Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 39 publications
Navigating new motor function trajectories: Consensus recommendations for assessment in the era of newborn screening and early treatment in SMA.
Journal: Journal of neuromuscular diseases
Published: April 07, 2026
New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).
Journal: Journal of neuromuscular diseases
Published: December 30, 2025
Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration.
Journal: Orphanet journal of rare diseases
Published: August 21, 2025
New Clinical Phenotype in a Child Presenting With an FHL1 Mutation.
Journal: Journal of child neurology
Published: May 19, 2025
Characterization of swallowing biomechanics and function in untreated infants with spinal muscular atrophy: A natural history dataset.
Journal: Journal of neuromuscular diseases
Published: February 20, 2025
Access to novel therapies for Duchenne muscular dystrophy-Insights from expert treating physicians.
Journal: Annals of the Child Neurology Society
Published: May 08, 2024
Use of the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND) in Spinal Muscular Atrophy.
Journal: Journal of clinical medicine
Published: December 23, 2023
Prevalence of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in Individuals With Dystrophinopathy at a Tertiary Care Center in Chicago.
Journal: Pediatric neurology
Published: December 21, 2023
A Virtual Reality Exergame: Clinician-Guided Breathing and Relaxation for Children with Muscular Dystrophy.
Journal: 2023 IEEE Conference on Virtual Reality and 3D User Interfaces Abstracts and Workshops (VRW)
Published: November 27, 2023
Predicting outcomes for spinal muscular atrophy: When the diagnosis no longer means what it used to mean.
Journal: British journal of clinical pharmacology
Published: October 23, 2023
A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene.
Journal: Molecular genetics and metabolism reports
Published: October 12, 2023
Last Updated: 09/26/2026