Last Posted: Apr 29, 2023
- A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia.
Rui Wu, et al. Frontiers in neurology 2023 0 1105760
- Mutation screening of AOPEP variants in a large dystonia cohort.
Lin Junyu, et al. Journal of neurology 2023 0
- CACNA1B gene variants in adult-onset isolated focal dystonia.
Coco? Relu, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 0 (3) 1113-1117
- A Multi-center Genome-wide Association Study of Cervical Dystonia.
Sun Yan V, et al. Movement disorders : official journal of the Movement Disorder Society 2021 0 (12) 2795-2801
- Cognitive Performance After Facial Botulinum Toxin Treatment in a Cohort of Neurologic Patients: An Exploratory Study.
Platho-Elwischger Kirsten, et al. Archives of physical medicine and rehabilitation 2021 0 (3) 402-408
- Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients.
Timmers Elze R, et al. Clinical epigenetics 2022 0 (1) 170
- Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study.
Wadon Megan E, et al. Journal of neurology 2022 0 (12) 6436-6451
- CLINGEN Actionability Report for Dopa-Responsive Dystonia - RB1
ClinGen Actionability Working Group
- Genetic screening of THAP1 in primary dystonia patients of India.
Giri Subhajit, et al. Neuroscience letters 2017 1 31-37
- Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical Dystonia.
Zhou Qingqing, et al. Parkinson's disease 2016 0 9281790
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Brugada Syndrome
- Cerebral Palsy
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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