Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.P36R
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ANXA11

NM_145868.2:p.P36R

Associated Papers

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

Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment.

Liu Q et al.

Acta Neuropathologica Communications, 2025

Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study.

Shen D et al.

Journal of Neurology, 2024

Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.

Nan H et al.

Alzheimer's Research & Therapy, 2024

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

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

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

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.

Nahm M et al.

Science Translational Medicine, 2020

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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."