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
Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.
Mei D et al.
Orphanet Journal of Rare Diseases, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Novel Mutation at Cys225 in GNAO1-Associated Developmental and Epileptic Encephalopathies: Clinical, Molecular, and Pharmacological Profiling of Case Studies.
Larasati YA et al.
Medcomm, 2025
Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case.
Larasati YA et al.
Med (new York, N.y.), 2025
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort.
Akter H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.
Yadav S et al.
Frontiers in Cellular Neuroscience, 2025
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
Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP et al.
The Journal of Clinical Investigation, 2024
Deep Brain Stimulation for GNAO1-Associated Dystonia: A Systematic Review and Meta-Analysis.
Decraene B et al.
Neuromodulation : Journal of the International Neuromodulation Society, 2024
Molecular annotation of G protein variants in a neurological disorder.
Knight KM et al.
Cell Reports, 2023
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments.
Novelli M et al.
Parkinsonism & Related Disorders, 2023
Visual Function in Children with GNAO1-Related Encephalopathy.
Gambardella ML et al.
Genes, 2023
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.
Garofalo M et al.
Neuropediatrics, 2023
GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.
JoJo Yang QZ et al.
Epilepsy & Behavior Reports, 2023
Phenotypes in children with GNAO1 encephalopathy in China.
Li Y et al.
Frontiers in Pediatrics, 2023
Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.
Sáez González M et al.
Human Mutation, 2023
Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.
Ling W et al.
Translational Pediatrics, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 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
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
Deep brain stimulation in a young child with GNAO1 mutation - Feasible and helpful.
Fung EL et al.
Surgical Neurology International, 2022
Motor, epileptic, and developmental phenotypes in genetic disorders affecting G protein coupled receptors-cAMP signaling.
Galosi S et al.
Frontiers in Neurology, 2022
Diagnostic yield of genetic testing in 324 infants with hypotonia.
Sharma S et al.
Clinical Genetics, 2021
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders.
Muntean BS et al.
Cell Reports, 2021
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Graziola F et al.
Frontiers in Genetics, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019