Associated Papers
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable Causes.
Adarsha N et al.
Clinical Genetics, 2025
Neuronal oscillatory imbalances in GNAO1-related disorders associated with disease severity.
Wang T et al.
Epilepsia, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
GoLoco/GPR motif-dependent regulation of Rap1GAP1 by Gαo is disrupted by Gαo encephalopathy variants.
Momplaisir NL et al.
The Journal of Biological Chemistry, 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
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.
Shomer I et al.
Molecular Therapy. Nucleic Acids, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
Zinc for GNAO1 encephalopathy: Preclinical profiling and a clinical case.
Larasati YA et al.
Med (new York, N.y.), 2025
Decoding GNAO1 mutations using Caenorhabditis elegans model system: past approaches and future prospectives.
Yadav S et al.
Frontiers in Cellular Neuroscience, 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
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
AAV9-Mediated Intrastriatal Delivery of GNAO1 Reduces Hyperlocomotion in Gnao1 Heterozygous R209H Mutant Mice.
Roy AJ et al.
The Journal of Pharmacology and Experimental Therapeutics, 2024
Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP et al.
The Journal of Clinical Investigation, 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
[Genetic analysis of a child with early onset neurodevelopmental disorder with involuntary movement and a literature review].
Hu W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
Phenotypic Assessment of Pathogenic Variants in GNAO1 and Response to Caffeine in C. elegans Models of the Disease.
Di Rocco M et al.
Genes, 2023
GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.
JoJo Yang QZ et al.
Epilepsy & Behavior Reports, 2023
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
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
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
Restoration of the GTPase activity and cellular interactions of Gαo mutants by Zn2+ in GNAO1 encephalopathy models.
Larasati YA et al.
Science Advances, 2022
Treating GNAO1 mutation-related severe movement disorders with oxcarbazepine: a case report.
Ling W et al.
Translational Pediatrics, 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
Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia.
Di Rocco M et al.
Human Molecular Genetics, 2022
Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction.
Wang D et al.
Human Molecular Genetics, 2022
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
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
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Solis GP et al.
Cells, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T et al.
Clinical Genetics, 2021
GNAO1 mutation-related severe involuntary movements treated with gabapentin.
Akasaka M et al.
Brain & Development, 2021
Phenotypes of GNAO1 Variants in a Chinese Cohort.
Yang X et al.
Frontiers in Neurology, 2021
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis.
Kim SY et al.
Orphanet Journal of Rare Diseases, 2020
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
Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.
Feng H et al.
Plos One, 2019
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.
Blumkin L et al.
Neuropediatrics, 2018
Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations.
Feng H et al.
Neurology, 2017
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
Sakamoto S et al.
Brain & Development, 2017