Joost Frenkel

2024

Living on Site While Renovating; Flexible Instructional Design of Post-Graduate Medical Training

Deschamps, P. K. H., Beugels, G. M. J., Dudink, J., Frenkel, J., Hennus, M. P., Hofstra, M. B., Rutten, A. X. & Van der Schaaf, M., 13 May 2024, In: Perspectives on medical education. 13, 1, p. 300-306 7 p.

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Medical Students' General Beliefs and Specific Perceptions about Patient Feedback Before and after Training in a Clinical Context

Eijkelboom, M. C. L., de Kleijn, R. A. M., Frenkel, J. & van der Schaaf, M. F., 8 May 2024, In: Perspectives on medical education. 13, 1, p. 288-299 12 p.

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Monitoring of Adverse Events and Safety in Autoinflammatory Diseases: Real-Life Data from the Eurofever Registry

Vyzhga, Y., Frenkel, J., Insalaco, A., Anton, J., Koné-Paut, I., Legger, G. E., Fabio, G., Cattalini, M., Kamphuis, S., Hachulla, E., Krause, K., Ekinci, Z., Sanchez-Manubens, J., Van den Berg, J. M., Mora, C. H., Brinkman, D., Labrador, E., Potjewijd, J., Carlini, L. & Bustaffa, M. & 3 others, Caorsi, R., Ruperto, N. & Gattorno, M., 17 May 2024, In: Journal of Clinical Immunology. 44, 5, p. 1-12 12 p., 119.

Research output: Contribution to journal › Article › Academic › peer-review

Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation

Vyzhga, Y., Wittkowski, H., Hentgen, V., Georgin-Lavialle, S., Theodoropoulou, A., Fuehner, S., Jesenak, M., Frenkel, J., Papadopoulou-Alataki, E., Anton, J., Olivieri, A. N., Brunner, J., Sanchez, J., Koné-Paut, I., Fingerhutova, S., Pillet, P., Meinzer, U., Khubchandani, R., Jansson, A. & Haas, J. P. & 10 others, Berendes, R., Kallinich, T., Horneff, G., Lilienthal, E., Papa, R., Foell, D., Lainka, E., Caorsi, R., Gattorno, M. & Hofer, M., 17 May 2024, In: Pediatric Rheumatology. 22, 1, p. 1-13 13 p., 55.

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2023

Isolated neurological presentations of mevalonate kinase deficiency

Hoytema van Konijnenburg, E. M. M., Oussoren, E., Frenkel, J. & van Hasselt, P. M., Jan 2023, In: JIMD Reports. 64, 1, p. 53-56 4 p.

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Patients as Feedback Providers: Exploring Medical Students' Credibility Judgments

Eijkelboom, M. C. L., de Kleijn, R. A. M., van Diemen, W. J. M., Maljaars, C. D. N., van der Schaaf, M. F. & Frenkel, J., 2023, In: Perspectives on medical education. 12, 1, p. 129-140 12 p.

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Perspective-Taking and Perspective-Sharing in Pediatric Education: Exploring Connections Between Strategies of Medical Students and Patients' Caregivers

Eijkelboom, M. C. L., de Kleijn, R. A. M., Baten, L., Frenkel, J. & van der Schaaf, M. F., 1 Oct 2023, In: Perspectives on medical education. 12, 1, p. 372-384 13 p.

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TNFRSF1A-pR92Q variant identifies a subset of patients more similar to systemic undifferentiated recurrent fever than TNF receptor-associated periodic syndrome

1 Oct 2023, In: Clinical and Experimental Rheumatology. 41, 10, p. 1998-2007 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

2022

Long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency: results from the randomised Phase 3 CLUSTER trial

Jeyaratnam, J., Simon, A., Calvo, I., Constantin, T., Shcherbina, A., Hofer, M., Gattorno, M., Martini, A., Bader-Meunier, B., Vastert, B., Levy, J., Dekker, E., de Benedetti, F. & Frenkel, J., 1 May 2022, In: Rheumatology (Oxford, England). 61, 5, p. 2088-2094 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Making knowledge clips with patients: What learning mechanisms are triggered in medical students?

