Juvenile Amyotrophic Lateral Sclerosis
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
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
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