Literature DB >> 19794511

Multiple sclerosis. TNFRSF1A, TRAPS and multiple sclerosis.

Tania Kümpfel1, Reinhard Hohlfeld.   

Abstract

A genome-wide association study has identified the R92Q variant of the TNFRSF1A gene as a new susceptibility locus for multiple sclerosis. This locus is of special interest because the R92Q substitution was previously detected in a group of multiple sclerosis patients who had additional symptoms compatible with the autoinflammatory syndrome TRAPS.

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Year:  2009        PMID: 19794511     DOI: 10.1038/nrneurol.2009.154

Source DB:  PubMed          Journal:  Nat Rev Neurol        ISSN: 1759-4758            Impact factor:   42.937


  8 in total

Review 1.  Understanding pathogenesis and therapy of multiple sclerosis via animal models: 70 years of merits and culprits in experimental autoimmune encephalomyelitis research.

Authors:  Ralf Gold; Christopher Linington; Hans Lassmann
Journal:  Brain       Date:  2006-04-21       Impact factor: 13.501

2.  Multiple sclerosis: prospective analysis of TNF-alpha and 55 kDa TNF receptor in CSF and serum in correlation with clinical and MRI activity.

Authors:  S Spuler; T Yousry; A Scheller; R Voltz; E Holler; M Hartmann; M Wick; R Hohlfeld
Journal:  J Neuroimmunol       Date:  1996-05       Impact factor: 3.478

3.  Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation.

Authors:  Tania Kümpfel; Lisa-Ann Hoffmann; Heike Rübsamen; Walter Pöllmann; Wolfgang Feneberg; Reinhard Hohlfeld; Peter Lohse
Journal:  Arthritis Rheum       Date:  2007-08

Review 4.  The genetics of multiple sclerosis: SNPs to pathways to pathogenesis.

Authors:  Jorge R Oksenberg; Sergio E Baranzini; Stephen Sawcer; Stephen L Hauser
Journal:  Nat Rev Genet       Date:  2008-06-10       Impact factor: 53.242

5.  Multiple sclerosis and the TNFRSF1A R92Q mutation: clinical characteristics of 21 cases.

Authors:  T Kümpfel; L-A Hoffmann; H Pellkofer; W Pöllmann; W Feneberg; R Hohlfeld; P Lohse
Journal:  Neurology       Date:  2008-11-25       Impact factor: 9.910

6.  Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

Authors:  Philip L De Jager; Xiaoming Jia; Joanne Wang; Paul I W de Bakker; Linda Ottoboni; Neelum T Aggarwal; Laura Piccio; Soumya Raychaudhuri; Dong Tran; Cristin Aubin; Rebeccah Briskin; Susan Romano; Sergio E Baranzini; Jacob L McCauley; Margaret A Pericak-Vance; Jonathan L Haines; Rachel A Gibson; Yvonne Naeglin; Bernard Uitdehaag; Paul M Matthews; Ludwig Kappos; Chris Polman; Wendy L McArdle; David P Strachan; Denis Evans; Anne H Cross; Mark J Daly; Alastair Compston; Stephen J Sawcer; Howard L Weiner; Stephen L Hauser; David A Hafler; Jorge R Oksenberg
Journal:  Nat Genet       Date:  2009-06-14       Impact factor: 38.330

Review 7.  Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).

Authors:  Seth L Masters; Anna Simon; Ivona Aksentijevich; Daniel L Kastner
Journal:  Annu Rev Immunol       Date:  2009       Impact factor: 28.527

8.  Pathway and network-based analysis of genome-wide association studies in multiple sclerosis.

Authors:  Sergio E Baranzini; Nicholas W Galwey; Joanne Wang; Pouya Khankhanian; Raija Lindberg; Daniel Pelletier; Wen Wu; Bernard M J Uitdehaag; Ludwig Kappos; Chris H Polman; Paul M Matthews; Stephen L Hauser; Rachel A Gibson; Jorge R Oksenberg; Michael R Barnes
Journal:  Hum Mol Genet       Date:  2009-03-13       Impact factor: 6.150

  8 in total
  4 in total

1.  [Multiple sclerosis: updates on pathogenesis and treatment: report from the 9th MS Symposium held by the German Multiple Sclerosis Society].

Authors:  R Hohlfeld; K V Toyka
Journal:  Nervenarzt       Date:  2011-08       Impact factor: 1.214

2.  Clinical and psychological phenomenology of pain in autoinflammatory diseases.

Authors:  Elisabeth Mulazzani; Nicole Zolyniak; Elisabeth Noe; Matthias Mulazzani; Shahnaz Christina Azad; Tania Kümpfel; Eduard Kraft
Journal:  BMC Rheumatol       Date:  2020-12-18

3.  The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.

Authors:  H J Lachmann; R Papa; K Gerhold; L Obici; I Touitou; L Cantarini; J Frenkel; J Anton; I Kone-Paut; M Cattalini; B Bader-Meunier; A Insalaco; V Hentgen; R Merino; C Modesto; N Toplak; R Berendes; S Ozen; R Cimaz; A Jansson; P A Brogan; P N Hawkins; N Ruperto; A Martini; P Woo; M Gattorno
Journal:  Ann Rheum Dis       Date:  2013-08-21       Impact factor: 19.103

Review 4.  The immunogenetics of primary biliary cirrhosis: A comprehensive review.

Authors:  G J Webb; K A Siminovitch; G M Hirschfield
Journal:  J Autoimmun       Date:  2015-08-03       Impact factor: 7.094

  4 in total

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