Associated Papers
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.
Wang T et al.
Epilepsia, 2025
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
The Spectrum of GNAO1 Mutation Can Include Childhood-Onset Isolated Generalized Dystonia.
Chowdhury S et al.
Movement Disorders Clinical Practice, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Lasa-Aranzasti A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
GNAO1 Mutations Affecting the N-Terminal α-Helix of Gαo Lead to Parkinsonism.
Solis GP et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Novelli M et al.
Parkinsonism & Related Disorders, 2023
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Koval A et al.
Med (new York, N.y.), 2023
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa.
Vasconcellos LF et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2023
Phenotypes in children with GNAO1 encephalopathy in China.
Li Y et al.
Frontiers in Pediatrics, 2023
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Holborn MA et al.
Genomics, 2022
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.
Al Masseri Z et al.
Molecular Genetics and Metabolism Reports, 2022
An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation.
Miyamoto S et al.
Neurogenetics, 2022
Both subthalamic and pallidal deep brain stimulation are effective for GNAO1-associated dystonia: three case reports and a literature review.
Liu Y et al.
Therapeutic Advances in Neurological Disorders, 2022
Phenotypes of GNAO1 Variants in a Chinese Cohort.
Yang X et al.
Frontiers in Neurology, 2021