Eijkelboom, M. C. L., Kalee, M., de Kleijn, R. A. M., van Wijngaarden, J. J., de Jonge, R. R., van der Schaaf, M. F. & Frenkel, J., Oct 2022, In: Patient Education and Counseling. 105, 10, p. 3096-3102 7 p.

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The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory diseases: cryopyrin-associated periodic syndromes, tumour necrosis factor receptor-associated periodic syndrome, mevalonate kinase deficiency, and deficiency of the interleukin-1 receptor antagonist

Romano, M., Arici, Z. S., Piskin, D., Alehashemi, S., Aletaha, D., Barron, K. S., Benseler, S., Berard, R., Broderick, L., Dedeoglu, F., Diebold, M., Durrant, K. L., Ferguson, P., Foell, D., Hausmann, J., Jones, O. Y., Kastner, D. L., Lachmann, H. J., Laxer, R. M. & Rivera, D. & 11 others, Ruperto, N., Simon, A., Twilt, M., Frenkel, J., Hoffman, H., De Jesus, A. A., Kuemmerle-Deschner, J. B., Ozen, S., Gattorno, M., Goldbach-Mansky, R. & Demirkaya, E., 1 Jul 2022, In: Annals of the rheumatic diseases. 81, 7, p. 907-921 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

20 Citations (Scopus)

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency

29 Jul 2022, In: Pediatric Rheumatology. 20, 1, p. 56 56.

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3 Citations (Scopus)

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2021

Auto-inflammatie in de dermatologie

Translated title of the contribution: Autoinflammation in dermatologyMulders-Manders, C. M. & Frenkel, J., 2021, In: Nederlands Tijdschrift voor Dermatologie en Venereologie. 31, p. 10-14 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

Improving Handoff by Deliberate Cognitive Processing: Results from a Randomized Controlled Experimental Study

van Heesch, G., Frenkel, J., Kollen, W., Zwaan, L., Mamede, S., Schmidt, H. & de Hoog, M., Apr 2021, In: The Joint Commission Journal on Quality and Patient Safety. 47, 4, p. 234-241 8 p.

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INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

Feb 2021, In: The journal of allergy and clinical immunology. In practice. 9, 2, p. 783-791.e4

Research output: Contribution to journal › Article › Academic › peer-review

2020

Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever

Van Gorp, H., Huang, L., Saavedra, P., Vuylsteke, M., Asaoka, T., Prencipe, G., Insalaco, A., Ogunjimi, B., Jeyaratnam, J., Cataldo, I., Jacques, P., Vermaelen, K., Dullaers, M., Joos, R., Sabato, V., Stella, A., Frenkel, J., De Benedetti, F., Dehoorne, J. & Haerynck, F. & 3 others, Calamita, G., Portincasa, P. & Lamkanfi, M., 1 Jul 2020, In: Annals of the Rheumatic Diseases. 79, 7, p. 960-968 9 p.

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2019

An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome

Federici, S., Vanoni, F., Ben-Chetrit, E., Cantarini, L., Frenkel, J., Goldbach-Mansky, R., Gul, A., Hoffman, H., Koné-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J., Martini, A., Obici, L., Ozen, S., Simon, A., Hofer, M., Ruperto, N., Gattorno, M., Apr 2019, In: Journal of Rheumatology. 46, 4, p. 429-436 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases

1 Oct 2019, In: Annals of the Rheumatic Diseases. 78, 10, p. 1405-1411 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

Kant, B., Carbo, E. C., Kokmeijer, I., Oosterman, J. J. M., Frenkel, J., Swertz, M. A., Ploos van Amstel, J. K., Aróstegui, J. I., Koudijs, M. J. & van Gijn, M. E., 1 Nov 2019, In: Journal of Molecular Diagnostics. 21, 6, p. 943-950 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

