ArticleFrontiers in neuroscience2019
Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis.
Article in Frontiers in neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Genotype-phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature.Journal of neurology · 2022Pooled it
- Protein Structure-based FUS Mutational Subtypes Are Associated With Protein Mislocalization in Amyotrophic Lateral Sclerosis Patients.Molecular neurobiology · 2025Article
- Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges.Genes · 2024Review
- Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.Neurology. Genetics · 2023Article
- Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene.Frontiers in genetics · 2023Article
- FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALS.Molecular neurobiology · 2022Article
- CGG repeat expansion inProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.BMC medical genomics · 2022Article
- Multisystem Proteinopathy Due toGenes · 2022Review
- Genetic analysis in Chinese patients with familial or young-onset amyotrophic lateral sclerosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.Frontiers in neurology · 2022Article
- Genetic and clinical features of Chinese sporadic amyotrophic lateral sclerosis patients with TARDBP mutations.Brain and behavior · 2021Article
- Article
- FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.Brain and behavior · 2020Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. More than 25 ALS-related genes have been identified, accounting for approximately 10% of sporadic ALS (SALS) and two-thirds of familial ALS (FALS) cases. Several recent studies showed that genetic factors might have a larger contribution to young-onset ALS than to ALS cases overall. However, the genetic profile of young-onset ALS patients is not yet fully understood. Here, we investigated a cohort of 27 young-onset ALS patients (onset age < 45 years) through whole-exome sequencing (WES). Genetic analysis identified pathogenic variants of
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