Varaico: Literature-Extracted Genetic Variants

Gene:ADCY5
Variant:p.M696_G697Splc
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ADCY5

NM_183357.3:p.M696_G697Splc

Associated Papers

Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.

Yuan R et al.

Iscience, 2026

Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.

Nair BS et al.

Cureus, 2026

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

Innocenti A et al.

Movement Disorders Clinical Practice, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

ADCY5 Related Dyskinesia-A Rare Mutation.

Mahesh B et al.

Movement Disorders Clinical Practice, 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

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

Caffeine and the Dyskinesia Related to Mutations in the ADCY5 Gene.

Méneret A et al.

Annals of Internal Medicine, 2019

ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder.

Vijiaratnam N et al.

Movement Disorders Clinical Practice, 2019

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

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

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

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Schneider SA et al.

Movement Disorders Clinical Practice, 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."