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Page 1
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study.
Verhagen MM, Last JI, Hogervorst FB, Smeets DF, Roeleveld N, Verheijen F, Catsman-Berrevoets CE, Wulffraat NM, Cobben JM, Hiel J, Brunt ER, Peeters EA, Gómez Garcia EB, van der Knaap MS, Lincke CR, Laan LA, Tijssen MA, van Rijn MA, Majoor-Krakauer D, Visser M, van 't Veer LJ, Kleijer WJ, van de Warrenburg BP, Warris A, de Groot IJ, de Groot R, Broeks A, Preijers F, Kremer BH, Weemaes CM, Taylor MA, van Deuren M, Willemsen MA. Verhagen MM, et al. Among authors: wulffraat nm. Hum Mutat. 2012 Mar;33(3):561-71. doi: 10.1002/humu.22016. Epub 2012 Jan 25. Hum Mutat. 2012. PMID: 22213089
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.
Driessen GJ, Ijspeert H, Weemaes CM, Haraldsson Á, Trip M, Warris A, van der Flier M, Wulffraat N, Verhagen MM, Taylor MA, van Zelm MC, van Dongen JJ, van Deuren M, van der Burg M. Driessen GJ, et al. J Allergy Clin Immunol. 2013 May;131(5):1367-75.e9. doi: 10.1016/j.jaci.2013.01.053. Epub 2013 Apr 6. J Allergy Clin Immunol. 2013. PMID: 23566627
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.
Noordzij JG, Wulffraat NM, Haraldsson A, Meyts I, van't Veer LJ, Hogervorst FB, Warris A, Weemaes CM. Noordzij JG, et al. Among authors: wulffraat nm. Arch Dis Child. 2009 Jun;94(6):448-9. doi: 10.1136/adc.2008.149351. Epub 2009 Feb 17. Arch Dis Child. 2009. PMID: 19224889
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
Israni M, Nicholson B, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Hayward G, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Amin T, Berg S, Soler-Palacin P, Burns SO, Campbell M; RITA-ERN Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2023 Jan;43(1):206-216. doi: 10.1007/s10875-022-01345-y. Epub 2022 Oct 12. J Clin Immunol. 2023. PMID: 36222999 Free PMC article.
EULAR points to consider for patient education in physical activity and self-management of pain during transitional care.
Courel-Ibáñez J, Prieto-Moreno R, Briones-Vozmediano E, Ariza-Vega P, Angevare S, Anton J, Bini I, Clemente D, Correia M, Costello W, De Cock D, Domján A, Leon L, Marques A, Minden K, Mourão AF, Najm A, Ozen S, Pimentel G, Saleem Z, Vetrovsky T, Wulffraat NM, Zacarias Crovato A, Prior Y, Carmona L, Estévez-López F. Courel-Ibáñez J, et al. Among authors: wulffraat nm. Ann Rheum Dis. 2024 Nov 11:ard-2024-226448. doi: 10.1136/ard-2024-226448. Online ahead of print. Ann Rheum Dis. 2024. PMID: 39532311 Free article.
The reliability and validity of the juvenile idiopathic arthritis magnetic resonance scoring system for temporomandibular joints.
de Sonnaville WFC, Speksnijder CM, Zuithoff NPA, Ter Horst SAJ, Nap FJ, Wulffraat NM, Steenks MH, Rosenberg AJWP. de Sonnaville WFC, et al. Among authors: wulffraat nm. J Craniomaxillofac Surg. 2024 Aug;52(8):906-913. doi: 10.1016/j.jcms.2024.04.018. Epub 2024 Apr 30. J Craniomaxillofac Surg. 2024. PMID: 38997869 Free article.
245 results