Last Updated: 09/26/2026
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Found 15 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
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the DMD Gene.
Journal: International journal of molecular sciences
Published: October 08, 2024
Access to novel therapies for Duchenne muscular dystrophy-Insights from expert treating physicians.
Journal: Annals of the Child Neurology Society
Published: May 08, 2024
Epithelioid neoplasm of the spinal cord in a child with spinal muscular atrophy treated with onasemnogene abeparvovec.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: June 07, 2023
Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology.
Journal: AJNR. American journal of neuroradiology
Published: December 28, 2021
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Journal: American journal of medical genetics. Part A
Published: December 12, 2019
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Journal: Molecular genetics and metabolism
Published: February 06, 2018
Identification of novel candidate disease genes from de novo exonic copy number variants.
Journal: Genome medicine
Published: April 12, 2017
Outcomes of thoracoscopic thymectomy in patients with juvenile myasthenia gravis.
Journal: Journal of pediatric surgery
Published: August 24, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome.
Journal: Investigative ophthalmology & visual science
Published: June 20, 2015
Last Updated: 09/26/2026