2018

Canakinumab for the treatment of autoinflammatory recurrent fever syndromes

De Benedetti, F., Gattorno, M., Anton, J., Eldad, B. C., Frenkel, J., Hoffman, H. M., Isabelle, K. P., Lachmann, H. J., Ozen, S., Simon, A., Zeft, A., Penades, I. C., Moutschen, M., Quartier, P., Kasapcopur, O., Shcherbina, A., Hofer, M., Hashkes, P. J., Van der Hilst, J. & Hara, R. & 10 others, Segundo, B. R., Constantin, T., Gul, A., Livneh, A., Brogan, P., Cattalini, M., Obici, L., Lheritier, K., Speziale, A. & Junge, G., 17 May 2018, In: New England Journal of Medicine. 378, 20, p. 1908-1919 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

Flexibility in Postgraduate Medical Training in the Netherlands

Hoff, R., Frenkel, J., Imhof, S. & ten Cate, T. J., Mar 2018, In: Academic Medicine. 93, 3S, p. S32-S36

Research output: Contribution to journal › Article › Academic › peer-review

1 Citation (Scopus)

In silico validation of the autoinflammatory disease damage index

Ter Haar, N. M., Van Delft, A. L. J., Annink, K. V., Van Stel, H., Al-Mayouf, S. M., Amaryan, G., Anton, J., Barron, K. S., Benseler, S., Brogan, P. A., Cantarini, L., Cattalini, M., Cochino, A. V., De Benedetti, F., Dedeoglu, F., De Jesus, A. A., Demirkaya, E., Dolezalova, P., Durrant, K. L. & Fabio, G. & 31 others, Gallizzi, R., Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. M., Insalaco, A., Jansson, A. F., Kallinich, T., Kone-Paut, I., Kozlova, A., Kuemmerle-Deschner, J. B., Lachmann, H. J., Laxer, R. M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. K., Özen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Schulert, G., Gattorno, M. & Frenkel, J., 1 Nov 2018, In: Annals of the Rheumatic Diseases. 77, 11, p. 1599-1605 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin

Cuperus, E., Koevoets, R., van der Smagt, J. J., Toonstra, J., de Graaf, M., Frenkel, J. & Pasmans, S. G. M. A., 1 Mar 2018, In: JAAD Case Reports. 4, 2, p. 192-195 4 p.

Research output: Contribution to journal › Article › Academic › peer-review

Management of autoinflammatory diseases: Czech-Slovak adaptation of the SHARE European recommendations

Fingerhutová, Dallos, T., Bouchalová, K., Brejchová, I., Fráňová, J., Jančová, E., Jarošová, K., Kobrová, K., Macků, M., Malcová, H., Minxová, L., Němcová, D., Schüller, M., Skalická, E., Vargová, V., Doležalová, P., Haar, N. M., Oswald, M., Jeyaratnam, J. & Anton, J. & 23 others, Barron, K. S., Brogan, P. A., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H. J., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y., Wouters, C., Feldman, B. M., Vastert, S. J., Wulffraat, N. M., Benseler, S. M., Frenkel, J., Gattorno, M. & Kuemmerle-Deschner, J. B., 1 Jan 2018, In: Cesko-Slovenska Pediatrie. 73, 4, p. 209-220 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey

Jeyaratnam, J., Ter Haar, N. M., Lachmann, H. J., Kasapcopur, O., Ombrello, A. K., Rigante, D., Dedeoglu, F., Baris, E. H., Vastert, S. J., Wulffraat, N. M. & Frenkel, J., 2018, In: Pediatric Rheumatology. 16, 1, 6 p., 19.

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2017

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Papa, R., Doglio, M., Lachmann, H. J., Ozen, S., Frenkel, J., Simon, A., Neven, B., Kuemmerle-Deschner, J. B., Ozgodan, H., Caorsi, R., Federici, S., Finetti, M., Trachana, M., Brunner, J., Bezrodnik, L., Pinedo Gago, M. C., Maggio, M. C., Tsitsami, E., Al Suwairi, W. & Espada, G. & 7 others, Shcherbina, A., Aksu, G., Ruperto, N., Martini, A., Ceccherini, I., Gattorno, M., 2017, In: Orphanet Journal of Rare Diseases. 12, 1, 167.

