Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction
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| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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KeAi Communications Co., Ltd.
2025-09-01
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| Series: | Genes and Diseases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S235230422500011X |
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| author | Gonzalo P. Solis Federica Rachele Danti Yonika A. Larasati Federica Graziola Carolina Croci Elisa Osanni Alexey Koval Giovanna Zorzi Vladimir L. Katanaev |
| author_facet | Gonzalo P. Solis Federica Rachele Danti Yonika A. Larasati Federica Graziola Carolina Croci Elisa Osanni Alexey Koval Giovanna Zorzi Vladimir L. Katanaev |
| author_sort | Gonzalo P. Solis |
| collection | DOAJ |
| format | Article |
| id | doaj-art-cfbee1e44ddf42b68f37d7a26c1395ee |
| institution | Kabale University |
| issn | 2352-3042 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | KeAi Communications Co., Ltd. |
| record_format | Article |
| series | Genes and Diseases |
| spelling | doaj-art-cfbee1e44ddf42b68f37d7a26c1395ee2025-08-20T03:29:15ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422025-09-0112510152210.1016/j.gendis.2025.101522Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunctionGonzalo P. Solis0Federica Rachele Danti1Yonika A. Larasati2Federica Graziola3Carolina Croci4Elisa Osanni5Alexey Koval6Giovanna Zorzi7Vladimir L. Katanaev8Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, SwitzerlandChild Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, ItalyTranslational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, SwitzerlandChild Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, ItalyChild Neuropsychiatry and Child and Adolescent Psychology, Department of Mental Health and Pathological Addiction, AUSL Piacenza, Piacenza 29121, ItalyScientific Institute, IRCCS E. Medea, Epilepsy and Clinical Neurophysiology Unit, Conegliano, Treviso 31015, ItalyTranslational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, SwitzerlandChild Neuropsychiatry Unit, Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano 20133, Italy; Corresponding author.Translational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, Geneva 1211, Switzerland; Corresponding author.http://www.sciencedirect.com/science/article/pii/S235230422500011X |
| spellingShingle | Gonzalo P. Solis Federica Rachele Danti Yonika A. Larasati Federica Graziola Carolina Croci Elisa Osanni Alexey Koval Giovanna Zorzi Vladimir L. Katanaev Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction Genes and Diseases |
| title | Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction |
| title_full | Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction |
| title_fullStr | Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction |
| title_full_unstemmed | Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction |
| title_short | Clinical-molecular profiling of atypical GNAO1 patients: Novel pathogenic variants, unusual manifestations, and severe molecular dysfunction |
| title_sort | clinical molecular profiling of atypical gnao1 patients novel pathogenic variants unusual manifestations and severe molecular dysfunction |
| url | http://www.sciencedirect.com/science/article/pii/S235230422500011X |
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