Last Posted: Oct 08, 2020
- Prediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning.
Peng Linliu et al. Movement disorders : official journal of the Movement Disorder Society 2020 Sep
- Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study.
Jacobi Heike et al. The Lancet. Neurology 2020 Sep 19(9) 738-747
- Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Taghizadeh Sara et al. Archives of Iranian medicine 2020 Jul 23(7) 426-433
- Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients.
Velázquez-Pérez Luis et al. Cerebellum (London, England) 2020 Jan
- Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska Ewelina et al. Neurogenetics 2019 Feb
- Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct
- How AI technology can tame the scientific literature
A Extance, Nature News, September 10, 2018
- 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
- Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Wallace Stephanie E et al. Neurology. Clinical practice 2018 Feb 8(1) 27-32
- The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.
Olszewska Diana A et al. Irish journal of medical science 2018 Mar
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.