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Development of the autoinflammatory disease damage index (ADDI)

Ter Haar, N. M., Annink, K. V., Al-Mayouf, S. M., Amaryan, G., Anton, J., Barron, K. S., Benseler, S. M., Brogan, P. A., Cantarini, L., Cattalini, M., Cochino, A.-V., De Benedetti, F., Dedeoglu, F., de Jesus, A. A., Della Casa Alberighi, O., Demirkaya, E., Dolezalova, P., Durrant, K. L., Fabio, G. & Gallizzi, R. & 29 others, Goldbach-Mansky, R., Hachulla, E., Hentgen, V., Herlin, T., Hofer, M., Hoffman, H. M., Insalaco, A., Jansson, A. F., Kallinich, T., Koné-Paut, I., Kozlova, A., Kuemmerle-Deschner, J. B., Lachmann, H. J., Laxer, R. M., Martini, A., Nielsen, S., Nikishina, I., Ombrello, A. K., Ozen, S., Papadopoulou-Alataki, E., Quartier, P., Rigante, D., Russo, R., Simon, A., Trachana, M., Uziel, Y., Ravelli, A., Gattorno, M. & Frenkel, J., 1 May 2017, In: Annals of the Rheumatic Diseases. 76, 5, p. 821-830 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

International retrospective chart review of treatment patterns in severe FMF, TRAPS and MKD/HIDS

Ozen, S., Kuemmerle-Deschner, J. B., Cimaz, R., Livneh, A., Quartier, P., Kone-Paut, I., Zeft, A., Spalding, S., Gul, A., Hentgen, V., Savic, S., Foeldvari, I., Frenkel, J., Cantarini, L., Patel, D., Weiss, J., Marinsek, N., Degun, R., Lomax, K. G. & Lachmann, H. J., Apr 2017, In: Arthritis care and research. p. 578-586 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

2016

A novel assessment tool for clinical care of patients with autoinflammatory disease: juvenile autoinflammatory disease multidimensional assessment report

Konukbay, D., Gattorno, M., Yildiz, D., Frenkel, J., Acikel, C., Sozeri, B., Makay, B., Aktay Ayaz, N., Barut, K., Kisaarslan, A., Bilginer, Y., Karaman, D., Peru, H., Simsek, D., Aydog, O., Unsal, E., Gunduz, Z., Fidanci, B. E., Kone-Paut, I. & Kasapcopur, O. & 4 others, Ravelli, A., Ozen, S., Demirkaya, E., 30 Oct 2016, In: Clinical and Experimental Rheumatology. 34 , 6, Suppl 102, p. 129-135 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Patient-Centered Teaching in a Technology-Dominated Era

Frenkel, J., Chen, H. C. & Ten Cate, O., Dec 2016, In: Southern Medical Journal. 109, 12, p. 743-746 4 p.

Research output: Contribution to journal › Article › Academic › peer-review

Reduced serpinB9-mediated caspase-1 inhibition can contribute to autoinflammatory disease

Van Der Burgh, R., Meeldijk, J., Jongeneel, L., Frenkel, J., Bovenschen, N., Van Gijn, M. & Boes, M., 12 Apr 2016, In: Oncotarget. 7, 15, p. 19265-19271 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

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

ter Haar, N. M., Jeyaratnam, J., Lachmann, H. J., Simon, A., Brogan, P. A., 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. & 8 others, Russo, R., Pachlopnik Schmid, J., Lane, T., Martini, A., Ruperto, N., Frenkel, J., Gattorno, M., Nov 2016, In: Arthritis & Rheumatology. 68, 11, p. 2795-2805 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

2015

An In Silico Health Economic Model Applied to Cryopyrin Associated Periodic Syndromes (Caps): Cost Effectiveness of Prevention Effects of Ultra-Orphan Drugs for Rare Diseases

Trieste, L., Della Casa Alberighi, O., Accame, L., Lorenzoni, V., Frenkel, J., Gattorno, M., Quartier, P., Martini, A. & Turchetti, G., Nov 2015, In: Value in Health. 18, 7, p. A669

Research output: Contribution to journal › Article › Academic › peer-review

A novel mutation in NLRC4 in a large pedigree with an anakinra responsive autoinflammatory disease

Volker-Touw, N., de Koning, H., van Kempen, T., Oberndorff, K., van Steensel, M., Giltay, J., Boes, M., de Kovel, C., Simon, A., Frenkel, J. & van Gijn, M., 28 Sept 2015, In: Pediatric Rheumatology. 13, 1, P30.

