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;
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 describedFile in questo prodotto:
| File | Dimensione | Formato | |
|---|---|---|---|
|
1-s2.0-S1353802023009124-main.pdf
solo gestori archivio
Descrizione: Full text editoriale
Tipologia:
Full text (versione editoriale)
Licenza:
NON PUBBLICO - Accesso privato/ristretto
Dimensione
2.38 MB
Formato
Adobe PDF
|
2.38 MB | Adobe PDF | Visualizza/Apri Richiedi una copia |
I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
