Associated Papers
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars
Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P et al.
European Journal of Neurology, 2021
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.
Carecchio M et al.
Parkinsonism & Related Disorders, 2016
Recent advances in the genetics of dystonia.
Xiao J et al.
Current Neurology and Neuroscience Reports, 2014
Mutations in GNAL: a novel cause of craniocervical dystonia.
Kumar KR et al.
Jama Neurology, 2014
Mutations in GNAL cause primary torsion dystonia.
Fuchs T et al.
Nature Genetics, 2013
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