Research output: Contribution to journal › Article › Academic › peer-review

Development of the autoinflammatory disease damage index (ADDI)

Annink, K., ter Haar, N., Gattorno, M., Lachmann, H., Kuemmerle-Deschner, J., Ozen, S., Goldbach-Mansky, R., Durrant, K., Alberighi, O. D. C. & Frenkel, J., Sept 2015, In: Pediatric Rheumatology. 13, Suppl 1, p. P29

Research output: Contribution to journal › Article › Academic › peer-review

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD)

Jeyaratnam, J., Ter Haar, N. M., de Sain-van der Velden, M. G. M., Waterham, H. R., van Gijn, M. E. & Frenkel, J., 27 Sept 2015, In: JIMD Reports. 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Koné-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S. & Butbul, A. Y. & 12 others, Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., 2015, In: Annals of the Rheumatic Diseases. 74, 5, p. 799-805 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever

Giancane, G., ter Haar, N., Wulffraat, N., Vastert, S., Barron, K., Hentgen, V., Kallinich, T., Ozdogan, H., Anton, J., Brogan, P., Cantarini, L., Frenkel, J., Galeotti, C., Gattorno, M., Grateau, G., Hofer, M., Kone-Paut, I., Kuemmerle-Deschner, J., Lachmann, H. J. & Simon, A. & 4 others, Demirkaya, E., Feldman, B., Uziel, Y. & Ozen, S., Apr 2015, In: Annals of the Rheumatic Diseases. 74, 4, p. 635-641 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Performance of Different Diagnostic Criteria for Familial Mediterranean Fever in Children with Periodic Fevers: Results from a Multicenter International Registry

Demirkaya, E., Saglam, C., Turker, T., Koné-Paut, I., Woo, P., Doglio, M., Amaryan, G., Frenkel, J., Uziel, Y., Insalaco, A., Cantarini, L., Hofer, M., Boiu, S., Duzova, A., Modesto, C., Bryant, A., Rigante, D., Papadopoulou-Alataki, E., Guillaume-Czitrom, S. & Kuemmerle-Deschner, J. & 6 others, Neven, B., Lachmann, H., Martini, A., Ruperto, N., Gattorno, M. & Ozen, S., 15 Nov 2015, In: Journal of Rheumatology. 43, 1, p. 154-160 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

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

Levy, R., Gerard, L., Kuemmerle-Deschner, J., Lachmann, H. J., Kone-Paut, I., Cantarini, L., Woo, P., Naselli, A., Bader-Meunier, B., Insalaco, A., AI-Mayoutl, S. M., Ozen, S., Hofer, M., Frenkel, J., Modesto, C., Nikishina, I., Schwarz, T., Martino, S., Meini, A. & Quartier, P. & 6 others, Martini, A., Ruperto, N., Neven, B., Gattorno, M., Nov 2015, In: Annals of the Rheumatic Diseases. 74, 11, p. 2043-2049 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Recommendations for the management of autoinflammatory diseases

ter Haar, N. M., Oswald, M., Jeyaratnam, J., Anton, J., Barron, K. S., Brogan, P. A., Cantarini, L., Galeotti, C., Grateau, G., Hentgen, V., Hofer, M., Kallinich, T., Kone-Paut, I., Lachmann, H. J., Ozdogan, H., Ozen, S., Russo, R., Simon, A., Uziel, Y. & Wouters, C. & 7 others, Feldman, B. M., Vastert, S., Wulffraat, N. W., Benseler, S. M., Frenkel, J., Gattorno, M. & Kuemmerle-Deschner, J. B., Sept 2015, In: Annals of the Rheumatic Diseases. 74, 9, p. 1636-1644 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

