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
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated
Novel GNAL mutation with intra-familial clinical heterogeneity: Expanding the phenotype.
Carecchio M et al.
Parkinsonism & Related Disorders, 2016
Screening of mutations in GNAL in sporadic dystonia patients.
Dufke C et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
Recent advances in the genetics of dystonia.
Xiao J et al.
Current Neurology and Neuroscience Reports, 2014
Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.
Vemula SR et al.
Human Molecular Genetics, 2013
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