Associated Papers
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Turner J et al.
Muscle & Nerve, 2024
Genotype-phenotype association and functional analysis of hnRNPA1 mutations in amyotrophic lateral sclerosis.
Zhang X et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp002.pdf
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer D et al.
Jci Insight, 2021
A Comprehensive Analysis of the Role of hnRNP A1 Function and Dysfunction in the Pathogenesis of Neurodegenerative Disease.
Clarke JP et al.
Frontiers in Molecular Biosciences, 2021
Molecular epidemiological study of familial amyotrophic lateral sclerosis in Japanese population by whole-exome sequencing and identification of novel HNRNPA1 mutation.
Naruse H et al.
Neurobiology of Aging, 2018
Genetic mutations in RNA-binding proteins and their roles in ALS.
Kapeli K et al.
Human Genetics, 2017
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