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
AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Garavaglia B et al.
Parkinsonism & Related Disorders, 2022
Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.
Wang Y et al.
Frontiers in Cell and Developmental Biology, 2020
33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S2.SNVs
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