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Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder.

作者信息

Romito Luigi M, Colucci Fabiana, Leta Valentina, Panteghini Celeste, Telese Roberta, Tolva Gianluca, Villa Roberta, Elia Antonio E, Eleopra Roberto, Peron Angela, Garavaglia Barbara, Iascone Maria

机构信息

Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.

出版信息

Mov Disord Clin Pract. 2025 Feb;12(2):239-241. doi: 10.1002/mdc3.14246. Epub 2024 Oct 24.

Abstract
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