Associated Papers
Expanding the genotypic and phenotypic spectrum of DYT-TSPOAP1: First report from India.
Holla VV et al.
Parkinsonism & Related Disorders, 2026
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Mencacci NE et al.
The Journal of Clinical Investigation, 2021
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.
Puusepp S et al.
Molecular Genetics and Metabolism Reports, 2018
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