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
ANXA11 Variant-Associated Adult-Onset Myopathy: A Novel Phenotype.
Mahale RR et al.
Annals of Indian Academy of Neurology, 2025
Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.
Yuan L et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
The novel missense variant D40V causes a young adult presentation of ANXA11-related myopathy.
Martins AP et al.
Neuromuscular Disorders : Nmd, 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
Human TDP43 is required for ALS‑related annexin A11 toxicity in Drosophila.
Barnard J et al.
Biomedical Reports, 2024
Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.
Findlay AR
Disease Models & Mechanisms, 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
Harnessing deep learning into hidden mutations of neurological disorders for therapeutic challenges.
Yang S et al.
Archives of Pharmacal Research, 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
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
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
Genetic epidemiology of familial ALS in Brazil.
Nunes Gonçalves JP et al.
Neurobiology of Aging, 2021
Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis.
Teyssou E et al.
Neurobiology of Aging, 2021
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