Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy

Hannah Jones, Marion Stoll, Gladys Ho, Dugald O'Neill, Velda X. Han, Simon Paget, Kirsty Stewart, Jennifer Lewis, Kavitha Kothur, Christopher Troedson, Yanick J. Crow, Russell C. Dale, Shekeeb S. Mohammad

2021Brain and Development12 citationsDOI Open Access PDF

Topics & Concepts

ADARParaplegiaHereditary spastic paraplegiaMedicinePenetranceAsymptomaticSpasticCerebral palsyInternal medicineGeneticsPhysical therapyBiologySpinal cordPhenotypeRNA editingPsychiatryMessenger RNAGeneinterferon and immune responsesRNA regulation and diseaseProtein Tyrosine Phosphatases

Autosomal dominant ADAR c.3019G&gt;A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy

Topics & Concepts

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy