Associated Papers
Astrocytes expressing mutant hnRNPA1 induce non-cell-autonomous motor neuron death.
Wu Q et al.
Brain Research Bulletin, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
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
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
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
Roos A et al.
Journal of Neuromuscular Diseases, 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
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
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
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene.
Hackman P et al.
Neurology. Genetics, 2021
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer D et al.
Jci Insight, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 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
Rare Inherited forms of Paget's Disease and Related Syndromes.
Ralston SH et al.
Calcified Tissue International, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
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
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ et al.
Nature, 2013