2014

Defects in Mitochondrial Clearance Predispose Human Monocytes to Interleukin-1 beta Hypersecretion

van der Burgh, R., Nijhuis, L., Pervolaraki, K., Compeer, E. B., Jongeneel, C. H., van Gijn, M., Coffer, P. J., Murphy, M. P., Mastroberardino, P. G., Frenkel, J. & Boes, M. L., 21 Feb 2014, In: Journal of Biological Chemistry. 289, 8, p. 5000-5012 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease

Translated title of the contribution: MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory diseaseStoffels, M., Szperl, A., Simon, A., Netea, M. G., Plantinga, T. S., van Deuren, M., Kamphuis, S. S. M., Lachmann, H. J., Cuppen, E. P. J. G., Kloosterman, W. P., Frenkel, J., van Diemen, C. C., Wijmenga, C., van Gijn, M. E. & van der Meer, J. W., 2014, In: Annals of the Rheumatic Diseases. 73, 2, p. 455-461 7 p.

Research output: Contribution to journal › Article › Academic › peer-review

Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki disease

Translated title of the contribution: Periodic fever in MVK deficiency: a patient initially diagnosed with incomplete Kawasaki diseaseThors, V. S., Vastert, S. J., Wulffraat, N. M., van Royen, A., Frenkel, J., de Sain - van der Velden, M. G. M. & de Koning, T. J., 2014, In: Pediatrics. 133, 2, p. e461-e465 5 p.

Research output: Contribution to journal › Article › Academic › peer-review

Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children

Translated title of the contribution: Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in childrenOzen, S., Demirkaya, E., Amaryan, G., Kone-Paut, I., Polat, A. N., Woo, P., Uziel, Y., Modesto, C., Finetti, M., Quartier, P., Papadopoulou-Alataki, E., Al-Mayouf, S., Fabio, G., Gallizzi, R., Cantarini, L., Frenkel, J., Nielsen, S., Hofer, M., Insalaco, A. & Acikel, C. & 4 others, Ozdogan, H., Martini, A., Ruperto, N. & Gattorno, M., 2014, In: Annals of the Rheumatic Diseases. 73, 4, p. 662-667 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

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

Translated title of the contribution: The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registryLachmann, H. J., Papa, R., Gerhold, K., Obici, L., Touitou, I., Cantarini, L., Frenkel, J., Anton, J., Kone-Paut, I., Cattalini, M., Bader-Meunier, B., Insalaco, A., Hentgen, V., Merino, R., Modesto, C., Toplak, N., Berendes, R., Ozen, S., Cimaz, R. & Jansson, A. & 6 others, Brogan, P. T., Hawkins, P. N., Ruperto, N., Martini, A., Woo, P. & Gattorno, M., 2014, In: Annals of the Rheumatic Diseases. 73, 12, p. 2160-2167 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

Unprenylated RhoA Contributes to IL-1 beta Hypersecretion in Mevalonate Kinase Deficiency Model through Stimulation of Rac1 Activity

van der Burgh, R., Pervolaraki, K., Turkenburg, M., Waterham, H. R., Frenkel, J. & Boes, M., 3 Oct 2014, In: Journal of Biological Chemistry. 289, 40, p. 27757-27765 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes

Translated title of the contribution: Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromesPiram, M., Kone-Paut, I., Lachmann, H. J., Frenkel, J., Ozen, S., Kuemmerle-Deschner, J., Stojanov, S., Simon, A., Finetti, M., Sormani, M. P., Martini, A., Gattorno, M. & Ruperto, N., 2014, In: Annals of the Rheumatic Diseases. 73, 12, p. 2168-2173 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

What is the diagnosis?

De Steenhuijsen Piters, W. A. A., Frenkel, J., Brand, P. L. P. & Raphaël, M. F., 1 Nov 2014, In: Medical Education. 48, 11, p. 1114-1115 2 p.

Research output: Contribution to journal › Article › Academic › peer-review

2013

Familial Mediterranean fever: not to be missed

Translated title of the contribution: Familial Mediterranean fever: not to be missedFrenkel, J., Bemelman, F. J., Potter-van Loon, B. J. & Simon, A., 2013, In: Nederlands Tijdschrift voor Geneeskunde. 157, 18, p. A5784 1 p.

Research output: Contribution to journal › Article › Professional

Joost Frenkel

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