Associated Papers
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.
Turner J et al.
Muscle & Nerve, 2024
Nuclear pore pathology underlying multisystem proteinopathy type 3-related inclusion body myopathy.
Izumi R et al.
Annals of Clinical and Translational Neurology, 2024
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Emerging roles of spliceosome in cancer and immunity.
Yang H et al.
Protein & Cell, 2022
Bioinformatic identification of previously unrecognized amyloidogenic proteins.
Rosenberg GM et al.
The Journal of Biological Chemistry, 2022
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
Stress granule subtypes: an emerging link to neurodegeneration.
Advani VM et al.
Cellular and Molecular Life Sciences : Cmls, 2020
TDP-43 regulates the alternative splicing of hnRNP A1 to yield an aggregation-prone variant in amyotrophic lateral sclerosis.
Deshaies JE et al.
Brain : a Journal of Neurology, 2018
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
Amyotrophic Lateral Sclerosis Type 20 - In Silico Analysis and Molecular Dynamics Simulation of hnRNPA1.
Krebs BB et al.
Plos One, 2016
Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.
Izumi R et al.
Neurology. Genetics, 2015
Novel somatic single nucleotide variants within the RNA binding protein hnRNP A1 in multiple sclerosis patients.
Lee S et al.
F1000research, 2014
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ et al.
Nature, 2013
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