Jove
Visualize
Contact Us
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

Related Concept Videos

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

2.0K
Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.0K
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

1.0K
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...
1.0K

You might also read

Related Articles

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

Sort by
Same author

A p53-ΔNp73 signaling axis drives selective motor neuron degeneration in spinal muscular atrophy.

bioRxiv : the preprint server for biology·2026
Same author

Efficacy and safety of risdiplam in patients with type 1 spinal muscular atrophy: a 3-year open-label extension of the two-part, phase 2 FIREFISH trial.

The Lancet. Child & adolescent health·2026
Same author

Multifrequency Electrical Impedance Myography Enhanced with Machine Learning for Screening Patients with Neuromuscular Disorders.

Annals of biomedical engineering·2026
Same author

Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1.

Muscle & nerve·2026
Same author

A standardized framework resolves ambiguity in motor neuron loss across neurodegenerative diseases.

bioRxiv : the preprint server for biology·2026
Same author

Author Correction: High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial.

Nature medicine·2026

Related Experiment Video

Updated: Jul 23, 2025

Author Spotlight: Studying Neuromuscular Responses and Motor Neuron Plasticity in Neurodegenerative Diseases
06:08

Author Spotlight: Studying Neuromuscular Responses and Motor Neuron Plasticity in Neurodegenerative Diseases

Published on: April 19, 2024

424

Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.

Jacqueline Glascock1, Basil T Darras2, Thomas O Crawford3

  • 1Cure SMA, Elk Grove Village, IL, USA.

Journal of Neuromuscular Diseases
|July 17, 2023
PubMed
Summary
This summary is machine-generated.

Neurofilament (NF) shows promise as a biomarker for spinal muscular atrophy (SMA), aiding in diagnosis and treatment response. Further research is needed to validate NF

Keywords:
Spinal muscular atrophy (SMA)biomarkermotor neuron diseaseneurofilament (NF)

More Related Videos

Home-Based Monitor for Gait and Activity Analysis
07:24

Home-Based Monitor for Gait and Activity Analysis

Published on: August 8, 2019

6.8K
Electrophysiological Motor Unit Number Estimation MUNE Measuring Compound Muscle Action Potential CMAP in Mouse Hindlimb Muscles
09:07

Electrophysiological Motor Unit Number Estimation MUNE Measuring Compound Muscle Action Potential CMAP in Mouse Hindlimb Muscles

Published on: September 25, 2015

21.3K

Related Experiment Videos

Last Updated: Jul 23, 2025

Author Spotlight: Studying Neuromuscular Responses and Motor Neuron Plasticity in Neurodegenerative Diseases
06:08

Author Spotlight: Studying Neuromuscular Responses and Motor Neuron Plasticity in Neurodegenerative Diseases

Published on: April 19, 2024

424
Home-Based Monitor for Gait and Activity Analysis
07:24

Home-Based Monitor for Gait and Activity Analysis

Published on: August 8, 2019

6.8K
Electrophysiological Motor Unit Number Estimation MUNE Measuring Compound Muscle Action Potential CMAP in Mouse Hindlimb Muscles
09:07

Electrophysiological Motor Unit Number Estimation MUNE Measuring Compound Muscle Action Potential CMAP in Mouse Hindlimb Muscles

Published on: September 25, 2015

21.3K

Area of Science:

  • Neurology
  • Genetics
  • Biomarker Discovery

Background:

  • Spinal muscular atrophy (SMA) results from SMN1 gene mutations, causing motor neuron degeneration and muscle weakness.
  • Disease severity and treatment responses in SMA are highly variable and not fully understood.
  • Validated biomarkers are crucial for SMA diagnosis, prognosis, and treatment optimization.

Purpose of the Study:

  • To identify the most promising biomarker candidate for SMA.
  • To pinpoint knowledge gaps in biomarker validation.
  • To recommend next steps for SMA biomarker development.

Main Methods:

  • A modified Delphi process involving 11 multidisciplinary experts.
  • Six rounds of iterative surveys to reach consensus on SMA biomarkers.

Main Results:

  • Neurofilament (NF) was identified as the leading candidate biomarker for SMA.
  • Key knowledge gaps regarding NF as an SMA biomarker were identified.
  • Proposed strategies to address identified knowledge gaps were outlined.

Conclusions:

  • Neurofilament (NF) demonstrates potential as a prognostic, predictive, and pharmacodynamic biomarker for SMA.
  • Essential information for validating NF as an SMA biomarker has been identified.
  • Continued efforts are recommended to validate NF for clinical use in SMA.