: novel disease-modifying treatments for Huntington disease.

Parkinsonism & related disorders·2026

Disentangling amantadine response variability in levodopa related dyskinesias: Role of clinical and genetic factors.

Parkinsonism & related disorders·2026

Plantar-predominant sudomotor dysfunction in multiple system atrophy: a Sudoscan and 123I-MIBG myocardial scintigraphy study.

Parkinsonism & related disorders·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