Associated Papers
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
Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.
Yen YC et al.
Nature Structural & Molecular Biology, 2024
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Ferrini A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].
Aguilera-Nieto L et al.
Revista De Neurologia, 2020
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Carecchio M et al.
Parkinsonism & Related Disorders, 2017
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
Zech M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Douglas AG et al.
Neurogenetics, 2017
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