Juvenile Amyotrophic Lateral Sclerosis
What's New
Last Posted: Apr 02, 2023
- Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
Li Chunyu, et al. Human genomics 2023 0 (1) 28 - A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis.
Ma Limin, et al. Brain and behavior 2018 0 (9) e01066 - FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.
Goldstein Orly, et al. Neurology. Genetics 2022 0 (4) e200009 - The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.
Liu Z-J, et al. Clinical genetics 2017 3 - ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani Celeste, et al. Brain : a journal of neurology 2015 11 - Association of genetic variants in senataxin and Alzheimer's disease in a Chinese Han population in Taiwan.
Shen Che-Piao, et al. The Chinese journal of physiology 2014 4 (2) 83-9 - De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.
Zou Zhang-Yu, et al. Neurobiology of aging 2013 4 (4) 1312.e1-8 - Juvenile amyotrophic lateral sclerosis
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
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 Public Health Genomics Branch 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, 2024
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