Associated Papers
Investigation of a Large Kindred Reveals Cardiac Calsequestrin (CASQ2) as a Cause of Brugada Syndrome.
d'Apolito M et al.
Genes, 2024
39062601 (PubMed )
Supplement: genes-15-00822-s001.zip › genes-3033278-supplementary.pdf
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A et al.
Brain : a Journal of Neurology, 2023
36757831 (PubMed )
Supplement: awad039_supplementary_data.zip › brain-2022-01664-File009.xlsx › Supplementary_File_1
Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.
Munoz MA et al.
Frontiers in Immunology, 2019
Systematic TOR1A non-c.907_909delGAG variant analysis in isolated dystonia and controls.
Zech M et al.
Parkinsonism & Related Disorders, 2016
Clinical and genetic features of cervical dystonia in a large multicenter cohort.
LeDoux MS et al.
Neurology. Genetics, 2016
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