Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

Gonzalo P. Solis; Federica Rachele Danti; Yonika A. Larasati; Federica Graziola; Carolina Croci; Elisa Osanni; Alexey Koval; Giovanna Zorzi; Vladimir L. Katanaev

doi:10.1016/j.gendis.2025.101522

Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

Gonzalo P. Solis
, Federica Rachele Danti
, Yonika A. Larasati
, Federica Graziola
, Carolina Croci
, Elisa Osanni
, Alexey Koval
, Giovanna Zorzi^*
, Vladimir L. Katanaev^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Original language	English
Article number	101522
Journal	Genes and Diseases
Volume	12
Issue number	5
DOIs	https://doi.org/10.1016/j.gendis.2025.101522
Publication status	Published - Sept 2025
Externally published	Yes

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10.1016/j.gendis.2025.101522

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@article{11523bdee60149c69b665521a3663de2,

title = "Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction",

author = "Solis, \{Gonzalo P.\} and Danti, \{Federica Rachele\} and Larasati, \{Yonika A.\} and Federica Graziola and Carolina Croci and Elisa Osanni and Alexey Koval and Giovanna Zorzi and Katanaev, \{Vladimir L.\}",

year = "2025",

month = sep,

doi = "10.1016/j.gendis.2025.101522",

language = "English",

volume = "12",

journal = "Genes and Diseases",

issn = "2352-4820",

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T1 - Clinical-molecular profiling of atypical GNAO1 patients

T2 - Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

AU - Solis, Gonzalo P.

AU - Danti, Federica Rachele

AU - Larasati, Yonika A.

AU - Graziola, Federica

AU - Croci, Carolina

AU - Osanni, Elisa

AU - Koval, Alexey

AU - Zorzi, Giovanna

AU - Katanaev, Vladimir L.

PY - 2025/9

Y1 - 2025/9

UR - https://www.scopus.com/pages/publications/105004013444

U2 - 10.1016/j.gendis.2025.101522

DO - 10.1016/j.gendis.2025.101522

M3 - Article

AN - SCOPUS:105004013444

SN - 2352-4820

VL - 12

JO - Genes and Diseases

JF - Genes and Diseases

IS - 5

M1 - 101522

ER -

Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction

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