Associated Papers
ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
Innocenti A et al.
Movement Disorders Clinical Practice, 2025
Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.
Yen YC et al.
Nature Structural & Molecular Biology, 2024
Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.
Yen YC et al.
Biorxiv : the Preprint Server for Biology, 2023
Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.
Okamoto N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia.
Chen DH et al.
Movement Disorders Clinical Practice, 2020
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.
Kumar KR et al.
Parkinsonism & Related Disorders, 2019
Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia.
Doyle TB et al.
Biochemical Pharmacology, 2019
Role of the nucleotidyl cyclase helical domain in catalytically active dimer formation.
Vercellino I et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients.
Carecchio M et al.
Parkinsonism & Related Disorders, 2017
ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.
Douglas AG et al.
Neurogenetics, 2017
ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.
Raskind WH et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.
Chen DH et al.
Neurology, 2015
Huntington's Disease, Huntington's Disease Look-Alikes, and Benign Hereditary Chorea: What's New?
Schneider SA et al.
Movement Disorders Clinical Practice, 0
ADCY5-Related Dyskinesia: A Genetic Cause of Early-Onset Chorea-Report of Two Cases and a Novel Mutation.
Padmanabha H et al.
Annals of Indian Academy of Neurology, 0