Associated Papers
Genetic Spectrum and Phenotypic Variability in Chinese Patients with Multisystem Proteinopathy and Related Disorders.
Xia X et al.
Degenerative Neurological and Neuromuscular Disease, 2026
Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.
Ghayal NB et al.
Acta Neuropathologica, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Common Diseases in Clinical Cohorts - Not Always What They Seem.
Rahimov F et al.
The New England Journal of Medicine, 2025
Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.
Ghayal NB et al.
Biorxiv : the Preprint Server for Biology, 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
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
The structural properties of full-length annexin A11.
Dudas EF et al.
Frontiers in Molecular Biosciences, 2024
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.
Zhou Z et al.
Biorxiv : the Preprint Server for Biology, 2023
ALS Variants of Annexin A11's Proline-Rich Domain Impair Its S100A6-Mediated Fibril Dissolution.
Shihora A et al.
Acs Chemical Neuroscience, 2023
Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.
Scaber J et al.
European Journal of Neurology, 2023
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 2023
Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling.
Hedges EC et al.
Genes, 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
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
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Nel M et al.
Neurology. Genetics, 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 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
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Teyssou E et al.
Neurobiology of Aging, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.
Nahm M et al.
Science Translational Medicine, 2020
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
Theme 3 In vitro experimental models.
Yang S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2019
Two rare variants of the ANXA11 gene identified in Chinese patients with amyotrophic lateral sclerosis.
Liu X et al.
Neurobiology of Aging, 2019
ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.
Zhang K et al.
Neurology. Genetics, 2018
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Smith BN et al.
Science Translational Medicine, 2017
Unraveling the multifaceted insights into amyotrophic lateral sclerosis: Genetic underpinnings, pathogenesis, and therapeutic horizons.
Sharma R et al.
Mutation Research. Reviews in Mutation Research, 0