Associated Papers
ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.
Innocenti A et al.
Movement Disorders Clinical Practice, 2025
Sex differences in the developing human cortex intersect with genetic risk of neurodevelopmental disorders.
Hennick K et al.
Biorxiv : the Preprint Server for Biology, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study.
Taenzler D et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Generation of an induced pluripotent stem cell line (UCLi026-A) from a patient with ADCY5-related disease carrying the heterozygous variant c.1253G > A; (p. Arg418Gln).
Alhaque S et al.
Stem Cell Research, 2025
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Quazza F et al.
Parkinsonism & Related Disorders, 2025
Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.
Smal N et al.
European Journal of Human Genetics : Ejhg, 2024
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
Structure of adenylyl cyclase 5 in complex with Gβγ offers insights into ADCY5-related dyskinesia.
Yen YC et al.
Nature Structural & Molecular Biology, 2024
ADCY5-related dyskinesia - case series with literature review.
Kozon K et al.
Neurologia I Neurochirurgia Polska, 2024
Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.
Yen YC et al.
Biorxiv : the Preprint Server for Biology, 2023
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I.
Pontrucher A et al.
Frontiers in Neurology, 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
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
Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia.
Chen DH et al.
Movement Disorders Clinical Practice, 2020
Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia.
Doyle TB et al.
Biochemical Pharmacology, 2019
Adult-Onset Myoclonus-Dystonia Syndrome Preceding Characteristic Facial Myoclonus in Indian ADCY5-related Dyskinesia.
Agarwal PA et al.
Movement Disorders Clinical Practice, 2019
Depression and psychosis in ADCY5-related dyskinesia-part of the phenotypic spectrum?
Vijiaratnam N et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Multiple Causes of Pediatric Early Onset Chorea-Clinical and Genetic Approach.
Blumkin L et al.
Neuropediatrics, 2018
Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain.
Waalkens AJE et al.
Neurology. Genetics, 2018
Emerging Monogenic Complex Hyperkinetic Disorders.
Carecchio M et al.
Current Neurology and Neuroscience Reports, 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
Reply letter to "ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity".
Fung VS et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2017
Alternating Hemiplegia of Childhood as a New Presentation of Adenylate Cyclase 5-Mutation-Associated Disease: A Report of Two Cases.
Westenberger A et al.
The Journal of Pediatrics, 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
Phenotypic insights into ADCY5-associated disease.
Chang FC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
Friedman JR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
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
ADCY5 Mutation-Movement Disorder with Sleep Disruption Improving with Caffeine.
Desai NA et al.
Neurology India, 0