Last Updated: 09/26/2026
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Found 7 publications
Access to novel therapies for Duchenne muscular dystrophy-Insights from expert treating physicians.
Journal: Annals of the Child Neurology Society
Published: May 08, 2024
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Journal: Brain : a journal of neurology
Published: October 05, 2022
Erythromelalgia: A Child With V400M Mutation in the SCN9A Gene.
Journal: Neurology. Genetics
Published: October 14, 2020
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 25, 2020
Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation.
Journal: Neurology. Genetics
Published: July 10, 2018
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Last Updated: 09/26/2026