ADCY5-related dyskinesia presenting as familial myoclonus-dystonia-Reference-Cited by-同舟云学术

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ADCY5-related dyskinesia presenting as familial myoclonus-dystonia

Published:2017-02-22 Issue:2 Volume:18 Page:111-117
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Douglas Andrew G. L.,Andreoletti Gaia,Talbot Kevin,Hammans Simon R.,Singh Jaspal,Whitney Andrea,Ennis Sarah,Foulds Nicola C.

Funder

University of Southampton

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-017-0510-z.pdf

Reference16 articles.

1. Chen Y-Z, Matsushita MM, Robertson P et al (2012) Autosomal dominant familial dyskinesia and facial myokymia. Arch Neurol 69:630–635

2. Chen Y-Z, Friedman JR, Chen D et al (2014) Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol 75:542–549. doi: 10.1002/ana.24119

3. Carapito R, Nicodème P, Untrau M et al (2015) A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. Mov Disord 30:423–427. doi: 10.1002/mds.26115

4. Mencacci NE, Erro R, Wiethoff S et al (2015) ADCY5 mutations are another cause of benign hereditary chorea. Neurology 85:1–9

5. Chen D, Friedman JR, Bonkowski ES et al (2015) ADCY5-related dyskinesia: broader spectrum and genotype – phenotype correlations. Neurology 85:2026–2035

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1. ADCY5-related dyskinesia — case series with literature review;Neurologia i Neurochirurgia Polska;2024-04-30

2. The expanding genetic landscape of myoclonus-dystonia syndrome: YY1 and ATP1A3 are added to the list;Parkinsonism & Related Disorders;2023-12

3. Scoping Review onADCY5‐Related Movement Disorders;Movement Disorders Clinical Practice;2023-06-06

4. Clinical Observation of Botulinum Toxin Injection in the Treatment of Focal Dystonia and Muscle Spasm;BioMed Research International;2022-09-05

5. A Clinical Approach to the Patients with Combination of Dystonia and Myoclonus;Annals of Movement Disorders;2022-05

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