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Journal Abstract Search

431 related items for PubMed ID: 19029521

  • 1. Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.
    Kümpfel T, Hoffmann LA, Pellkofer H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P.
    Neurology; 2008 Nov 25; 71(22):1812-20. PubMed ID: 19029521
    [Abstract] [Full Text] [Related]

  • 2. Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.
    Kümpfel T, Hoffmann LA, Rübsamen H, Pöllmann W, Feneberg W, Hohlfeld R, Lohse P.
    Arthritis Rheum; 2007 Aug 25; 56(8):2774-83. PubMed ID: 17665448
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  • 4. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa.
    Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kéry A, Shin YS, Haas D, Hoffmann GF, Belohradsky BH.
    Arthritis Rheum; 2004 Jun 25; 50(6):1951-8. PubMed ID: 15188372
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  • 5. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus.
    Ida H, Kawasaki E, Miyashita T, Tanaka F, Kamachi M, Izumi Y, Huang M, Tamai M, Origuchi T, Kawakami A, Migita K, Motomura M, Yoshimura T, Eguchi K.
    Rheumatology (Oxford); 2004 Oct 25; 43(10):1292-9. PubMed ID: 15280569
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  • 6. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
    Aganna E, Hammond L, Hawkins PN, Aldea A, McKee SA, van Amstel HK, Mischung C, Kusuhara K, Saulsbury FT, Lachmann HJ, Bybee A, McDermott EM, La Regina M, Arostegui JI, Campistol JM, Worthington S, High KP, Molloy MG, Baker N, Bidwell JL, Castañer JL, Whiteford ML, Janssens-Korpola PL, Manna R, Powell RJ, Woo P, Solis P, Minden K, Frenkel J, Yagüe J, Mirakian RM, Hitman GA, McDermott MF.
    Arthritis Rheum; 2003 Sep 25; 48(9):2632-44. PubMed ID: 13130484
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  • 8. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation.
    Hoffmann F, Lohse P, Stojanov S, Shin YS, Renner ED, Kéry A, Zellerer S, Belohradsky BH.
    Eur J Hum Genet; 2005 Apr 25; 13(4):510-2. PubMed ID: 15657603
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  • 9. TNFRSF1A coding variants in multiple sclerosis.
    Goris A, Fockaert N, Cosemans L, Clysters K, Nagels G, Boonen S, Thijs V, Robberecht W, Dubois B.
    J Neuroimmunol; 2011 Jun 25; 235(1-2):110-2. PubMed ID: 21565411
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  • 10. "Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis.
    Kallinich T, Haffner D, Rudolph B, Schindler R, Canaan-Kühl S, Keitzer R, Burmester GR, Roesen-Wolff A, Roesler J.
    Ann Rheum Dis; 2006 Jul 25; 65(7):958-60. PubMed ID: 16308343
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  • 11. Novel markers of inflammation identified in tumor necrosis factor receptor-associated periodic syndrome (TRAPS) by transcriptomic analysis of effects of TRAPS-associated tumor necrosis factor receptor type I mutations in an endothelial cell line.
    Rebelo SL, Amel-Kashipaz MR, Radford PM, Bainbridge SE, Fiets R, Fang J, McDermott EM, Powell RJ, Todd I, Tighe PJ.
    Arthritis Rheum; 2009 Jan 25; 60(1):269-80. PubMed ID: 19116900
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  • 13. Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics.
    Lainka E, Neudorf U, Lohse P, Timmann C, Stojanov S, Huss K, von Kries R, Niehues T.
    Rheumatology (Oxford); 2009 Aug 25; 48(8):987-91. PubMed ID: 19541728
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  • 14. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.
    Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, Lecron JC, Reinert P, Cattan D, Piette JC, Szajnert MF, Delpech M, Grateau G, French Heraditary Recurrent Inflammatory Disorder Study Group.
    Arthritis Rheum; 2002 Aug 25; 46(8):2181-8. PubMed ID: 12209523
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  • 15. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function.
    Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I, Tighe PJ.
    Arthritis Rheum; 2006 Aug 25; 54(8):2674-87. PubMed ID: 16871532
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  • 16. Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: pathogenetic and clinical implications.
    D'Osualdo A, Ferlito F, Prigione I, Obici L, Meini A, Zulian F, Pontillo A, Corona F, Barcellona R, Di Duca M, Santamaria G, Traverso F, Picco P, Baldi M, Plebani A, Ravazzolo R, Ceccherini I, Martini A, Gattorno M.
    Arthritis Rheum; 2006 Mar 25; 54(3):998-1008. PubMed ID: 16508982
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  • 17. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
    Aganna E, Zeharia A, Hitman GA, Basel-Vanagaite L, Allotey RA, Booth DR, Hawkins PN, Thacker C, Syndercombe-Court D, McDermott MF.
    Arthritis Rheum; 2002 Jan 25; 46(1):245-9. PubMed ID: 11817598
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  • 18. Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants.
    Mulazzani E, Wagner D, Havla J, Schlüter M, Meinl I, Gerdes LA, Kümpfel T.
    J Neuroinflammation; 2020 Jun 20; 17(1):196. PubMed ID: 32563262
    [Abstract] [Full Text] [Related]

  • 19. Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.
    Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, Langevitz P, Livneh A, Pras E.
    Arthritis Care Res (Hoboken); 2010 Sep 20; 62(9):1294-8. PubMed ID: 20506103
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  • 20. Proinflammatory action of the antiinflammatory drug infliximab in tumor necrosis factor receptor-associated periodic syndrome.
    Nedjai B, Hitman GA, Quillinan N, Coughlan RJ, Church L, McDermott MF, Turner MD.
    Arthritis Rheum; 2009 Feb 20; 60(2):619-25. PubMed ID: 19180495
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