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Page 1
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: raaphorst j. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
International Guideline for Idiopathic Inflammatory Myopathy-Associated Cancer Screening: an International Myositis Assessment and Clinical Studies Group (IMACS) initiative.
Oldroyd AGS, Callen JP, Chinoy H, Chung L, Fiorentino D, Gordon P, Machado PM, McHugh N, Selva-O'Callaghan A, Schmidt J, Tansley SL, Vleugels RA, Werth VP; International Myositis Assessment and Clinical Studies Group Cancer Screening Expert Group; Aggarwal R. Oldroyd AGS, et al. Nat Rev Rheumatol. 2023 Dec;19(12):805-817. doi: 10.1038/s41584-023-01045-w. Epub 2023 Nov 9. Nat Rev Rheumatol. 2023. PMID: 37945774 Free PMC article. Review.
Effect modification of the association between total cigarette smoking and ALS risk by intensity, duration and time-since-quitting: Euro-MOTOR.
Peters S, Visser AE, D'Ovidio F, Vlaanderen J, Portengen L, Beghi E, Chio A, Logroscino G, Hardiman O, Pupillo E, Veldink JH, Vermeulen R, van den Berg LH; Euro-MOTOR consortium. Peters S, et al. J Neurol Neurosurg Psychiatry. 2020 Jan;91(1):33-39. doi: 10.1136/jnnp-2019-320986. Epub 2019 Aug 21. J Neurol Neurosurg Psychiatry. 2020. PMID: 31434759
Primary SARS-CoV-2 infection in patients with immune-mediated inflammatory diseases: long-term humoral immune responses and effects on disease activity.
van Dam KPJ, Volkers AG, Wieske L, Stalman EW, Kummer LYL, van Kempen ZLE, Killestein J, Tas SW, Boekel L, Wolbink GJ, van der Kooi AJ, Raaphorst J, Takkenberg RB, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl AE, Broens B, Sanchez AP, van Els CACM, de Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart RCF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen DJ, Schreurs CRG, van der Pol WL, Goedee HS, Steenhuis M, Keijzer S, Keijser JBD, Cristianawati O, Ten Brinke A, Verstegen NJM, van Ham SM, Rispens T, Kuijpers TW, Löwenberg M, Eftimov F; T2B! Immunity against SARS-CoV-2 study group. van Dam KPJ, et al. Among authors: raaphorst j. BMC Infect Dis. 2023 May 17;23(1):332. doi: 10.1186/s12879-023-08298-6. BMC Infect Dis. 2023. PMID: 37198536 Free PMC article.
Persistence of seroconversion at 6 months following primary immunisation in patients with immune-mediated inflammatory diseases.
Wieske L, Stalman EW, van Dam PJK, Kummer LY, Steenhuis M, van Kempen ZLE, Killestein J, Volkers AG, Tas SW, Boekel L, Wolbink G, Van der Kooi A, Raaphorst J, Löwenberg M, Takkenberg B, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl A, Broens B, Parra Sanchez A, van Els CACM, Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart CF, Teng YKO, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen D, Schreurs CRG, Van der Pol WL, Goedee HS, Keijzer S, Keijser J, Cristianawati O, Ten Brinke A, Verstegen NJM, Zwinderman KAH, van Ham SM, Kuijpers TW, Rispens T, Eftimov F; T2B! immunity against SARS-CoV-2 study group. Wieske L, et al. Among authors: raaphorst j. Ann Rheum Dis. 2023 Jun;82(6):883-885. doi: 10.1136/ard-2022-223464. Epub 2023 Jan 31. Ann Rheum Dis. 2023. PMID: 36720583 No abstract available.
Comprehensive overview of autoantibody isotype and subclass distribution.
Volkov M, Coppola M, Huizinga R, Eftimov F, Huizinga TWJ, van der Kooi AJ, Oosten LEM, Raaphorst J, Rispens T, Sciarrillo R, Titulaer MJ, Wieske L, Toes REM, Huijbers MGM, van Schie KA, van der Woude D; T2B Consortium. Volkov M, et al. Among authors: raaphorst j. J Allergy Clin Immunol. 2022 Nov;150(5):999-1010. doi: 10.1016/j.jaci.2022.05.023. J Allergy Clin Immunol. 2022. PMID: 36336400 Free article. Review.
Breakthrough infections with the SARS-CoV-2 omicron (B.1.1.529) variant in patients with immune-mediated inflammatory diseases.
Stalman EW, Wieske L, van Dam KPJ, Kummer LY, van Kempen ZLE, Killestein J, Volkers AG, Tas SW, Boekel L, Wolbink GJ, Van der Kooi AJ, Raaphorst J, Löwenberg M, Takkenberg RB, D'Haens GRAM, Spuls PI, Bekkenk MW, Musters AH, Post NF, Bosma AL, Hilhorst ML, Vegting Y, Bemelman FJ, Voskuyl AE, Broens B, Parra Sanchez A, van Els CACM, Wit J, Rutgers A, de Leeuw K, Horváth B, Verschuuren JJGM, Ruiter AM, van Ouwerkerk L, van der Woude D, Allaart CF, Teng OYK, van Paassen P, Busch MH, Jallah PBP, Brusse E, van Doorn PA, Baars AE, Hijnen DJ, Schreurs CRG, Van der Pol WL, Goedee HS, Steenhuis M, Keijzer S, Keijser JBD, Boogaard A, Cristianawati O, Ten Brinke A, Verstegen NJM, Zwinderman KAH, Rispens T, van Ham SM, Kuijpers TW, Eftimov F; T2B! immunity against SARS-CoV-2 study group. Stalman EW, et al. Among authors: raaphorst j. Ann Rheum Dis. 2022 Dec;81(12):1757-1766. doi: 10.1136/ard-2022-222904. Epub 2022 Sep 5. Ann Rheum Dis. 2022. PMID: 36357161
Treatment with add-on IVIg in Myositis Early In the diSease course May be sUperior to Steroids alone for reaching CLinical improvEment (TIME IS MUSCLE): study protocol of a phase-2 double-blind placebo-controlled randomised trial.
Kamperman RG, Bogaards JA, Evers SW, Walter HAW, de Visser M, de Borgie C, Colen-de Koning JCA, Verhamme C, Maas M, Eftimov F, van Schaik IN, van der Kooi AJ, Raaphorst J. Kamperman RG, et al. Among authors: raaphorst j. BMJ Open. 2023 Jul 10;13(7):e067435. doi: 10.1136/bmjopen-2022-067435. BMJ Open. 2023. PMID: 37429682 Free PMC article.
112 results