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Items: 1 to 20 of 187

1.

Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry.

Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L, Woo P, Naselli A, Bader-Meunier B, Insalaco A, Al-Mayouf SM, Ozen S, Hofer M, Frenkel J, Modesto C, Nikishina I, Schwarz T, Martino S, Meini A, Quartier P, Martini A, Ruperto N, Neven B, Gattorno M; for PRINTO and Eurofever.

Ann Rheum Dis. 2015 Nov;74(11):2043-9. doi: 10.1136/annrheumdis-2013-204991. Epub 2014 Jul 18.

PMID:
25038238
2.

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. Erratum in: J Rheumatol. 2016 Jul;43(7):1451.

PMID:
27134254
3.

Neurology of the cryopyrin-associated periodic fever syndrome.

Parker T, Keddie S, Kidd D, Lane T, Maviki M, Hawkins PN, Lachmann HJ, Ginsberg L.

Eur J Neurol. 2016 Jul;23(7):1145-51. doi: 10.1111/ene.12965. Epub 2016 Mar 2.

PMID:
26931528
4.

The Phenotype and Genotype of Mevalonate Kinase Deficiency: A Series of 114 Cases From the Eurofever Registry.

Ter Haar NM, Jeyaratnam J, Lachmann HJ, Simon A, Brogan PA, Doglio M, Cattalini M, Anton J, Modesto C, Quartier P, Hoppenreijs E, Martino S, Insalaco A, Cantarini L, Lepore L, Alessio M, Calvo Penades I, Boros C, Consolini R, Rigante D, Russo R, Pachlopnik Schmid J, Lane T, Martini A, Ruperto N, Frenkel J, Gattorno M; Paediatric Rheumatology International Trials Organisation and Eurofever Project.

Arthritis Rheumatol. 2016 Nov;68(11):2795-2805. doi: 10.1002/art.39763.

5.

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M.

J Rheumatol. 2016 Jun;43(6):1093-100. doi: 10.3899/jrheum.150962. Epub 2016 Apr 1.

PMID:
27036377
6.

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.

7.

Muckle-Wells syndrome in Chinese patients: a single center case series.

Wu D, Shen M.

Clin Rheumatol. 2017 Apr;36(4):965-969. doi: 10.1007/s10067-016-3523-3. Epub 2016 Dec 27.

PMID:
28028683
8.

Neurologic manifestations of the cryopyrin-associated periodic syndrome.

Kitley JL, Lachmann HJ, Pinto A, Ginsberg L.

Neurology. 2010 Apr 20;74(16):1267-70. doi: 10.1212/WNL.0b013e3181d9ed69.

PMID:
20404307
9.

Gene mutations and clinical phenotypes in 15 Chinese children with cryopyrin-associated periodic syndrome (CAPS).

Li C, Tan X, Zhang J, Li S, Mo W, Han T, Kuang W, Zhou Y, Deng J.

Sci China Life Sci. 2017 Dec;60(12):1436-1444. doi: 10.1007/s11427-017-9246-4. Epub 2017 Dec 2.

PMID:
29285715
10.

Cryopyrin-associated periodic syndrome: a case report and review of the Japanese literature.

Aoyama K, Amano H, Takaoka Y, Nishikomori R, Ishikawa O.

Acta Derm Venereol. 2012 Jul;92(4):395-8. doi: 10.2340/00015555-1322. Review.

11.

Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series.

Vitale A, Lucherini OM, Galeazzi M, Frediani B, Cantarini L.

Clin Exp Rheumatol. 2012 Nov-Dec;30(6):943-6. Epub 2012 Dec 17.

PMID:
22935299
12.

Musculoskeletal symptoms in patients with cryopyrin-associated periodic syndromes: a large database study.

Houx L, Hachulla E, Kone-Paut I, Quartier P, Touitou I, Guennoc X, Grateau G, Hamidou M, Neven B, Berthelot JM, Lequerré T, Pillet P, Lemelle I, Fischbach M, Duquesne A, Le Blay P, Le Jeunne C, Stirnemann J, Bonnet C, Gaillard D, Alix L, Touraine R, Garcier F, Bedane C, Jurquet AL, Duffau P, Smail A, Frances C, Grall-Lerosey M, Cathebras P, Tran TA, Morell-Dubois S, Pagnier A, Richez C, Cuisset L, Devauchelle-Pensec V.

Arthritis Rheumatol. 2015 Nov;67(11):3027-36. doi: 10.1002/art.39292.

13.

Early canakinumab therapy for the sensorineural deafness in a family with Muckle-Wells syndrome due to a novel mutation of NLRP3 gene.

Iida Y, Wakiguchi H, Okazaki F, Nakamura T, Yasudo H, Kubo M, Sugahara K, Yamashita H, Suehiro Y, Okayama N, Hashimoto K, Iwamoto N, Kawakami A, Aoki Y, Takada H, Ohga S, Hasegawa S.

Clin Rheumatol. 2019 Mar;38(3):943-948. doi: 10.1007/s10067-018-4331-8. Epub 2018 Oct 18.

PMID:
30338413
14.

Description of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.

Alejandre N, Ruiz-Palacios A, García-Aparicio AM, Blanco-Kelly F, Bermúdez S, Fernández-Sanz G, Romero FI, Aróstegui JI, Ayuso C, Jiménez-Alfaro I, Herrero-Beaumont G, Sánchez-Pernaute O.

Rheumatology (Oxford). 2014 Jun;53(6):1095-9.

PMID:
24501247
15.

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.

16.

Progressive familial hearing loss in Muckle-Wells syndrome.

Koitschev A, Gramlich K, Hansmann S, Benseler S, Plontke SK, Koitschev C, Koetter I, Kuemmerle-Deschner JB.

Acta Otolaryngol. 2012 Jul;132(7):756-62. doi: 10.3109/00016489.2012.656321. Epub 2012 Apr 12.

PMID:
22497426
17.

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.

18.

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.

19.

Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome.

Kilic H, Sahin S, Duman C, Adrovic A, Barut K, Turanli ET, Yildirim SR, Kizilkilic O, Kasapcopur O, Saltik S.

Eur J Paediatr Neurol. 2019 May;23(3):466-472. doi: 10.1016/j.ejpn.2019.03.006. Epub 2019 Mar 28.

PMID:
30967326
20.

Characterization of NLRP3 variants in Japanese cryopyrin-associated periodic syndrome patients.

Ohnishi H, Teramoto T, Iwata H, Kato Z, Kimura T, Kubota K, Nishikomori R, Kaneko H, Seishima M, Kondo N.

J Clin Immunol. 2012 Apr;32(2):221-9. doi: 10.1007/s10875-011-9629-0. Epub 2011 Dec 24.

PMID:
22193915

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