Associated Papers
Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.
Yuan R et al.
Iscience, 2026
Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related Disorder.
Thiel M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
Deep brain stimulation in patients with mixed movement disorders linked to ADCY5.
Retailleau E et al.
Revue Neurologique, 2025
Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce.
Labory J et al.
Briefings in Bioinformatics, 2025
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
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 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
Atypical ADCY5-related movement disorders: Highlighting adolescent/adult-onset cervical dystonia.
Quazza F et al.
Parkinsonism & Related Disorders, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
ADCY5-related dyskinesia - case series with literature review.
Kozon K et al.
Neurologia I Neurochirurgia Polska, 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
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases.
Garofalo M et al.
Neuropediatrics, 2023
Deep brain stimulation effect in genetic dyskinetic cerebral palsy: The case of ADCY5- related disease.
Cif L et al.
Molecular Genetics and Metabolism, 2023
ADCY5 gene mutation: a case report.
Tezen D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
ADCY5-related dyskinesia: a case report.
Chen SY et al.
Neurological Research and Practice, 2022
Teaching Video NeuroImage: Paroxysmal Nocturnal Dyskinesias: A Characteristic Feature of ADCY5 Mutation.
Pringsheim TM et al.
Neurology, 2021
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
Deep brain stimulation reduces (nocturnal) dyskinetic exacerbations in patients with ADCY5 mutation: a case series.
de Almeida Marcelino AL et al.
Journal of Neurology, 2020
Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment.
Shetty K et al.
Journal of Movement Disorders, 2020
[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
Insights From Genetic Studies of Cerebral Palsy.
Lewis SA et al.
Frontiers in Neurology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation.
Kawarai T et al.
Journal of the Neurological Sciences, 2019
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
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Ewans LJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
PDE10A and ADCY5 mutations linked to molecular and microstructural basal ganglia pathology.
Niccolini F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
Abela L et al.
Journal of Inherited Metabolic Disease, 2018
The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Reale C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Expanding the ADCY5 phenotype toward spastic paraparesis: A mutation in the M2 domain.
Waalkens AJE et al.
Neurology. Genetics, 2018
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M et al.
Neurogenetics, 2017
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