Early-onset Generalized Dystonia
What's New
Last Posted: Mar 02, 2023
- Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
Olschewski Luisa, et al. Parkinsonism & related disorders 2019 0 196-200 - Identification of a novel de novo KMT2B variant in a Greek dystonia patient via exome sequencing genotype-phenotype correlations of all published cases.
Marogianni Chrysoula, et al. Molecular biology reports 2020 0 (1) 371-379 - Association analysis of TOR1A polymorphisms rs2296793 and rs3842225 in a Chinese population with cervical dystonia.
Zhou Qingqing, et al. Neuroscience letters 2015 12 185-188 - TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.
Timerbaeva Sofia L, et al. The International journal of neuroscience 2015 9 (9) 671-7 - Early-onset generalized dystonia
From NCATS Genetic and Rare Diseases Information Center - High-throughput mutational analysis of TOR1A in primary dystonia.
Xiao Jianfeng, et al. BMC medical genetics 2009 0 (1) 24
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
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