Associated Papers
TRIM32-UBQLN2-p62 axis promotes TDP-43 inclusion formation and amyloid aggregation through shuttle condensates.
He Z et al.
Biorxiv : the Preprint Server for Biology, 2026
Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.
Xia X et al.
Degenerative Neurological and Neuromuscular Disease, 2026
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Exploring the phenotypic fingerprints of ANXA11 variants in ALS: a population-based study in an European cohort.
Palumbo F et al.
Journal of Neurology, 2025
Prevalence and impact of comorbidities in amyotrophic lateral sclerosis.
Jellinger KA
Journal of Neural Transmission (vienna, Austria : 1996), 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
Semantic variant primary progressive aphasia with ANXA11 p.D40G.
Lee SM et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues.
Marchica V et al.
Brain : a Journal of Neurology, 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
Implementing genomic medicine in clinical practice for adults with undiagnosed rare diseases.
Ahn JH et al.
Npj Genomic Medicine, 2024
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 2024
Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.
Feng M et al.
Nature Communications, 2024
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
Genetic and in silico analysis of Indian sporadic young onset patient with amyotrophic lateral sclerosis.
Roychowdhury S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Annexin A11 aggregation in FTLD-TDP type C and related neurodegenerative disease proteinopathies.
Robinson JL et al.
Acta Neuropathologica, 2024
Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.
Nan H et al.
Alzheimer's Research & Therapy, 2024
The structural properties of full-length annexin A11.
Dudas EF et al.
Frontiers in Molecular Biosciences, 2024
Genetic Screening of Patients with Sporadic Alzheimer's Disease and Frontotemporal Lobar Degeneration in the Chinese Population.
Li Y et al.
Journal of Alzheimer's Disease : Jad, 2024
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A et al.
Research Square, 2023
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
ALS Variants of Annexin A11's Proline-Rich Domain Impair Its S100A6-Mediated Fibril Dissolution.
Shihora A et al.
Acs Chemical Neuroscience, 2023
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 2023
Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling.
Hedges EC et al.
Genes, 2023
Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants.
Natera-de Benito D et al.
Annals of Clinical and Translational Neurology, 2023
An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review.
Zhang X et al.
Frontiers in Neurology, 2023
Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy.
Wang H et al.
Frontiers in Neuroscience, 2023
Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia.
Yang X et al.
Orphanet Journal of Rare Diseases, 2022
Semantic variant primary progressive aphasia with a pathogenic variant p.Asp40Gly in the ANXA11 gene.
Kim EJ et al.
European Journal of Neurology, 2022
Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11.
Johari M et al.
Annals of Clinical and Translational Neurology, 2022
Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.
Chen YP et al.
Journal of Medical Genetics, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Emerging Roles for Phase Separation of RNA-Binding Proteins in Cellular Pathology of ALS.
Milicevic K et al.
Frontiers in Cell and Developmental Biology, 2022
ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.
Wang Y et al.
Frontiers in Neurology, 2022
Clinical and genetic characteristics of amyotrophic lateral sclerosis patients with ANXA11 variants.
Sung W et al.
Brain Communications, 2022
A Novel Multisystem Proteinopathy Caused by a Missense ANXA11 Variant.
Leoni TB et al.
Annals of Neurology, 2021
A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features.
Sainouchi M et al.
Acta Neuropathologica Communications, 2021
Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11.
Hedges EC et al.
Stem Cell Research, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021