Last Updated: 09/26/2026
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Found 18 publications
Deramiocel heart-derived cellular therapy in advanced Duchenne muscular dystrophy (HOPE-3): a phase 3, randomised, double-blind, placebo-controlled trial.
Journal: Lancet (London, England)
Published: March 26, 2026
Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing.
Journal: Genetics in medicine open
Published: November 01, 2024
Inpatient rehabilitation admission for a patient with spinal muscular atrophy status post gene therapy.
Journal: PM & R : the journal of injury, function, and rehabilitation
Published: December 09, 2022
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Journal: JAMA neurology
Published: August 29, 2022
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 20, 2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Journal: JAMA neurology
Published: August 30, 2021
A population-based study of scoliosis among males diagnosed with a dystrophinopathy identified by the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
Journal: Muscle & nerve
Published: April 13, 2021
Targeted long-read sequencing identifies missing disease-causing variation.
Journal: American journal of human genetics
Published: April 06, 2021
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 24, 2020
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant).
Journal: Neuromuscular disorders : NMD
Published: August 25, 2019
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: May 16, 2019
Last Updated: 09/26/2026