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. 2023 Dec;38(12):2313-2314.
doi: 10.1002/mds.29585. Epub 2023 Aug 26.

GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum

Affiliations

GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum

Serena Galosi et al. Mov Disord. 2023 Dec.
No abstract available

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References

    1. Krenn M, Sommer R, Sycha T, Zech M. GNAO1 haploinsufficiency associated with a mild delayed-onset dystonia phenotype. Mov Disord 2022;37:2464-2466.
    1. Wirth T, Garone G, Kurian MA, et al. Highlighting the dystonic phenotype related to GNAO1. Mov Disord 2022;37:1547-1554.
    1. Muntean BS, Masuho I, Dao M, et al. Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders. Cell Rep 2021;34:108718.
    1. Wang D, Dao M, Muntean BS, et al. Genetic modeling of GNAO1 disorder delineates mechanisms of Gαo dysfunction. Hum Mol Genet 2022;31:510-522.
    1. Di Rocco M, Galosi S, Lanza E, et al. Caenorhabditis elegans provides an efficient drug screening platform for GNAO1-related disorders and highlights the potential role of caffeine in controlling dyskinesia. Hum Mol Genet 2022;31:929-941.

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