Associated Papers
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
Molecular annotation of G protein variants in a neurological disorder.
Knight KM et al.
Cell Reports, 2023
37980565 (PubMed )
Supplement: NIHMS1950750-supplement-Suppl__material.zip › 1-s2.0-S2211124723014742-mmc6.pdf
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
Gonadal mosaicism in GNAO1 causing neurodevelopmental disorder with involuntary movements; two additional variants.
Al Masseri Z et al.
Molecular Genetics and Metabolism Reports, 2022
Phenotypes of GNAO1 Variants in a Chinese Cohort.
Yang X et al.
Frontiers in Neurology, 2021
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