Associated Papers
Prevalence estimation of a rare disease with the French National Rare Disease Registry: example of TNF receptor associated periodic syndrome (TRAPS).
Subervie A et al.
Orphanet Journal of Rare Diseases, 2025
Unmasking Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS): Diagnostic pitfalls of de novo mutations.
Zhu YY et al.
The Journal of Allergy and Clinical Immunology. in Practice, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
The First Case of a Korean Patient with a Mutation-Confirmed Tumor Necrosis Factor Receptor-Associated Periodic Syndrome.
Lee SJ et al.
Yonsei Medical Journal, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
Delaleu J et al.
Rheumatology (oxford, England), 2021
Renal AA Amyloidosis as Rare Presentation of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome in Pediatric Patient.
Cody E et al.
Kidney International Reports, 2021
Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.
Cudrici C et al.
International Journal of Molecular Sciences, 2020
Functional analysis of a novel G87V TNFRSF1A mutation in patients with TNF receptor-associated periodic syndrome.
Tsuji S et al.
Clinical and Experimental Immunology, 2019
Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.
Martorana D et al.
Frontiers in Immunology, 2017
A 2-year-old Japanese girl with TNF receptor-associated periodic syndrome: A case report of the youngest diagnosed proband in Japan.
Yasumura J et al.
Modern Rheumatology, 2016
The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.
Lachmann HJ et al.
Annals of the Rheumatic Diseases, 2014
Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in Japan: a review of the literature.
Washio M et al.
Modern Rheumatology, 2013
Hereditary autoinflammatory syndromes: a Brazilian multicenter study.
Jesus AA et al.
Journal of Clinical Immunology, 2012
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