Last Posted: Nov 16, 2020
- Carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is a risk factor for ALS in the Finnish population.
Kaivola Karri, et al. Acta neuropathologica communications 2020 11 (1) 187
- Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures.
Valentino Rebecca R, et al. Acta neuropathologica communications 2020 9 (1) 162
- Primary Tau Pathology, Not Copathology, Correlates With Clinical Symptoms in PSP and CBD.
Robinson John L, et al. Journal of neuropathology and experimental neurology 2019 12
- Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.
Yokoyama Jennifer S, et al. Acta neuropathologica 2017 0 (5) 825-837
- Assessment of APOE in atypical parkinsonism syndromes.
Sabir Marya S, et al. Neurobiology of disease 2019 2
- Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum.
Karch Celeste M, et al. JAMA neurology 2018 7 (7) 860-875
- Target-enriched sequencing of chromosome 17q21.31 in sporadic tauopathies reveals no candidate variants.
Razquin Cristina, et al. Neurobiology of aging 2018 0 177.e7-177.e10
- Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype.
Koga Shunsuke, et al. Acta neuropathologica 2018 6
- Meta-analysis of the association between variants in MAPT and neurodegenerative diseases.
Zhang Cheng-Cheng, et al. Oncotarget 2017 3
- Genome-wide association study identifies MAPT locus influencing human plasma tau levels.
Chen Jason, et al. Neurology 2017 1
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.