Associated Papers
DYT-AOPEP: A case series from India expanding the clinical and genetic spectrum.
Dutta D et al.
Parkinsonism & Related Disorders, 2026
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf
AOPEP-related autosomal recessive dystonia: update on Zech-Boesch syndrome.
Boesch S et al.
Journal of Medical Genetics, 2025
Mutation screening of AOPEP variants in a large dystonia cohort.
Lin J et al.
Journal of Neurology, 2023
Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia.
Menden B et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
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
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