Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.R418G
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ADCY5

NM_183357.3:p.R418G

Associated Papers

ADCY5-Mosaic Variants: A Diagnosis Not to Be Missed.

Innocenti A et al.

Movement Disorders Clinical Practice, 2025

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

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

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-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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."