Associated Papers
Dominant Gα mutations in human disease: unifying mechanisms and treatment strategies.
Katanaev VL et al.
Embo Molecular Medicine, 2025
40745211 (PubMed )
Supplement: 44321_2025_274_MOESM1_ESM.pdf
Neomorphic Gαo mutations gain interaction with Ric8 proteins in GNAO1 encephalopathies.
Solis GP et al.
The Journal of Clinical Investigation, 2024
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
36654732 (PubMed )
Supplement: mmc1.xlsx › Draft
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
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
Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders.
Muntean BS et al.
Cell Reports, 2021
A case of severe movement disorder with GNAO1 mutation responsive to topiramate.
Sakamoto S et al.
Brain & Development, 2017
Excellent response to deep brain stimulation in a young girl with GNAO1-related progressive choreoathetosis.
Yilmaz S et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2016
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