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105 results

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Page 1
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
Brain imaging in myotonic dystrophy type 1: A systematic review.
Okkersen K, Monckton DG, Le N, Tuladhar AM, Raaphorst J, van Engelen BGM. Okkersen K, et al. Among authors: raaphorst j. Neurology. 2017 Aug 29;89(9):960-969. doi: 10.1212/WNL.0000000000004300. Epub 2017 Aug 2. Neurology. 2017. PMID: 28768849 Free article. Review.
Combined N-of-1 trials to investigate mexiletine in non-dystrophic myotonia using a Bayesian approach; study rationale and protocol.
Stunnenberg BC, Woertman W, Raaphorst J, Statland JM, Griggs RC, Timmermans J, Saris CG, Schouwenberg BJ, Groenewoud HM, Stegeman DF, van Engelen BG, Drost G, van der Wilt GJ. Stunnenberg BC, et al. Among authors: raaphorst j. BMC Neurol. 2015 Mar 25;15:43. doi: 10.1186/s12883-015-0294-4. BMC Neurol. 2015. PMID: 25880166 Free PMC article. Clinical Trial.
Tau Rather than TDP-43 Proteins are Potential Cerebrospinal Fluid Biomarkers for Frontotemporal Lobar Degeneration Subtypes: A Pilot Study.
Kuiperij HB, Versleijen AA, Beenes M, Verwey NA, Benussi L, Paterlini A, Binetti G, Teunissen CE, Raaphorst J, Schelhaas HJ, Küsters B, Pijnenburg YA, Ghidoni R, Verbeek MM. Kuiperij HB, et al. Among authors: raaphorst j. J Alzheimers Dis. 2017;55(2):585-595. doi: 10.3233/JAD-160386. J Alzheimers Dis. 2017. PMID: 27662293
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.
Japanese version of the ALS-FTD-Questionnaire (ALS-FTD-Q-J).
Watanabe Y, Beeldman E, Raaphorst J, Izumi Y, Yoshino H, Masuda M, Atsuta N, Ito S, Adachi T, Adachi Y, Yokota O, Oda M, Hanashima R, Ogino M, Ichikawa H, Hasegawa K, Kimura H, Shimizu T, Aiba I, Yabe H, Kanba M, Kusumi K, Aoki T, Hiroe Y, Watanabe H, Nishiyama K, Nomoto M, Sobue G, Nakashima K; ALS-FTD-Q-J Research Group. Watanabe Y, et al. Among authors: raaphorst j. J Neurol Sci. 2016 Aug 15;367:51-5. doi: 10.1016/j.jns.2016.05.036. Epub 2016 May 18. J Neurol Sci. 2016. PMID: 27423564
Structural white matter networks in myotonic dystrophy type 1.
van Dorst M, Okkersen K, Kessels RPC, Meijer FJA, Monckton DG, van Engelen BGM, Tuladhar AM, Raaphorst J; OPTIMISTIC consortium. van Dorst M, et al. Among authors: raaphorst j. Neuroimage Clin. 2019;21:101615. doi: 10.1016/j.nicl.2018.101615. Epub 2018 Nov 28. Neuroimage Clin. 2019. PMID: 30522973 Free PMC article.
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Bugiardini E, Nunes AM, Oliveira-Santos A, Dagda M, Fontelonga TM, Barraza-Flores P, Pittman AM, Morrow JM, Parton M, Houlden H, Elliott PM, Syrris P, Maas RP, Akhtar MM, Küsters B, Raaphorst J, Schouten M, Kamsteeg EJ, van Engelen B, Hanna MG, Phadke R, Lopes LR, Matthews E, Burkin DJ. Bugiardini E, et al. Among authors: raaphorst j. J Am Heart Assoc. 2022 Dec 6;11(23):e026494. doi: 10.1161/JAHA.122.026494. Epub 2022 Nov 29. J Am Heart Assoc. 2022. PMID: 36444867 Free PMC article.
105 results