Amyotrophic Lateral Sclerosis
What's New
Last Posted: Jan 24, 2023
- Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
Megat Salim et al. Nature communications 2023 1 (1) 342 - Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome.
Dulski JarosLaw et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2023 1-4 - The Nuclear Envelope in Ageing and Progeria.
Fragoso-Luna Adrián et al. Sub-cellular biochemistry 2023 10253-75 - Calculating variant penetrance from family history of disease and average family size in population-scale data.
Spargo Thomas P et al. Genome medicine 2022 14(1) 141 - A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning.
De Oliveira Hugo M et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2022 1-9 - Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.
Sung Wonjae et al. Brain communications 2022 4(6) fcac299 - Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022 - The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.
Mehta Puja R et al. Brain : a journal of neurology 2022 - ALS therapy hits molecular mark but misses clinical one
K O'Leary, Nature Medicine, October 3, 2022 - Biomarker data prove critical for ALS drug evaluation at FDA.
Carvalho Thiago et al. Nature medicine 2022 9
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About Rare Diseases PHGKB
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
Content Summary
- CDC Information (14)
- NIH Information (14)
- COVID-19 (12)
- CDC Publications (8)
- Human Genome Epidemiologic Studies (734)
- GWAS Studies (29)
- Human Genomics Translation/Implementation Studies (81)
- Genomic Tests Evidence Synthesis (5)
- Genomic Tests Guidelines (1)
- Non-Genomics Precision Health (14)
- Reviews/Commentaries (69)
- Tools/Methods (2)
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 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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Feb 06, 2023
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