Associated Papers
Semantic behavioral variant frontotemporal dementia and semantic dementia associated with TARDBP mutations.
Piga G et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.
Balendra R et al.
The Lancet. Neurology, 2025
Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.
Xing Y et al.
Orphanet Journal of Rare Diseases, 2025
40188109 (PubMed )
Supplement: 13023_2025_3696_MOESM2_ESM.xlsx › Sheet1
Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review.
Lombardi M et al.
Genes, 2023
38002982 (PubMed )
Supplement: genes-14-02039-s001.zip › genes-2688630-supplementary › genes-2688630.xlsx › 267_paz
Identifying the molecular drivers of ALS-implicated missense mutations.
Portelli S et al.
Journal of Medical Genetics, 2023
Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism.
Chen S et al.
Neurobiology of Aging, 2021
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