Associated Papers
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.
Shomer I et al.
Molecular Therapy. Nucleic Acids, 2025
Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.
Yadav S et al.
Frontiers in Cellular Neuroscience, 2025
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant.
Falsaperla R et al.
Molecular Diagnosis & Therapy, 2024
CRISPR/Cas9-generated mouse model with humanizing single-base substitution in the Gnao1 for safety studies of RNA therapeutics.
Polikarpova AV et al.
Frontiers in Genome Editing, 2023
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.
Sáez González M et al.
Human Mutation, 2023
Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation.
Silachev D et al.
Acta Neuropathologica Communications, 2022
Mice with GNAO1 R209H Movement Disorder Variant Display Hyperlocomotion Alleviated by Risperidone.
Larrivee CL et al.
The Journal of Pharmacology and Experimental Therapeutics, 2020
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
Kelly M et al.
Epilepsia, 2019
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.
Feng H et al.
Plos One, 2019
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
Abela L et al.
Journal of Inherited Metabolic Disease, 2018
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Gerald B et al.
Seminars in Pediatric Neurology, 2018
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.
Feng H et al.
Neurology, 2017
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti FR et al.
Neurology. Genetics, 2017
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.
Marcé-Grau A et al.
Orphanet Journal of Rare Diseases, 2016
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H et al.
European Journal of Human Genetics : Ejhg, 2016
Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.
Galanopoulou AS et al.
Neurobiology of Disease, 2015
Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?
Kehrl JM et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2014