Last Posted: Aug 04, 2020
- Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.
Novis Luiz Eduardo et al. Arquivos de neuro-psiquiatria 2020 Jul
- Investigating PUM1 mutations in a Taiwanese cohort with cerebellar ataxia.
Lai Kuan-Lin, et al. Parkinsonism & related disorders 2019 8
- Multiple system atrophy and CAG repeat length: a genetic screening of polyglutamine disease genes in Italian patients.
Mongelli Alessia et al. Neuroscience letters 2018 Apr
- Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.
Paradisi Irene, et al. Journal of human genetics 2015 11
- Dentatorubral-pallidoluysian atrophy
From NCATS Genetic and Rare Diseases Information Center
- Spinocerebellar ataxia type 11 in the Chinese Han population.
Xu Qian, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010 2 (1) 107-9
- [Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans].
Wang Junling, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008 10 (5) 511-4
- Searching for mutation in the JPH3, ATN1 and TBP genes in Polish patients suspected of Huntington's disease and without mutation in the IT15 gene.
Su?ek-Piatkowska Anna, et al. Neurologia i neurochirurgia polska 0 0 (3) 203-9
- Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Brusco Alfredo, et al. Archives of neurology 2004 5 (5) 727-33
- Increased (CTG/CAG)(n) lengths in myotonic dystrophy type 1 and Machado-Joseph disease genes in idiopathic azoospermia patients.
Pan Huichin, et al. Human reproduction (Oxford, England) 2002 6 (6) 1578-83
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
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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.