In 2013, Fuchs identified GNAL as a novel causative dystonia gene in 28 patients from 8 families [ [1] ]. The correlation between genotype, phenotype, and response to treatments of GNAL-related dystonia (DYT-GNAL) is still undetermined due to the limited number of individuals currently described

A novel GNAL pathogenic variant leading to generalized dystonia: Immediate and sustained response to globus pallidus internus deep brain stimulation

Colucci, Fabiana;Eleopra, Roberto
2023

Abstract

In 2013, Fuchs identified GNAL as a novel causative dystonia gene in 28 patients from 8 families [ [1] ]. The correlation between genotype, phenotype, and response to treatments of GNAL-related dystonia (DYT-GNAL) is still undetermined due to the limited number of individuals currently described
2023
Romito, Luigi Michele; Paio, Fabio; Andreasi, Nico Golfrè; Panteghini, Celeste; Rinaldo, Sara; Kaymak, Ahmet; Mazzoni, Alberto; Colucci, Fabiana; Levi, Vincenzo; Messina, Giuseppe; Garavaglia, Barbara; Eleopra, Roberto
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/2530810
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