Last Posted: Jul 16, 2020
- 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
- Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu Xiaoxuan et al. European journal of neurology 2020 Apr
- Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska Ewelina et al. Neurogenetics 2019 Feb
- Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.
Bellofatto Marta et al. Frontiers in neurology 2019 103
- Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore Angelica et al. Frontiers in neurology 2018 9981
- Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
Lu Cong et al. Journal of molecular medicine (Berlin, Germany) 2018 Jul 96(7) 701-712
- How are genetic test results being used by Australian life insurers?
Barlow-Stewart K et al. European journal of human genetics : EJHG 2018 Jun
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.