Imelda Hughes
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 31 publications
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Journal: Journal of neuromuscular diseases
Published: January 08, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.
Journal: Neurology. Clinical practice
Published: October 23, 2023
Fifteen-minute consultation: Approach to a child with congenital insensitivity to pain.
Journal: Archives of disease in childhood. Education and practice edition
Published: October 19, 2023
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Journal: The Lancet regional health. Europe
Published: September 26, 2023
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
Journal: JAMA
Published: April 05, 2022
Prediagnosis pathway benchmarking audit in patients with Duchenne muscular dystrophy.
Journal: Archives of disease in childhood
Published: December 18, 2020
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Journal: American journal of medical genetics. Part A
Published: July 15, 2020
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Journal: Annals of neurology
Published: February 05, 2020
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Journal: Neuromuscular disorders : NMD
Published: December 04, 2019
Last Updated: 09/26/2026