Associated Papers
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Quazza F et al.
Parkinsonism & Related Disorders, 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
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Scoping Review on ADCY5-Related Movement Disorders.
Menon PJ et al.
Movement Disorders Clinical Practice, 2023
Isoform Specific Regulation of Adenylyl Cyclase 5 by Gβγ.
Yen YC et al.
Biorxiv : the Preprint Server for Biology, 2023
Genetic Links to Episodic Movement Disorders: Current Insights.
Garg D et al.
The Application of Clinical Genetics, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
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
ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.
Vijiaratnam N et al.
Movement Disorders Clinical Practice, 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
Emerging Monogenic Complex Hyperkinetic Disorders.
Carecchio M et al.
Current Neurology and Neuroscience Reports, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.
Barrett MJ et al.
Neurology. Genetics, 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
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
Recent advances in genetics of chorea.
Mencacci NE et al.
Current Opinion in Neurology, 2016
Treatment of ADCY5-Associated Dystonia, Chorea, and Hyperkinetic Disorders With Deep Brain Stimulation: A Multicenter Case Series.
Dy ME et al.
Journal of Child Neurology, 2016
Phenotypic insights into ADCY5-associated disease.
Chang FC 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
ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE et al.
Neurology, 2015
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Carapito R et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2015
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ et al.
Annals of Neurology, 2014
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.
Chen YZ et al.
Archives of Neurology, 2012
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