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Items: 1 to 20 of 224

1.

NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment.

Kuemmerle-Deschner JB, Lohse P, Koetter I, Dannecker GE, Reess F, Ummenhofer K, Koch S, Tzaribachev N, Bialkowski A, Benseler SM.

Arthritis Res Ther. 2011;13(6):R196. doi: 10.1186/ar3526. Epub 2011 Dec 6.

2.

Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.

Kuemmerle-Deschner JB, Wittkowski H, Tyrrell PN, Koetter I, Lohse P, Ummenhofer K, Reess F, Hansmann S, Koitschev A, Deuter C, Bialkowski A, Foell D, Benseler SM.

Arthritis Res Ther. 2013;15(3):R64.

3.

Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome.

Kuemmerle-Deschner JB, Tyrrell PN, Koetter I, Wittkowski H, Bialkowski A, Tzaribachev N, Lohse P, Koitchev A, Deuter C, Foell D, Benseler SM.

Arthritis Rheum. 2011 Mar;63(3):840-9. doi: 10.1002/art.30149.

4.

A Novel Mutation in the Pyrin Domain of the NOD-like Receptor Family Pyrin Domain Containing Protein 3 in Muckle-Wells Syndrome.

Hu J, Zhu Y, Zhang JZ, Zhang RG, Li HM.

Chin Med J (Engl). 2017 Mar 5;130(5):586-593. doi: 10.4103/0366-6999.200537.

5.

Hearing loss in Muckle-Wells syndrome.

Kuemmerle-Deschner JB, Koitschev A, Ummenhofer K, Hansmann S, Plontke SK, Koitschev C, Koetter I, Angermair E, Benseler SM.

Arthritis Rheum. 2013 Mar;65(3):824-31. doi: 10.1002/art.37810.

6.

"Mutation negative" familial cold autoinflammatory syndrome (FCAS) in an 8-year-old boy: clinical course and functional studies.

Hedrich CM, Bruck N, Paul D, Hahn G, Gahr M, Rösen-Wolff A.

Rheumatol Int. 2012 Sep;32(9):2629-36. doi: 10.1007/s00296-011-2019-3. Epub 2011 Jul 22.

PMID:
21833523
7.

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome.

Weegerink NJ, Schraders M, Leijendeckers J, Slieker K, Huygen PL, Hoefsloot L, Oostrik J, Pennings RJ, Simon A, Snik A, Kremer H, Kunst HP.

Hear Res. 2011 Dec;282(1-2):243-51. doi: 10.1016/j.heares.2011.07.006. Epub 2011 Jul 23.

PMID:
21810457
8.

NLRP3 A439V Mutation in a Large Family with Cryopyrin-associated Periodic Syndrome: Description of Ophthalmologic Symptoms in Correlation with Other Organ Symptoms.

Sobolewska B, Angermair E, Deuter C, Doycheva D, Kuemmerle-Deschner J, Zierhut M.

J Rheumatol. 2016 Jun;43(6):1101-6. doi: 10.3899/jrheum.150681. Epub 2016 May 1.

PMID:
27134254
9.

An unusual phenotype in Muckle-Wells syndrome associated with NLRP3 E311K.

Murphy G, Daly M, O'Sullivan M, Stack J, Rowczenio D, Lachmann H, Shanahan F, Harney S, Hawkins P, Molloy M.

Rheumatology (Oxford). 2011 Feb;50(2):419-20. doi: 10.1093/rheumatology/keq280. Epub 2010 Sep 5. No abstract available.

PMID:
20819795
10.

Risk factors for severe Muckle-Wells syndrome.

Kümmerle-Deschner JB, Tyrrell PN, Reess F, Kötter I, Lohse P, Girschick H, Huemer C, Horneff G, Haas JP, Koitschev A, Deuter C, Benseler SM.

Arthritis Rheum. 2010 Dec;62(12):3783-91. doi: 10.1002/art.27696.

11.

Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1β and rapid response to anakinra.

Sabroe RA, Stokes CA, Parker LC, Higgins K, Prince LR, Sabroe I.

Clin Exp Dermatol. 2013 Dec;38(8):874-7. doi: 10.1111/ced.12186. Epub 2013 Jul 25.

PMID:
23889084
12.

Muckle-Wells treatment with anakinra.

Eungdamrong J, Boyd KP, Meehan SA, Latkowski JA.

Dermatol Online J. 2013 Dec 16;19(12):20720.

13.

Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra.

Hawkins PN, Lachmann HJ, Aganna E, McDermott MF.

Arthritis Rheum. 2004 Feb;50(2):607-12.

14.

Muckle-Wells Syndrome: A Case Report with an NLRP3 T348M Mutation.

Naz Villalba E, Gomez de la Fuente E, Caro Gutierrez D, Pinedo Moraleda F, Yanguela Rodilla J, Mazagatos Angulo D, López Estebaranz JL.

Pediatr Dermatol. 2016 Sep;33(5):e311-4. doi: 10.1111/pde.12905. Epub 2016 Jul 19.

PMID:
27435956
15.

Early detection of sensorineural hearing loss in Muckle-Wells-syndrome.

Kuemmerle-Deschner JB, Koitschev A, Tyrrell PN, Plontke SK, Deschner N, Hansmann S, Ummenhofer K, Lohse P, Koitschev C, Benseler SM.

Pediatr Rheumatol Online J. 2015 Nov 4;13(1):43. doi: 10.1186/s12969-015-0041-9.

16.

Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome, possibly by inhibiting the cryopyrin inflammasome.

Yamazaki T, Masumoto J, Agematsu K, Sawai N, Kobayashi S, Shigemura T, Yasui K, Koike K.

Arthritis Rheum. 2008 Mar;58(3):864-8. doi: 10.1002/art.23261.

17.

A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes.

Insalaco A, Prencipe G, Buonuomo PS, Ceccherini I, Bracaglia C, Pardeo M, Nicolai R, De Benedetti F.

Clin Exp Rheumatol. 2014 Jan-Feb;32(1):123-5. Epub 2013 Oct 11.

PMID:
24144430
18.

Muckle-Wells syndrome in an Indian family associated with NLRP3 mutation.

Abdulla MC, Alungal J, Hawkins PN, Mohammed S.

J Postgrad Med. 2015 Apr-Jun;61(2):120-2. doi: 10.4103/0022-3859.153107.

19.

Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory?

Mueller SM, Itin P, Haeusermann P.

Dermatology. 2011;223(2):113-8. doi: 10.1159/000331580. Epub 2011 Sep 29. Review.

PMID:
21967869
20.

Efficacy and safety of canakinumab in cryopyrin-associated periodic syndromes: results from a Spanish cohort.

Anton J, Calvo I, Fernández-Martin J, Gamir ML, Merino R, Jimenez-Treviño S, Sevilla B, Cabades F, Bou R, Arostegui JI.

Clin Exp Rheumatol. 2015 Nov-Dec;33(6 Suppl 94):S67-71. Epub 2015 Aug 5.

PMID:
26243511

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