A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities-Reference-Cited by-同舟云学术

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A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities

Published:2021-07-31 Issue:7 Volume:8 Page:1140-1143
ISSN:2330-1619
Container-title:Movement Disorders Clinical Practice
language:en
Short-container-title:Mov Disord Clin Pract

Author:

Kaiyrzhanov Rauan¹,Zaki Maha S.²,Maroofian Reza¹,Dominik Natalia¹,Rad Aboulfazl³,Vona Barbara³,Houlden Henry¹

Affiliation:

1. Department of Neuromuscular Disorders University College London, Institute of Neurology London United Kingdom

2. Human Genetics and Genome Research Division, Clinical Genetics Department National Research Centre Cairo Egypt

3. Department of Otolaryngology—Head & Neck Surgery Tübingen Hearing Research Centre, Eberhard Karls University Tübingen Tübingen Germany

Funder

Medical Research Council

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mdc3.13310

Reference8 articles.

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

2. Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders

3. Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus

4. Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

5. Biallelic variants in KIF14 cause intellectual disability with microcephaly

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1. Identification and characterization of biomarkers associated with endoplasmic reticulum protein processing in cerebral ischemia-reperfusion injury;PeerJ;2024-01-02

2. Expanding Knowledge of the Causes of Childhood Chorea;Seminars in Pediatric Neurology;2023-10

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

4. Chorea: An Update on Genetics;European Neurology;2022

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