Associated Papers
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome.
Boesch S et al.
Journal of Medical Genetics, 2025
Genome sequencing reanalysis increases the diagnostic yield in dystonia.
Fellner A et al.
Parkinsonism & Related Disorders, 2024
Mutation screening of AOPEP variants in a large dystonia cohort.
Lin J et al.
Journal of Neurology, 2023
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Transcriptome level analysis in Rett syndrome using human samples from different tissues.
Shovlin S et al.
Orphanet Journal of Rare Diseases, 2018
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